| Year |
Citation |
Score |
| 2023 |
Li T, Ferraro N, Strober BJ, Aguet F, Kasela S, Arvanitis M, Ni B, Wiel L, Hershberg E, Ardlie K, Arking DE, Beer RL, Brody J, Blackwell TW, Clish C, ... ... Nickerson DA, et al. The functional impact of rare variation across the regulatory cascade. Cell Genomics. 3: 100401. PMID 37868038 DOI: 10.1016/j.xgen.2023.100401 |
0.314 |
|
| 2023 |
Jun G, English A, Metcalf G, Yang J, Chaisson M, Pankratz N, Menon V, Salerno W, Krasheninina O, Smith A, Lane J, Blackwell T, Kang HM, Salvi S, Meng Q, ... ... Nickerson D, et al. Structural variation across 138,134 samples in the TOPMed consortium. Research Square. PMID 36778386 DOI: 10.21203/rs.3.rs-2515453/v1 |
0.301 |
|
| 2023 |
Jun G, English AC, Metcalf GA, Yang J, Chaisson MJ, Pankratz N, Menon VK, Salerno WJ, Krasheninina O, Smith AV, Lane JA, Blackwell T, Kang HM, Salvi S, Meng Q, ... ... Nickerson DA, et al. Structural variation across 138,134 samples in the TOPMed consortium. Biorxiv : the Preprint Server For Biology. PMID 36747810 DOI: 10.1101/2023.01.25.525428 |
0.301 |
|
| 2022 |
Wheeler MM, Stilp AM, Rao S, Halldórsson BV, Beyter D, Wen J, Mihkaylova AV, McHugh CP, Lane J, Jiang MZ, Raffield LM, Jun G, Sedlazeck FJ, Metcalf G, Yao Y, ... ... Nickerson DA, et al. Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program. Nature Communications. 13: 7592. PMID 36481753 DOI: 10.1038/s41467-022-35354-7 |
0.312 |
|
| 2022 |
Li J, Yang W, Wang YJ, Ma C, Curry CJ, McGoldrick D, Nickerson DA, Chong JX, Blue EE, Mullikin JC, Reefhuis J, Nembhard WN, Romitti PA, Werler MM, Browne ML, et al. Exome sequencing identifies genetic variants in anophthalmia and microphthalmia. American Journal of Medical Genetics. Part A. PMID 35716026 DOI: 10.1002/ajmg.a.62874 |
0.334 |
|
| 2022 |
Taub MA, Conomos MP, Keener R, Iyer KR, Weinstock JS, Yanek LR, Lane J, Miller-Fleming TW, Brody JA, Raffield LM, McHugh CP, Jain D, Gogarten SM, Laurie CA, Keramati A, ... ... Nickerson DA, et al. Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed. Cell Genomics. 2. PMID 35530816 DOI: 10.1016/j.xgen.2021.100084 |
0.369 |
|
| 2022 |
Cingoz S, Soydemir D, Oner TO, Karaca E, Ozden B, Kurul SH, Bayram E, Coe BP, Nickerson DA, Eichler EE. Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations. European Journal of Medical Genetics. 104497. PMID 35430327 DOI: 10.1016/j.ejmg.2022.104497 |
0.301 |
|
| 2022 |
Gaedigk A, Boone EC, Scherer SE, Lee SB, Numanagić I, Sahinalp C, Smith JD, McGee S, Radhakrishnan A, Qin X, Wang WY, Farrow EG, Gonzaludo N, Halpern AL, Nickerson DA, et al. CYP2C8, CYP2C9 and CYP2C19 characterization using Next Generation Sequencing and Haplotype Analysis: A GeT-RM Collaborative Project. The Journal of Molecular Diagnostics : Jmd. PMID 35134542 DOI: 10.1016/j.jmoldx.2021.12.011 |
0.339 |
|
| 2021 |
Mikhaylova AV, McHugh CP, Polfus LM, Raffield LM, Boorgula MP, Blackwell TW, Brody JA, Broome J, Chami N, Chen MH, Conomos MP, Cox C, Curran JE, Daya M, Ekunwe L, ... ... Nickerson DA, et al. Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program. American Journal of Human Genetics. PMID 34582791 DOI: 10.1016/j.ajhg.2021.08.007 |
0.33 |
|
| 2021 |
Little A, Hu Y, Sun Q, Jain D, Broome J, Chen MH, Thibord F, McHugh C, Surendran P, Blackwell TW, Brody JA, Bhan A, Chami N, Vries PS, Ekunwe L, ... ... Nickerson D, et al. Whole genome sequence analysis of platelet traits in the NHLBI trans-omics for precision medicine initiative. Human Molecular Genetics. PMID 34553764 DOI: 10.1093/hmg/ddab252 |
0.31 |
|
| 2021 |
Hirsch SD, Elling CL, Bootpetch TC, Scholes MA, Hafrén L, Streubel SO, Pine HS, Wine TM, Szeremeta W, Prager JD, Einarsdottir E, Yousaf A, Baschal EE, Rehman S, Bamshad MJ, ... Nickerson DA, et al. The role of CDHR3 in susceptibility to otitis media. Journal of Molecular Medicine (Berlin, Germany). PMID 34322716 DOI: 10.1007/s00109-021-02118-7 |
0.303 |
|
| 2021 |
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, ... Nickerson DA, et al. Targeted long-read sequencing identifies missing disease-causing variation. American Journal of Human Genetics. PMID 34216551 DOI: 10.1016/j.ajhg.2021.06.006 |
0.323 |
|
| 2021 |
Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM, ... Nickerson DA, et al. TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes. Hgg Advances. 2. PMID 33791682 DOI: 10.1016/j.xhgg.2020.100016 |
0.302 |
|
| 2021 |
Hildebrandt CC, Patel N, Graham JM, Bamshad M, Nickerson DA, White JJ, Marvin CT, Miller DE, Grand KL, Sanchez-Lara PA, Schweitzer D, Al-Zaidan HI, Al Masseri Z, Alkuraya FS, et al. Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome. American Journal of Medical Genetics. Part A. PMID 33783941 DOI: 10.1002/ajmg.a.62194 |
0.322 |
|
| 2021 |
Taliun D, Harris DN, Kessler MD, Carlson J, Szpiech ZA, Torres R, Taliun SAG, Corvelo A, Gogarten SM, Kang HM, Pitsillides AN, LeFaive J, Lee SB, Tian X, Browning BL, ... Nickerson DA, et al. Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program. Nature. 590: 290-299. PMID 33568819 DOI: 10.1038/s41586-021-03205-y |
0.37 |
|
| 2020 |
Dinardo CL, Oliveira TGM, Kelly S, Ashley-Koch A, Telen M, Schmidt LC, Castilho S, Melo K, Dezan MR, Wheeler MM, Johnsen JM, Nickerson DA, Jain D, Custer B, Pereira AC, et al. Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program. Transfusion. PMID 33231305 DOI: 10.1111/trf.16204 |
0.317 |
|
| 2020 |
Meitlis I, Allenspach EJ, Bauman BM, Phan IQ, Dabbah G, Schmitt EG, Camp ND, Torgerson TR, Nickerson DA, Bamshad MJ, Hagin D, Luthers CR, Stinson JR, Gray J, Lundgren I, et al. Multiplexed Functional Assessment of Genetic Variants in CARD11. American Journal of Human Genetics. PMID 33202260 DOI: 10.1016/j.ajhg.2020.10.015 |
0.331 |
|
| 2020 |
Dyment DA, O'Donnell-Luria A, Agrawal PB, Coban Akdemir Z, Aleck KA, Antaki D, Al Sharhan H, Au PB, Aydin H, Beggs AH, Bilguvar K, Boerwinkle E, Brand H, Brownstein CA, Buyske S, ... Nickerson DA, et al. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. American Journal of Medical Genetics. Part A. PMID 33098347 DOI: 10.1002/ajmg.a.61926 |
0.341 |
|
| 2020 |
Bootpetch TC, Hafrén L, Elling CL, Baschal EE, Manichaikul AW, Pine HS, Szeremeta W, Scholes MA, Cass SP, Larson ED, Chan KH, Ishaq R, Prager JD, Shaikh RS, Gubbels SP, ... ... Nickerson DA, et al. Multi-omic studies on missense PLG variants in families with otitis media. Scientific Reports. 10: 15035. PMID 32929111 DOI: 10.1038/S41598-020-70498-W |
0.365 |
|
| 2020 |
Frank DN, Giese APJ, Hafren L, Bootpetch TC, Yarza TKL, Steritz MJ, Pedro M, Labra PJ, Daly KA, Tantoco MLC, Szeremeta W, Reyes-Quintos MRT, Ahankoob N, Llanes EGDV, Pine HS, ... ... Nickerson DA, et al. Otitis media susceptibility and shifts in the head and neck microbiome due to variants. Journal of Medical Genetics. PMID 32709676 DOI: 10.1136/Jmedgenet-2020-106844 |
0.36 |
|
| 2020 |
Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, ... ... Nickerson DA, et al. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis and treatment suggestions. Journal of Inherited Metabolic Disease. PMID 32681751 DOI: 10.1002/Jimd.12290 |
0.372 |
|
| 2020 |
Lee EY, Mak AC, Hu D, Sajuthi S, White MJ, Keys KL, Eckalbar W, Bonser L, Huntsman S, Urbanek C, Eng C, Jain D, Abecasis G, Kang HM, Germer S, ... ... Nickerson DA, et al. Whole Genome Sequencing Identifies Novel Functional Loci Associated with Lung Function in Puerto Rican Youth. American Journal of Respiratory and Critical Care Medicine. PMID 32459537 DOI: 10.1164/Rccm.202002-0351Oc |
0.323 |
|
| 2020 |
Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, ... ... Nickerson DA, et al. Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. The Journal of Clinical Investigation. PMID 32453716 DOI: 10.1172/Jci131656 |
0.323 |
|
| 2020 |
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, ... ... Nickerson DA, et al. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 32424177 DOI: 10.1038/S41436-020-0811-8 |
0.347 |
|
| 2020 |
Mak ACY, Sajuthi S, Joo J, Xiao S, Sleiman PM, White MJ, Lee EY, Saef B, Hu D, Gui H, Keys KL, Lurmann F, Jain D, Abecasis G, Kang HM, ... Nickerson DA, et al. Novel Regulatory Variants Are Associated with Lung Function in African American Children with Asthma. Genetics. PMID 32327564 DOI: 10.1534/Genetics.120.303231 |
0.374 |
|
| 2020 |
Raffield LM, Lu AT, Szeto MD, Little A, Grinde KE, Shaw J, Auer PL, Cushman M, Horvath S, Irvin MR, Lange EM, Lange LA, Nickerson DA, Thornton TA, Wilson JG, et al. Coagulation factor VIII: Relationship to Cardiovascular Disease Risk and Whole Genome Sequence and Epigenome-Wide Analysis in African Americans. Journal of Thrombosis and Haemostasis : Jth. PMID 31985870 DOI: 10.1111/Jth.14741 |
0.333 |
|
| 2020 |
Kessler MD, Loesch DP, Perry JA, Heard-Costa NL, Taliun D, Cade BE, Wang H, Daya M, Ziniti J, Datta S, Celedón JC, Soto-Quiros ME, Avila L, Weiss ST, Barnes K, ... ... Nickerson DA, et al. De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population. Proceedings of the National Academy of Sciences of the United States of America. PMID 31964835 DOI: 10.1073/Pnas.1902766117 |
0.302 |
|
| 2020 |
Szeto MD, Raffield LM, Nickerson DA, Zakai NA, Klemm DJ, Taylor MR, Yang IV, Correa A, Reiner AP, Lange EM, Lange LA. Abstract 25: Epigenome-Wide DNA Methylation Analysis Reveals Novel Hematologic Trait Associations for African Americans in The Jackson Heart Study Circulation. 141. DOI: 10.1161/Circ.141.Suppl_1.25 |
0.301 |
|
| 2019 |
Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, ... ... Nickerson DA, et al. MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis. Brain : a Journal of Neurology. PMID 31834374 DOI: 10.1093/Brain/Awz379 |
0.355 |
|
| 2019 |
Dalton R, Lee SB, Claw KG, Prasad B, Phillips BR, Shen DD, Hong Wong L, Fade M, McDonald MG, Dunham MJ, Fowler DM, Rettie AE, Schuetz E, Thornton TA, Nickerson DA, et al. Interrogation of CYP2D6 structural variant alleles improves the correlation between CYP2D6 genotype and CYP2D6-mediated metabolic activity. Clinical and Translational Science. PMID 31536170 DOI: 10.1111/Cts.12695 |
0.385 |
|
| 2019 |
Bamshad MJ, Nickerson DA, Chong JX. Mendelian Gene Discovery: Fast and Furious with No End in Sight. American Journal of Human Genetics. 105: 448-455. PMID 31491408 DOI: 10.1016/J.Ajhg.2019.07.011 |
0.404 |
|
| 2019 |
Pinard A, Guey S, Guo D, Cecchi AC, Kharas N, Wallace S, Regalado ES, Hostetler EM, Sharrief AZ, Bergametti F, Kossorotoff M, Hervé D, Kraemer M, Bamshad MJ, Nickerson DA, et al. The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 31474762 DOI: 10.1038/S41436-019-0639-2 |
0.373 |
|
| 2019 |
Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, ... Nickerson DA, et al. Redefining the Etiologic Landscape of Cerebellar Malformations. American Journal of Human Genetics. PMID 31474318 DOI: 10.1016/J.Ajhg.2019.07.019 |
0.429 |
|
| 2019 |
Niu X, Amendola LM, Hart R, Bennette CS, Heagerty P, Horike-Pyne M, Trinidad SB, Rosenthal EA, Comstock B, Nefcy C, Hisama FM, Bennett RL, Grady WM, Gallego CJ, Tarczy-Hornoch P, ... ... Nickerson DA, et al. Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study. Contemporary Clinical Trials. 84: 105820. PMID 31400517 DOI: 10.1016/J.Cct.2019.105820 |
0.36 |
|
| 2019 |
Bien SA, Su YR, Conti DV, Harrison TA, Qu C, Guo X, Lu Y, Albanes D, Auer PL, Banbury BL, Berndt SI, Bézieau S, Brenner H, Buchanan DD, Caan BJ, ... ... Nickerson DA, et al. Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer. Human Genetics. PMID 31254090 DOI: 10.1007/S00439-019-02030-8 |
0.334 |
|
| 2019 |
Cox TC, Lidral AC, McCoy JC, Liu H, Cox LL, Zhu Y, Anderson RD, Moreno Uribe LM, Anand D, Deng M, Richter CT, Nidey NL, Standley JM, Blue EE, Chong JX, ... ... Nickerson DA, et al. Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans. Human Mutation. PMID 31215115 DOI: 10.1002/Humu.23793 |
0.408 |
|
| 2019 |
Lee SB, Wheeler MM, Thummel KE, Nickerson DA. Calling star alleles with Stargazer in 28 pharmacogenes with whole genome sequences. Clinical Pharmacology and Therapeutics. PMID 31206625 DOI: 10.1002/Cpt.1552 |
0.447 |
|
| 2019 |
Moore C, Blumhagen RZ, Yang IV, Walts A, Powers J, Walker T, Bishop M, Russell P, Vestal B, Cardwell J, Markin CR, Mathai SK, Schwarz MI, Steele MP, Lee J, ... ... Nickerson DA, et al. Resequencing Study Confirms Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis. American Journal of Respiratory and Critical Care Medicine. PMID 31034279 DOI: 10.1164/Rccm.201810-1891Oc |
0.328 |
|
| 2019 |
Ng BG, Lourenço CM, Losfeld ME, Buckingham KJ, Kircher M, Nickerson DA, Shendure J, Bamshad MJ, Freeze HH. Mutations in the translocon associated protein complex subunit SSR3 cause a novel Congenital Disorder of Glycosylation. Journal of Inherited Metabolic Disease. PMID 30945312 DOI: 10.1002/Jimd.12091 |
0.392 |
|
| 2019 |
Duan XY, Guo DC, Regalado ES, Shen H, Coselli JS, Estrera AL, Safi HJ, Bamshad MJ, Nickerson DA, LeMaire SA, De Backer J, Milewicz DM. SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections. European Journal of Human Genetics : Ejhg. PMID 30809044 DOI: 10.1038/S41431-019-0357-X |
0.358 |
|
| 2019 |
Negri G, Magini P, Milani D, Crippa M, Biamino E, Piccione M, Sotgiu S, Perrìa C, Vitiello G, Frontali M, Boni A, Di Fede E, Gandini MC, Colombo EA, Bamshad MJ, Nickerson DA, et al. Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders. Human Genetics. PMID 30806792 DOI: 10.1007/S00439-019-01985-Y |
0.447 |
|
| 2019 |
Patowary A, Won SY, Oh SJ, Nesbitt RR, Archer M, Nickerson D, Raskind WH, Bernier R, Lee JE, Brkanac Z. Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene. Translational Psychiatry. 9: 4. PMID 30664616 DOI: 10.1038/S41398-018-0343-Z |
0.428 |
|
| 2019 |
Posey JE, O'Donnell-Luria AH, Chong JX, Harel T, Jhangiani SN, Coban Akdemir ZH, Buyske S, Pehlivan D, Carvalho CMB, Baxter S, Sobreira N, Liu P, Wu N, Rosenfeld JA, Kumar S, ... Nickerson DA, et al. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30655598 DOI: 10.1038/S41436-018-0408-7 |
0.464 |
|
| 2018 |
LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, ... Nickerson DA, et al. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome. American Journal of Human Genetics. PMID 30554721 DOI: 10.1016/J.Ajhg.2018.11.005 |
0.479 |
|
| 2018 |
Qi H, Yu L, Zhou X, Wynn J, Zhao H, Guo Y, Zhu N, Kitaygorodsky A, Hernan R, Aspelund G, Lim FY, Crombleholme T, Cusick R, Azarow K, Danko ME, ... ... Nickerson D, et al. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. Plos Genetics. 14: e1007822. PMID 30532227 DOI: 10.1371/Journal.Pgen.1007822 |
0.477 |
|
| 2018 |
Helle E, Córdova-Palomera A, Ojala T, Saha P, Potiny P, Gustafsson S, Ingelsson E, Bamshad M, Nickerson D, Chong JX, Ashley E, Priest JR. Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts. Genetic Epidemiology. PMID 30511478 DOI: 10.1002/Gepi.22176 |
0.403 |
|
| 2018 |
Huyghe JR, Bien SA, Harrison TA, Kang HM, Chen S, Schmit SL, Conti DV, Qu C, Jeon J, Edlund CK, Greenside P, Wainberg M, Schumacher FR, Smith JD, Levine DM, ... ... Nickerson DA, et al. Discovery of common and rare genetic risk variants for colorectal cancer. Nature Genetics. PMID 30510241 DOI: 10.1038/S41588-018-0286-6 |
0.394 |
|
| 2018 |
Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ, Bamshad MJ, Nickerson DA, Bernier RA, et al. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30504930 DOI: 10.1038/S41436-018-0380-2 |
0.405 |
|
| 2018 |
Liaqat K, Schrauwen I, Raza SI, Lee K, Hussain S, Chakchouk I, Nasir A, Acharya A, Abbe I, Umair M, Ansar M, Ullah I, Shah K, Bamshad MJ, ... Nickerson DA, et al. Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significance. Journal of Human Genetics. PMID 30498240 DOI: 10.1038/S10038-018-0542-8 |
0.358 |
|
| 2018 |
Dobyns WB, Aldinger KA, Ishak GE, Mirzaa GM, Timms AE, Grout ME, Dremmen MHG, Schot R, Vandervore L, van Slegtenhorst MA, Wilke M, Kasteleijn E, Lee AS, Barry BJ, Chao KR, ... ... Nickerson DA, et al. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. American Journal of Human Genetics. PMID 30471716 DOI: 10.1016/J.Ajhg.2018.10.019 |
0.388 |
|
| 2018 |
Rope AF, Kauffman TL, Himes P, Amendola LM, Punj S, Akkari Y, Potter A, Davis JV, Schneider JL, Reiss JA, Gilmore MJ, McMullen CK, Nickerson DA, Richards CS, Jarvik GP, et al. A case for expanding carrier testing to include actionable X-linked disorders. Clinical Case Reports. 6: 2092-2095. PMID 30455898 DOI: 10.1002/Ccr3.1806 |
0.357 |
|
| 2018 |
Hanson-Kahn A, Li B, Cohn DH, Nickerson DA, Bamshad MJ, Hudgins L. Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation. American Journal of Medical Genetics. Part A. PMID 30450842 DOI: 10.1002/Ajmg.A.40647 |
0.345 |
|
| 2018 |
Lessel D, Ozel AB, Campbell SE, Saadi A, Arlt MF, McSweeney KM, Plaiasu V, Szakszon K, Szőllős A, Rusu C, Rojas AJ, Lopez-Valdez J, Thiele H, Nürnberg P, Nickerson DA, et al. Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations. Human Genetics. PMID 30450527 DOI: 10.1007/S00439-018-1957-1 |
0.394 |
|
| 2018 |
Wambach JA, Wegner DJ, Patni N, Kircher M, Willing MC, Baldridge D, Xing C, Agarwal AK, Vergano SAS, Patel C, Grange DK, Kenney A, Najaf T, Nickerson DA, Bamshad MJ, et al. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. American Journal of Human Genetics. PMID 30414627 DOI: 10.1016/J.Ajhg.2018.10.010 |
0.367 |
|
| 2018 |
Schrauwen I, Giese AP, Aziz A, Lafont DT, Chakchouk I, Santos-Cortez RLP, Lee K, Acharya A, Khan FS, Ullah A, Nickerson DA, Bamshad MJ, Ali G, Riazuddin S, et al. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. Journal of Bone and Mineral Research : the Official Journal of the American Society For Bone and Mineral Research. PMID 30395363 DOI: 10.1002/Jbmr.3594 |
0.401 |
|
| 2018 |
Polfus LM, Raffield LM, Wheeler MM, Tracy RP, Lange LA, Lettre G, Miller A, Correa A, Bowler RP, Bis JC, Salimi S, Jenny NS, Pankratz N, Wang B, Preuss MH, ... ... Nickerson DA, et al. Whole genome sequence association with E-selectin levels reveals Loss-of-function variant in African Americans. Human Molecular Genetics. PMID 30307499 DOI: 10.1093/Hmg/Ddy360 |
0.391 |
|
| 2018 |
Richard EM, Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Shahzad M, Acharya A, Khan AA, Imtiaz A, Chakchouk I, Takla C, Abbe I, Rafeeq M, Liaqat K, Chaudhry T, ... Nickerson DA, et al. Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss. Human Mutation. PMID 30303587 DOI: 10.1002/humu.23666 |
0.356 |
|
| 2018 |
Latif Z, Chakchouk I, Schrauwen I, Lee K, Santos-Cortez RLP, Abbe I, Acharya A, Jarral A, Ali I, Ullah E, Khan MN, Ali G, Tahir TH, Bamshad MJ, Nickerson DA, et al. Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa. Investigative Ophthalmology & Visual Science. 59: 4552-4557. PMID 30208423 DOI: 10.1167/Iovs.18-23849 |
0.408 |
|
| 2018 |
Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, ... Nickerson DA, et al. Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability. Human Genetics. PMID 30167849 DOI: 10.1007/S00439-018-1928-6 |
0.445 |
|
| 2018 |
Qiao D, Ameli A, Prokopenko D, Chen H, Kho AT, Parker MM, Morrow J, Hobbs BD, Liu Y, Beaty TH, Crapo JD, Barnes KC, Nickerson DA, Bamshad M, Hersh CP, et al. Whole exome sequencing analysis in severe chronic obstructive pulmonary disease. Human Molecular Genetics. PMID 30060175 DOI: 10.1093/Hmg/Ddy269 |
0.449 |
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| 2018 |
Schrauwen I, Chakchouk I, Liaqat K, Jan A, Nasir A, Hussain S, Nickerson DA, Bamshad MJ, Ullah A, Ahmad W, Leal SM. A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment. Human Genetics. PMID 29971487 DOI: 10.1007/S00439-018-1899-7 |
0.362 |
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| 2018 |
Wheeler MM, Lannert KW, Huston H, Fletcher SN, Harris S, Teramura G, Maki HJ, Frazar C, Underwood JG, Shaffer T, Correa A, Delaney M, Reiner AP, Wilson JG, Nickerson DA, et al. Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29955105 DOI: 10.1038/S41436-018-0074-9 |
0.367 |
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| 2018 |
Lee SB, Wheeler MM, Patterson K, McGee S, Dalton R, Woodahl EL, Gaedigk A, Thummel KE, Nickerson DA. Stargazer: a software tool for calling star alleles from next-generation sequencing data using CYP2D6 as a model. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29875422 DOI: 10.1038/S41436-018-0054-0 |
0.379 |
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| 2018 |
Cox LL, Cox TC, Moreno Uribe LM, Zhu Y, Richter CT, Nidey N, Standley JM, Deng M, Blue E, Chong JX, Yang Y, Carstens RP, Anand D, Lachke SA, Smith JD, ... Nickerson DA, et al. Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate. American Journal of Human Genetics. PMID 29805042 DOI: 10.1016/J.Ajhg.2018.04.009 |
0.427 |
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| 2018 |
Punj S, Akkari Y, Huang J, Yang F, Creason A, Pak C, Potter A, Dorschner MO, Nickerson DA, Robertson PD, Jarvik GP, Amendola LM, Schleit J, Simpson DK, Rope AF, et al. Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory. American Journal of Human Genetics. PMID 29754767 DOI: 10.1016/J.Ajhg.2018.04.004 |
0.448 |
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| 2018 |
Su YR, Di C, Bien S, Huang L, Dong X, Abecasis G, Berndt S, Bezieau S, Brenner H, Caan B, Casey G, Chang-Claude J, Chanock S, Chen S, Connolly C, ... Nickerson D, et al. A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics. American Journal of Human Genetics. 102: 904-919. PMID 29727690 DOI: 10.1016/J.Ajhg.2018.03.019 |
0.419 |
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| 2018 |
Tan KL, Haelterman NA, Kwartler CS, Regalado ES, Lee PT, Nagarkar-Jaiswal S, Guo DC, Duraine L, Wangler MF, Bamshad MJ, Nickerson DA, Lin G, Milewicz DM, Bellen HJ. Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms. Developmental Cell. 45: 226-244.e8. PMID 29689197 DOI: 10.1016/J.Devcel.2018.03.020 |
0.316 |
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| 2018 |
Guo DC, Regalado ES, Pinard A, Chen J, Lee K, Rigelsky C, Zilberberg L, Hostetler EM, Aldred M, Wallace SE, Prakash SK, Leal SM, Bamshad MJ, Nickerson DA, et al. LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections. American Journal of Human Genetics. 102: 706-712. PMID 29625025 DOI: 10.1016/J.Ajhg.2018.03.002 |
0.35 |
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| 2018 |
Bhatt DK, Basit A, Zhang H, Gaedigk A, Lee SB, Claw KG, Mehrotra A, Chaudhry AS, Pearce RE, Gaedigk R, Broeckel U, Thornton TA, Nickerson DA, Schuetz EG, Amory J, et al. Hepatic Abundance and Activity of Androgen and Drug Metabolizing Enzyme, UGT2B17, are Associated with Genotype, Age, and Sex. Drug Metabolism and Disposition: the Biological Fate of Chemicals. PMID 29602798 DOI: 10.1124/Dmd.118.080952 |
0.359 |
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| 2018 |
Sukenik Halevy R, Chien HC, Heinz B, Bamshad MJ, Nickerson DA, Kircher M, Ahituv N. Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. Human Mutation. PMID 29524275 DOI: 10.1002/Humu.23417 |
0.352 |
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| 2018 |
Khan BA, Robinson R, Fohner AE, Muzquiz LI, Schilling BD, Beans JA, Olnes MJ, Trawicki L, Frydenlund H, Laukes C, Beatty P, Phillips B, Nickerson D, Howlett K, Dillard DA, et al. Cytochrome P450 Genetic Variation Associated with Tamoxifen Biotransformation in American Indian and Alaska Native People. Clinical and Translational Science. PMID 29436156 DOI: 10.1111/Cts.12542 |
0.324 |
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| 2018 |
Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, ... ... Nickerson DA, et al. Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes. American Journal of Human Genetics. PMID 29394990 DOI: 10.1016/J.Ajhg.2017.12.015 |
0.396 |
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| 2018 |
Maselli RA, Arredondo J, Vázquez J, Chong JX, Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM. A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5. Annals of the New York Academy of Sciences. PMID 29377152 DOI: 10.1111/Nyas.13585 |
0.371 |
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| 2018 |
Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL. Genetic analysis of CHARGE syndrome identifies overlapping molecular biology. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29300383 DOI: 10.1038/Gim.2017.233 |
0.404 |
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| 2018 |
Wheeler MM, Konkle BA, Watson C, Pierce GF, Nickerson DA, Johnsen JM. Novel Structural Variants Originating in F8 Non-Coding Regions in Previously Unresolved Cases of Severe Hemophilia A Blood. 132: 379-379. DOI: 10.1182/Blood-2018-99-112690 |
0.387 |
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| 2017 |
Tracewska-Siemiątkowska A, Haer-Wigman L, Bosch DGM, Nickerson D, Bamshad MJ, van de Vorst M, Rendtorff ND, Möller C, Kjellström U, Andréasson S, Cremers FPM, Tranebjærg L. An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. Genes. 8. PMID 29232904 DOI: 10.3390/Genes8120381 |
0.415 |
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| 2017 |
Bien SA, Auer PL, Harrison TA, Qu C, Connolly CM, Greenside PG, Chen S, Berndt SI, Bézieau S, Kang HM, Huyghe J, Brenner H, Casey G, Chan AT, Hopper JL, ... ... Nickerson DA, et al. Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data. Plos One. 12: e0186518. PMID 29161273 DOI: 10.1371/Journal.Pone.0186518 |
0.39 |
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| 2017 |
Sanghvi RV, Buhay CJ, Powell BC, Tsai EA, Dorschner MO, Hong CS, Lebo MS, Sasson A, Hanna DS, McGee S, Bowling KM, Cooper GM, Gray DE, Lonigro RJ, Dunford A, ... ... Nickerson DA, et al. Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 29144510 DOI: 10.1038/Gim.2017.192 |
0.384 |
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| 2017 |
Mori T, Yousefzadeh MJ, Faridounnia M, Chong JX, Hisama FM, Hudgins L, Mercado G, Wade EA, Barghouthy AS, Lee L, Martin GM, Nickerson DA, Bamshad MJ, Niedernhofer LJ, et al. ERCC4 Variants Identified in a Cohort of Patients with Segmental Progeroid Syndromes. Human Mutation. PMID 29105242 DOI: 10.1002/Humu.23367 |
0.399 |
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| 2017 |
Zhang W, Taylor SP, Ennis HA, Forlenza KN, Duran I, Li B, Sanchez JAO, Nevarez L, Nickerson DA, Bamshad M, Lachman RS, Krakow D, Cohn DH. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Human Mutation. PMID 29068549 DOI: 10.1002/Humu.23362 |
0.437 |
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| 2017 |
Mavroudis CD, Seung Kim D, Burnham N, Morss AH, Kim JH, Burt AA, Crosslin DR, McDonald-McGinn DM, Zackai EH, Cohen MS, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Russell MW, et al. A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHD. Cardiology in the Young. 1-7. PMID 28927471 DOI: 10.1017/S1047951117001391 |
0.323 |
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| 2017 |
Santos-Cortez RLP, Hu Y, Sun F, Benahmed-Miniuk F, Tao J, Kanaujiya JK, Ademola S, Fadiora S, Odesina V, Nickerson DA, Bamshad MJ, Olaitan PB, Oluwatosin OM, Leal SM, Reichenberger EJ. Identification of ASAH1 as a susceptibility gene for familial keloids. European Journal of Human Genetics : Ejhg. 25: 1155-1161. PMID 28905881 DOI: 10.1038/Ejhg.2017.121 |
0.454 |
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| 2017 |
Said E, Chong JX, Hempel M, Denecke J, Soler P, Strom T, Nickerson DA, Kubisch C, Bamshad MJ, Lessel D. Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1. American Journal of Medical Genetics. Part A. PMID 28884921 DOI: 10.1002/Ajmg.A.38406 |
0.342 |
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| 2017 |
Ng BG, Asteggiano CG, Kircher M, Buckingham KJ, Raymond K, Nickerson DA, Shendure J, Bamshad MJ, Ensslen M, Freeze HH. Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1. American Journal of Medical Genetics. Part A. PMID 28856833 DOI: 10.1002/Ajmg.A.38412 |
0.308 |
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| 2017 |
Xu M, Bhatt DK, Yeung CK, Claw KG, Chaudhry AS, Gaedigk A, Pearce RE, Broeckel U, Gaedigk R, Nickerson D, Schuetz E, Rettie AE, Leeder S, Thummel KE, Prasad B. Genetic and Non-genetic Factors Associated with Protein Abundance of Flavin-containing Monooxygenase 3 in Human Liver. The Journal of Pharmacology and Experimental Therapeutics. PMID 28819071 DOI: 10.1124/Jpet.117.243113 |
0.343 |
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| 2017 |
Keller RB, Tran TT, Pyott SM, Pepin MG, Savarirayan R, McGillivray G, Nickerson DA, Bamshad MJ, Byers PH. Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28817112 DOI: 10.1038/Gim.2017.115 |
0.424 |
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| 2017 |
Balasubramanian K, Li B, Krakow D, Nevarez L, Ho PJ, Ainsworth JA, Nickerson DA, Bamshad MJ, Immken L, Lachman RS, Cohn DH. MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1. American Journal of Medical Genetics. Part A. PMID 28742282 DOI: 10.1002/Ajmg.A.38349 |
0.394 |
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| 2017 |
Liu N, Irvin MR, Zhi D, Patki A, Beasley TM, Nickerson DA, Hill CE, Chen J, Kimmel SE, Limdi NA. Influence of common and rare genetic variation on warfarin dose among African-Americans and European-Americans using the exome array. Pharmacogenomics. PMID 28686080 DOI: 10.2217/Pgs-2017-0046 |
0.372 |
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| 2017 |
Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, ... Nickerson DA, et al. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. American Journal of Human Genetics. PMID 28625504 DOI: 10.1016/J.Ajhg.2017.05.010 |
0.409 |
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| 2017 |
Maselli RA, Arredondo J, Vázquez J, Chong JX, Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM. Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission. American Journal of Medical Genetics. Part A. PMID 28544784 DOI: 10.1002/Ajmg.A.38291 |
0.357 |
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| 2017 |
Khan S, Ansar M, Kamal Khan A, Shah K, Muhammad N, Shahzad S, Nickerson DA, Bamshad MJ, Santos-Cortez RLP, Leal SM, Ahmad W. A Homozygous Missense Mutation in SLC25A16 is Associated with Autosomal Recessive Isolated Fingernail Dysplasia in a Pakistani Family. The British Journal of Dermatology. PMID 28504827 DOI: 10.1111/Bjd.15661 |
0.336 |
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| 2017 |
Duran I, Taylor SP, Zhang W, Martin J, Qureshi F, Jacques SM, Wallerstein R, Lachman RS, Nickerson DA, Bamshad M, Cohn DH, Krakow D. Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. Cilia. 6: 7. PMID 28400947 DOI: 10.1186/S13630-017-0051-Y |
0.348 |
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| 2017 |
Kim DS, Burt AA, Ranchalis JE, Wilmot B, Smith JD, Patterson KE, Coe BP, Li YK, Bamshad MJ, Nikolas M, Eichler EE, Swanson JM, Nigg JT, Nickerson DA, Jarvik GP, et al. Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 28332277 DOI: 10.1002/Ajmg.B.32527 |
0.365 |
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| 2017 |
Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ, Van Hove JL, Freeze HH, et al. Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion. PMID 28216230 DOI: 10.1016/J.Mito.2017.02.004 |
0.342 |
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| 2017 |
Zieba J, Zhang W, Chong JX, Forlenza KN, Martin JH, Heard K, Grange DK, Butler MG, Kleefstra T, Lachman RS, Nickerson D, Regnier M, Cohn DH, Bamshad M, Krakow D. A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. Scientific Reports. 7: 41803. PMID 28205584 DOI: 10.1038/Srep41803 |
0.342 |
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| 2017 |
Himes P, Kauffman TL, Muessig KR, Amendola LM, Berg JS, Dorschner MO, Gilmore M, Nickerson DA, Reiss JA, Richards CS, Rope AF, Simpson DK, Wilfond BS, Jarvik GP, Goddard KA. Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28079899 DOI: 10.1038/Gim.2016.198 |
0.362 |
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| 2017 |
Bien SA, Guo X, Su Y, Harrison TA, Qu C, Lu Y, Long J, Chen S, Chan AT, Conti DV, Kang HM, Hoffmeister M, Hudson TJ, Jenkins MA, Marchand LL, ... ... Nickerson DA, et al. Abstract 1300: Genetic predictors of gene expression associated with risk of colorectal cancer Epidemiology. 77: 1300-1300. DOI: 10.1158/1538-7445.Am2017-1300 |
0.324 |
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| 2017 |
Bonora E, Bianco F, Agnese S, Diquigiovanni C, Rinaldi R, D'Angelo R, Cogliandro R, Smith JD, Nickerson D, Bamshad M, Assadi G, Clavenzani P, Lindberg G, D'Amato M, Graziano C, et al. Novel Mutations in Neurogenic Chronic Intestinal Pseudo-Obstruction Identified by High-Throughput Sequencing Gastroenterology. 152: S129. DOI: 10.1016/S0016-5085(17)30765-5 |
0.327 |
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| 2016 |
Rubinstein M, Patowary A, Stanaway IB, McCord E, Nesbitt RR, Archer M, Scheuer T, Nickerson D, Raskind WH, Wijsman EM, Bernier R, Catterall WA, Brkanac Z. Association of rare missense variants in the second intracellular loop of Na1.7 sodium channels with familial autism. Molecular Psychiatry. 23: 231-239. PMID 27956748 DOI: 10.1038/Mp.2016.222 |
0.388 |
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| 2016 |
Kauffman TL, Wilfond BS, Jarvik GP, Leo MC, Lynch FL, Reiss JA, Sue Richards C, McMullen C, Nickerson D, Dorschner MO, Goddard KA. Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing. Contemporary Clinical Trials. PMID 27940182 DOI: 10.1016/J.Cct.2016.12.007 |
0.347 |
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| 2016 |
Guo DC, Duan XY, Regalado ES, Mellor-Crummey L, Kwartler CS, Kim D, Lieberman K, de Vries BB, Pfundt R, Schinzel A, Kotzot D, Shen X, Yang ML, Bamshad MJ, ... Nickerson DA, et al. Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease. American Journal of Human Genetics. PMID 27939641 DOI: 10.1016/J.Ajhg.2016.11.008 |
0.362 |
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| 2016 |
Badiner N, Taylor SP, Forlenza K, Lachman RS, Bamshad M, Nickerson D, Cohn DH, Krakow D. Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan type. Clinical Genetics. PMID 27925158 DOI: 10.1111/Cge.12947 |
0.348 |
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| 2016 |
Turner TN, Yi Q, Krumm N, Huddleston J, Hoekzema K, F Stessman HA, Doebley AL, Bernier RA, Nickerson DA, Eichler EE. denovo-db: a compendium of human de novo variants. Nucleic Acids Research. PMID 27907889 DOI: 10.1093/Nar/Gkw865 |
0.445 |
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| 2016 |
Srichomkwun P, Takamatsu J, Nickerson DA, Bamshad MJ, Chong JX, Refetoff S. DUOX2 gene mutation manifesting as resistance to thyrotropin (RTSH) phenotype. Thyroid : Official Journal of the American Thyroid Association. PMID 27821020 DOI: 10.1089/Thy.2016.0469 |
0.36 |
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| 2016 |
Kapferer-Seebacher I, Pepin M, Werner R, Aitman TJ, Nordgren A, Stoiber H, Thielens N, Gaboriaud C, Amberger A, Schossig A, Gruber R, Giunta C, Bamshad M, Björck E, Chen C, ... ... Nickerson DA, et al. Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. American Journal of Human Genetics. PMID 27745832 DOI: 10.1016/J.Ajhg.2016.08.019 |
0.375 |
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| 2016 |
Duran I, Taylor SP, Zhang W, Martin J, Forlenza KN, Spiro RP, Nickerson DA, Bamshad M, Cohn DH, Krakow D. Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome. Scientific Reports. 6: 34232. PMID 27666822 DOI: 10.1038/Srep34232 |
0.337 |
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| 2016 |
Auer PL, Reiner AP, Wang G, Kang HM, Abecasis GR, Altshuler D, Bamshad MJ, Nickerson DA, Tracy RP, Rich SS, Leal SM. Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project. American Journal of Human Genetics. PMID 27666372 DOI: 10.1016/J.Ajhg.2016.08.012 |
0.435 |
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| 2016 |
Lubitz SA, Brody JA, Bihlmeyer NA, Roselli C, Weng LC, Christophersen IE, Alonso A, Boerwinkle E, Gibbs RA, Bis JC, Cupples LA, Mohler PJ, Nickerson DA, Muzny D, et al. Whole Exome Sequencing in Atrial Fibrillation. Plos Genetics. 12: e1006284. PMID 27589061 DOI: 10.1371/Journal.Pgen.1006284 |
0.412 |
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| 2016 |
Fox K, Johnsen JM, Coe BP, Frazar CD, Reiner AP, Eichler EE, Nickerson DA. Analysis of exome sequencing data sets reveals structural variation in the coding region of ABO in individuals of African ancestry. Transfusion. PMID 27580710 DOI: 10.1111/Trf.13797 |
0.331 |
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| 2016 |
McCarthy S, Das S, Kretzschmar W, Delaneau O, Wood AR, Teumer A, Kang HM, Fuchsberger C, Danecek P, Sharp K, Luo Y, Sidore C, Kwong A, Timpson N, Koskinen S, ... ... Nickerson D, et al. A reference panel of 64,976 haplotypes for genotype imputation. Nature Genetics. PMID 27548312 DOI: 10.1038/Ng.3643 |
0.41 |
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| 2016 |
Weinstein MM, Kang T, Lachman RS, Bamshad M, Nickerson DA, Cohn DH. Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia. American Journal of Medical Genetics. Part A. PMID 27530454 DOI: 10.1002/Ajmg.A.37942 |
0.412 |
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| 2016 |
Wheeler PG, Ng BG, Sanford L, Sutton VR, Bartholomew DW, Pastore MT, Bamshad MJ, Kircher M, Buckingham KJ, Nickerson DA, Shendure J, Freeze HH. SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. American Journal of Medical Genetics. Part A. PMID 27480077 DOI: 10.1002/Ajmg.A.37875 |
0.308 |
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| 2016 |
Zhang W, Taylor SP, Nevarez L, Lachman RS, Nickerson DA, Bamshad M, Krakow D, Cohn DH. IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome. Human Molecular Genetics. PMID 27466190 DOI: 10.1093/Hmg/Ddw241 |
0.331 |
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| 2016 |
Taylor SP, Bosakova MK, Varecha M, Balek L, Barta T, Trantirek L, Jelinkova I, Duran I, Vesela I, Forlenza KN, Martin JH, Hampl A, Bamshad M, Nickerson D, et al. An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signaling and causes short rib-polydactyly syndrome. Human Molecular Genetics. PMID 27466187 DOI: 10.1093/Hmg/Ddw240 |
0.371 |
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| 2016 |
Peloso GM, Lange LA, Varga TV, Nickerson DA, Smith JD, Griswold ME, Musani S, Polfus LM, Mei H, Gabriel S, Quarells RC, Altshuler D, Boerwinkle E, Daly MJ, Neale B, et al. Association of Exome Sequences with Cardiovascular Traits among African Americans in the Jackson Heart Study. Circulation. Cardiovascular Genetics. PMID 27422940 DOI: 10.1161/Circgenetics.116.001410 |
0.45 |
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| 2016 |
Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, ... ... Nickerson DA, et al. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. American Journal of Human Genetics. 99: 246. PMID 27392080 DOI: 10.1016/J.Ajhg.2016.06.002 |
0.307 |
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| 2016 |
Du M, Jiao S, Bien SA, Gala M, Abecasis G, Bezieau S, Brenner H, Butterbach K, Caan BJ, Carlson CS, Casey G, Chang-Claude J, Conti DV, Curtis KR, Duggan D, ... ... Nickerson DA, et al. Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants. Plos One. 11: e0157521. PMID 27379672 DOI: 10.1371/Journal.Pone.0157521 |
0.405 |
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| 2016 |
Tajuddin SM, Schick UM, Eicher JD, Chami N, Giri A, Brody JA, Hill WD, Kacprowski T, Li J, Lyytikäinen LP, Manichaikul A, Mihailov E, O'Donoghue ML, Pankratz N, Pazoki R, ... Nickerson DA, et al. Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases. American Journal of Human Genetics. PMID 27346689 DOI: 10.1016/J.Ajhg.2016.05.003 |
0.416 |
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| 2016 |
Eicher JD, Chami N, Kacprowski T, Nomura A, Chen MH, Yanek LR, Tajuddin SM, Schick UM, Slater AJ, Pankratz N, Polfus L, Schurmann C, Giri A, Brody JA, Lange LA, ... ... Nickerson DA, et al. Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals. American Journal of Human Genetics. PMID 27346686 DOI: 10.1016/J.Ajhg.2016.05.005 |
0.365 |
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| 2016 |
Chami N, Chen MH, Slater AJ, Eicher JD, Evangelou E, Tajuddin SM, Love-Gregory L, Kacprowski T, Schick UM, Nomura A, Giri A, Lessard S, Brody JA, Schurmann C, Pankratz N, ... Nickerson DA, et al. Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits. American Journal of Human Genetics. PMID 27346685 DOI: 10.1016/J.Ajhg.2016.05.007 |
0.46 |
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| 2016 |
Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. American Journal of Human Genetics. 98: 1146-1158. PMID 27259050 DOI: 10.1016/J.Ajhg.2016.04.009 |
0.407 |
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| 2016 |
Rosenthal EA, Makaryan V, Burt AA, Crosslin DR, Kim DS, Smith JD, Nickerson DA, Reiner AP, Rich SS, Jackson RD, Ganesh SK, Polfus LM, Qi L, Dale DC, et al. Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project. Genetic Epidemiology. PMID 27229898 DOI: 10.1002/Gepi.21976 |
0.411 |
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| 2016 |
Green RC, Goddard KA, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, ... ... Nickerson DA, et al. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. American Journal of Human Genetics. PMID 27181682 DOI: 10.1016/J.Ajhg.2016.04.011 |
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| 2016 |
Priest JR, Osoegawa K, Mohammed N, Nanda V, Kundu R, Schultz K, Lammer EJ, Girirajan S, Scheetz T, Waggott D, Haddad F, Reddy S, Bernstein D, Burns T, Steimle JD, ... ... Nickerson D, et al. De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. Plos Genetics. 12: e1005963. PMID 27058611 DOI: 10.1371/Journal.Pgen.1005963 |
0.452 |
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| 2016 |
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, ... ... Nickerson DA, et al. ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. Human Mutation. PMID 26931382 DOI: 10.1002/Humu.22983 |
0.351 |
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| 2016 |
Shah K, Ali RH, Ansar M, Lee K, Chishti MS, Abbe I, Li B, Smith JD, Nickerson DA, Shendure J, Coucke PJ, Steyaert W, Bamshad MJ, Santos-Cortez RL, et al. Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP. Bmc Medical Genetics. 17: 13. PMID 26880286 DOI: 10.1186/S12881-016-0275-5 |
0.331 |
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| 2016 |
Kuang SQ, Medina-Martinez O, Guo DC, Gong L, Regalado ES, Reynolds CL, Boileau C, Jondeau G, Prakash SK, Kwartler CS, Zhu LY, Peters AM, Duan XY, Bamshad MJ, Shendure J, ... Nickerson DA, et al. FOXE3 mutations predispose to thoracic aortic aneurysms and dissections. The Journal of Clinical Investigation. PMID 26854927 DOI: 10.1172/Jci83778 |
0.317 |
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| 2016 |
Guo D, Regalado ES, Gong L, Duan X, Santos-Cortez RL, Arnaud P, Ren Z, Cai B, Hostetler EM, Moran R, Liang D, Estrera AL, Safi HJ, Leal SM, Bamshad MJ, ... ... Nickerson DA, et al. LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections. Circulation Research. PMID 26838787 DOI: 10.1161/Circresaha.115.307130 |
0.302 |
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| 2016 |
Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, ... ... Nickerson DA, et al. Autosomal-Recessive Hearing Impairment due to Rare Missense Variants within S1PR2. American Journal of Human Genetics. PMID 26805784 DOI: 10.1016/J.Ajhg.2015.12.004 |
0.364 |
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| 2016 |
Wallace S, Guo DC, Regalado E, Mellor-Crummey L, Banshad M, Nickerson DA, Dauser R, Hanchard N, Marom R, Martin E, Berka V, Sharina I, Ganesan V, Saunders D, Morris S, et al. Disrupted Nitric Oxide Signaling due to GUCY1A3 Mutations Increases Risk for Moyamoya Disease, Achalasia and Hypertension. Clinical Genetics. PMID 26777256 DOI: 10.1111/Cge.12739 |
0.347 |
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| 2016 |
Kan M, Auer PL, Wang GT, Bucasas KL, Hooker S, Rodriguez A, Li B, Ellis J, Adrienne Cupples L, Ida Chen YD, Dupuis J, Fox CS, Gross MD, Smith JD, Heard-Costa N, ... ... Nickerson DA, et al. Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project. European Journal of Human Genetics : Ejhg. PMID 26757982 DOI: 10.1038/Ejhg.2015.272 |
0.311 |
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| 2016 |
Van Driest SL, Wells QS, Stallings S, Bush WS, Gordon A, Nickerson DA, Kim JH, Crosslin DR, Jarvik GP, Carrell DS, Ralston JD, Larson EB, Bielinski SJ, Olson JE, Ye Z, et al. Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. Jama. 315: 47-57. PMID 26746457 DOI: 10.1001/Jama.2015.17701 |
0.396 |
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| 2016 |
Gordon AS, Fulton RS, Qin X, Mardis ER, Nickerson DA, Scherer S. PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation. Pharmacogenetics and Genomics. PMID 26736087 DOI: 10.1097/Fpc.0000000000000202 |
0.361 |
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| 2016 |
Wheeler M, Frazar C, Lannert K, Fletcher SN, Huston H, Harris S, Delaney M, Nickerson D, Johnsen J. Prediction of MNS Blood Group Antigens Using Next Generation Sequencing Blood. 128: 1458-1458. DOI: 10.1182/Blood.V128.22.1458.1458 |
0.368 |
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| 2016 |
Bien SA, Harrison TA, Auer PL, Qu F, Huyghe J, Banbury B, Greenside P, Abecasis GR, Berndt SI, Bézieau S, Brenner H, Casey G, Chan AT, Chang-Claude J, Chen S, ... ... Nickerson DA, et al. Abstract 4489: Using functional data from Roadmap Epigenomics to inform analysis of rare variants linked to gene expression in a large colorectal cancer study Cancer Research. 76: 4489-4489. DOI: 10.1158/1538-7445.Am2016-4489 |
0.359 |
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| 2015 |
Turner TN, Hormozdiari F, Duyzend MH, McClymont SA, Hook PW, Iossifov I, Raja A, Baker C, Hoekzema K, Stessman HA, Zody MC, Nelson BJ, Huddleston J, Sandstrom R, Smith JD, ... Nickerson DA, et al. Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. American Journal of Human Genetics. PMID 26749308 DOI: 10.1016/J.Ajhg.2015.11.023 |
0.462 |
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| 2015 |
Duyzend MH, Nuttle X, Coe BP, Baker C, Nickerson DA, Bernier R, Eichler EE. Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. American Journal of Human Genetics. PMID 26749307 DOI: 10.1016/J.Ajhg.2015.11.017 |
0.37 |
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| 2015 |
Ansar M, Jan A, Santos-Cortez RL, Wang X, Suliman M, Acharya A, Habib R, Abbe I, Ali G, Lee K, Smith JD, Nickerson DA, Shendure J, Bamshad MJ, et al. Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability. European Journal of Human Genetics : Ejhg. PMID 26695873 DOI: 10.1038/Ejhg.2015.260 |
0.384 |
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| 2015 |
Mathai SK, Pedersen BS, Smith K, Russell P, Schwarz MI, Brown KK, Steele MP, Loyd JE, Crapo JD, Silverman EK, Nickerson D, Fingerlin TE, Yang IV, Schwartz DA. Desmoplakin (DSP) Variants are Associated with Idiopathic Pulmonary Fibrosis. American Journal of Respiratory and Critical Care Medicine. PMID 26669357 DOI: 10.1164/Rccm.201509-1863Oc |
0.393 |
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| 2015 |
Regalado ES, Guo DC, Santos-Cortez RL, Hostetler E, Bensend TA, Pannu H, Estrera A, Safi H, Mitchell AL, Evans JP, Leal SM, Bamshad M, Shendure J, Nickerson DA, et al. Pathogenic FBN1 Variants in Familial Thoracic Aortic Aneurysms and Dissections. Clinical Genetics. PMID 26621581 DOI: 10.1111/Cge.12702 |
0.374 |
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| 2015 |
Staples J, Ekunwe L, Lange E, Wilson JG, Nickerson DA, Below JE. PRIMUS: Improving Pedigree Reconstruction using Mitochondrial and Y Haplotypes. Bioinformatics (Oxford, England). PMID 26515822 DOI: 10.1093/Bioinformatics/Btv618 |
0.343 |
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| 2015 |
Kalman LV, Agúndez JA, Appell ML, Black JL, Bell GC, Boukouvala S, Bruckner C, Bruford E, Bruckner C, Caudle K, Coulthard S, Daly AK, Del Tredici AL, den Dunnen JT, Drozda K, ... ... Nickerson DA, et al. Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting. Clinical Pharmacology and Therapeutics. PMID 26479518 DOI: 10.1002/Cpt.280 |
0.365 |
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| 2015 |
Gao L, Emond MJ, Louie T, Cheadle C, Berger AE, Rafaels N, Vergara C, Kim Y, Taub MA, Ruczinski I, Mathai SC, Rich SS, Nickerson DA, Hummers LK, Bamshad MJ, et al. Whole-exome sequencing identifies rare variants in ATP8B4 as a risk factor for systemic sclerosis. Arthritis & Rheumatology (Hoboken, N.J.). PMID 26473621 DOI: 10.1002/Art.39449 |
0.366 |
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| 2015 |
Reinier F, Zoledziewska M, Hanna D, Smith JD, Valentini M, Zara I, Berutti R, Sanna S, Oppo M, Cusano R, Satta R, Montesu MA, Jones C, Cerimele D, Nickerson DA, et al. Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies. Metabolism: Clinical and Experimental. PMID 26350127 DOI: 10.1016/J.Metabol.2015.07.022 |
0.337 |
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| 2015 |
Ng BG, Raymond K, Kircher M, Buckingham KJ, Wood T, Shendure J, Nickerson DA, Bamshad MJ, Wong JT, Monteiro FP, Graham BH, Jackson S, Sparkes R, Scheuerle AE, Cathey S, et al. Expanding the Molecular and Clinical Phenotype of SSR4-CDG. Human Mutation. PMID 26264460 DOI: 10.1002/Humu.22856 |
0.406 |
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| 2015 |
Crosslin DR, Robertson PD, Carrell DS, Gordon AS, Hanna DS, Burt A, Fullerton SM, Scrol A, Ralston J, Leppig K, Hartzler A, Baldwin E, Andrade Md, Kullo IJ, Tromp G, ... ... Nickerson DA, et al. Prospective participant selection and ranking to maximize actionable pharmacogenetic variants and discovery in the eMERGE Network. Genome Medicine. 7: 67. PMID 26221186 DOI: 10.1186/S13073-015-0181-Z |
0.338 |
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| 2015 |
Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N, Smith JD, Harrell TM, McMillin MJ, Wiszniewski W, Gambin T, Coban Akdemir ZH, Doheny K, Scott AF, Avramopoulos D, Chakravarti A, ... ... Nickerson DA, et al. The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities. American Journal of Human Genetics. 97: 199-215. PMID 26166479 DOI: 10.1016/J.Ajhg.2015.06.009 |
0.469 |
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| 2015 |
Santos-Cortez RL, Chiong CM, Reyes-Quintos MR, Tantoco ML, Wang X, Acharya A, Abbe I, Giese AP, Smith JD, Allen EK, Li B, Cutiongco-de la Paz EM, Garcia MC, Llanes EG, Labra PJ, ... ... Nickerson DA, et al. Rare A2ML1 variants confer susceptibility to otitis media. Nature Genetics. PMID 26121085 DOI: 10.1038/Ng.3347 |
0.33 |
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| 2015 |
Ansar M, Santos-Cortez RL, Saqib MA, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS, Amin-Ud-Din M, Smith JD, Shendure J, Bamshad MJ, ... Nickerson DA, et al. Mutation of ATF6 causes autosomal recessive achromatopsia. Human Genetics. PMID 26063662 DOI: 10.1007/S00439-015-1571-4 |
0.368 |
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| 2015 |
Emond MJ, Louie T, Emerson J, Chong JX, Mathias RA, Knowles MR, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC, Go L, Gibson RL, Bamshad MJ. Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis. Plos Genetics. 11: e1005273. PMID 26047157 DOI: 10.1371/Journal.Pgen.1005273 |
0.408 |
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| 2015 |
Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, Chen WM, Cupples LA, DeStefano AL, Fornage M, Hardy J, ... ... Nickerson DA, et al. Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project. Jama Neurology. 72: 781-8. PMID 25961151 DOI: 10.1001/Jamaneurol.2015.0582 |
0.34 |
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| 2015 |
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, ... ... Nickerson DA, et al. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. American Journal of Human Genetics. 96: 841-9. PMID 25957469 DOI: 10.1016/J.Ajhg.2015.04.004 |
0.383 |
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| 2015 |
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN, Bocian M, Foulds N, Uzielli ML, Haldeman-Englert C, Hennekam RC, ... ... Nickerson DA, et al. De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. American Journal of Human Genetics. 96: 462-73. PMID 25683120 DOI: 10.1016/J.Ajhg.2015.01.003 |
0.369 |
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| 2015 |
Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, ... ... Nickerson DA, et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Research. 25: 305-15. PMID 25637381 DOI: 10.1101/Gr.183483.114 |
0.417 |
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| 2015 |
Stitziel NO, Peloso GM, Abifadel M, Cefalu AB, Fouchier S, Motazacker MM, Tada H, Larach DB, Awan Z, Haller JF, Pullinger CR, Varret M, Rabès JP, Noto D, Tarugi P, ... ... Nickerson DA, et al. Exome sequencing in suspected monogenic dyslipidemias. Circulation. Cardiovascular Genetics. 8: 343-50. PMID 25632026 DOI: 10.1161/Circgenetics.114.000776 |
0.361 |
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| 2015 |
McLaren CE, Emond MJ, Subramaniam VN, Phatak PD, Barton JC, Adams PC, Goh JB, McDonald CJ, Powell LW, Gurrin LC, Allen KJ, Nickerson DA, Louie T, Ramm GA, Anderson GJ, et al. Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload. Hepatology (Baltimore, Md.). PMID 25605615 DOI: 10.1002/Hep.27711 |
0.352 |
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| 2015 |
Guo DC, Gong L, Regalado ES, Santos-Cortez RL, Zhao R, Cai B, Veeraraghavan S, Prakash SK, Johnson RJ, Muilenburg A, Willing M, Jondeau G, Boileau C, Pannu H, Moran R, ... ... Nickerson DA, et al. MAT2A mutations predispose individuals to thoracic aortic aneurysms. American Journal of Human Genetics. 96: 170-7. PMID 25557781 DOI: 10.1016/J.Ajhg.2014.11.015 |
0.384 |
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| 2015 |
Do R, Stitziel NO, Won HH, Jørgensen AB, Duga S, Angelica Merlini P, Kiezun A, Farrall M, Goel A, Zuk O, Guella I, Asselta R, Lange LA, Peloso GM, Auer PL, ... ... Nickerson DA, et al. Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature. 518: 102-6. PMID 25487149 DOI: 10.1038/Nature13917 |
0.386 |
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| 2015 |
O'Connor TD, Fu W, Mychaleckyj JC, Logsdon B, Auer P, Carlson CS, Leal SM, Smith JD, Rieder MJ, Bamshad MJ, Nickerson DA, Akey JM. Rare variation facilitates inferences of fine-scale population structure in humans. Molecular Biology and Evolution. 32: 653-60. PMID 25415970 DOI: 10.1093/Molbev/Msu326 |
0.358 |
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| 2015 |
Schick UM, Auer PL, Bis JC, Lin H, Wei P, Pankratz N, Lange LA, Brody J, Stitziel NO, Kim DS, Carlson CS, Fornage M, Haessler J, Hsu L, Jackson RD, ... ... Nickerson DA, et al. Association of exome sequences with plasma C-reactive protein levels in >9000 participants. Human Molecular Genetics. 24: 559-71. PMID 25187575 DOI: 10.1093/Hmg/Ddu450 |
0.445 |
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| 2014 |
Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, ... Nickerson DA, et al. Challenges and solutions for gene identification in the presence of familial locus heterogeneity. European Journal of Human Genetics : Ejhg. PMID 25491636 DOI: 10.1038/Ejhg.2014.266 |
0.446 |
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| 2014 |
Staples J, Qiao D, Cho MH, Silverman EK, Nickerson DA, Below JE. PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent. American Journal of Human Genetics. 95: 553-64. PMID 25439724 DOI: 10.1016/J.Ajhg.2014.10.005 |
0.354 |
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| 2014 |
O'Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, Vives L, Baker C, Hiatt JB, Nickerson DA, Bernier R, Shendure J, Eichler EE. Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nature Communications. 5: 5595. PMID 25418537 DOI: 10.1038/Ncomms6595 |
0.39 |
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| 2014 |
Cecchi AC, Guo D, Ren Z, Flynn K, Santos-Cortez RL, Leal SM, Wang GT, Regalado ES, Steinberg GK, Shendure J, Bamshad MJ, Grotta JC, Nickerson DA, Pannu H, et al. RNF213 rare variants in an ethnically diverse population with Moyamoya disease. Stroke; a Journal of Cerebral Circulation. 45: 3200-7. PMID 25278557 DOI: 10.1161/Strokeaha.114.006244 |
0.344 |
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| 2014 |
Jamuar SS, Lam AT, Kircher M, D'Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, ... ... Nickerson DA, et al. Somatic mutations in cerebral cortical malformations. The New England Journal of Medicine. 371: 733-43. PMID 25140959 DOI: 10.1056/Nejmoa1314432 |
0.398 |
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| 2014 |
Smith JD, Hing AV, Clarke CM, Johnson NM, Perez FA, Park SS, Horst JA, Mecham B, Maves L, Nickerson DA, Cunningham ML. Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. American Journal of Human Genetics. 95: 235-40. PMID 25105228 DOI: 10.1016/J.Ajhg.2014.07.008 |
0.402 |
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| 2014 |
Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA, Bamshad MJ. Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. American Journal of Human Genetics. 95: 183-93. PMID 25087612 DOI: 10.1016/J.Ajhg.2014.07.006 |
0.434 |
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| 2014 |
Du M, Auer PL, Jiao S, Haessler J, Altshuler D, Boerwinkle E, Carlson CS, Carty CL, Chen YD, Curtis K, Franceschini N, Hsu L, Jackson R, Lange LA, Lettre G, ... ... Nickerson DA, et al. Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans. Human Molecular Genetics. 23: 6607-15. PMID 25027330 DOI: 10.1093/Hmg/Ddu361 |
0.309 |
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| 2014 |
Zare H, Wang J, Hu A, Weber K, Smith J, Nickerson D, Song C, Witten D, Blau CA, Noble WS. Inferring clonal composition from multiple sections of a breast cancer. Plos Computational Biology. 10: e1003703. PMID 25010360 DOI: 10.1200/Jco.2014.32.15_Suppl.11077 |
0.317 |
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| 2014 |
Gallego CJ, Bennette CS, Heagerty P, Comstock B, Horike-Pyne M, Hisama F, Amendola LM, Bennett RL, Dorschner MO, Tarczy-Hornoch P, Grady WM, Fullerton SM, Trinidad SB, Regier DA, Nickerson DA, et al. Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes. Contemporary Clinical Trials. 39: 1-8. PMID 24997220 DOI: 10.1016/J.Cct.2014.06.016 |
0.348 |
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| 2014 |
Rasmussen-Torvik LJ, Stallings SC, Gordon AS, Almoguera B, Basford MA, Bielinski SJ, Brautbar A, Brilliant MH, Carrell DS, Connolly JJ, Crosslin DR, Doheny KF, Gallego CJ, Gottesman O, Kim DS, ... ... Nickerson DA, et al. Design and anticipated outcomes of the eMERGE-PGx project: a multicenter pilot for preemptive pharmacogenomics in electronic health record systems. Clinical Pharmacology and Therapeutics. 96: 482-9. PMID 24960519 DOI: 10.1038/Clpt.2014.137 |
0.311 |
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| 2014 |
Crosby J, Peloso GM, Auer PL, Crosslin DR, Stitziel NO, Lange LA, Lu Y, Tang ZZ, Zhang H, Hindy G, Masca N, Stirrups K, Kanoni S, Do R, ... ... Nickerson DA, et al. Loss-of-function mutations in APOC3, triglycerides, and coronary disease. The New England Journal of Medicine. 371: 22-31. PMID 24941081 DOI: 10.1056/Nejmoa1307095 |
0.382 |
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| 2014 |
Makaryan V, Rosenthal EA, Bolyard AA, Kelley ML, Below JE, Bamshad MJ, Bofferding KM, Smith JD, Buckingham K, Boxer LA, Skokowa J, Welte K, Nickerson DA, Jarvik GP, Dale DC, et al. TCIRG1-associated congenital neutropenia. Human Mutation. 35: 824-7. PMID 24753205 DOI: 10.1002/Humu.22563 |
0.435 |
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| 2014 |
Kim DS, Crosslin DR, Auer PL, Suzuki SM, Marsillach J, Burt AA, Gordon AS, Meschia JF, Nalls MA, Worrall BB, Longstreth WT, Gottesman RF, Furlong CE, Peters U, Rich SS, ... Nickerson DA, et al. Rare coding variation in paraoxonase-1 is associated with ischemic stroke in the NHLBI Exome Sequencing Project. Journal of Lipid Research. 55: 1173-1178. PMID 24711634 DOI: 10.1194/Jlr.P049247 |
0.347 |
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| 2014 |
Knowles MR, Ostrowski LE, Leigh MW, Sears PR, Davis SD, Wolf WE, Hazucha MJ, Carson JL, Olivier KN, Sagel SD, Rosenfeld M, Ferkol TW, Dell SD, Milla CE, Randell SH, ... ... Nickerson DA, et al. Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. American Journal of Respiratory and Critical Care Medicine. 189: 707-17. PMID 24568568 DOI: 10.1164/Rccm.201311-2047Oc |
0.406 |
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| 2014 |
Weeke P, Mosley JD, Hanna D, Delaney JT, Shaffer C, Wells QS, Van Driest S, Karnes JH, Ingram C, Guo Y, Shyr Y, Norris K, Kannankeril PJ, Ramirez AH, Smith JD, ... ... Nickerson D, et al. Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. Journal of the American College of Cardiology. 63: 1430-7. PMID 24561134 DOI: 10.1016/J.Jacc.2014.01.031 |
0.326 |
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| 2014 |
Lange LA, Hu Y, Zhang H, Xue C, Schmidt EM, Tang ZZ, Bizon C, Lange EM, Smith JD, Turner EH, Jun G, Kang HM, Peloso G, Auer P, Li KP, ... ... Nickerson DA, et al. Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. American Journal of Human Genetics. 94: 233-45. PMID 24507775 DOI: 10.1016/J.Ajhg.2014.01.010 |
0.428 |
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| 2014 |
Logsdon BA, Dai JY, Auer PL, Johnsen JM, Ganesh SK, Smith NL, Wilson JG, Tracy RP, Lange LA, Jiao S, Rich SS, Lettre G, Carlson CS, Jackson RD, O'Donnell CJ, ... ... Nickerson DA, et al. A variational Bayes discrete mixture test for rare variant association. Genetic Epidemiology. 38: 21-30. PMID 24482836 DOI: 10.1002/Gepi.21772 |
0.412 |
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| 2014 |
Santos-Cortez RL, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Hussain Ali R, Smith JD, Shendure J, Bamshad M, Nickerson DA, et al. Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish. Human Molecular Genetics. 23: 3289-98. PMID 24482543 DOI: 10.1093/Hmg/Ddu042 |
0.337 |
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| 2014 |
Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI, Nickerson DA, Shendure J, et al. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. American Journal of Human Genetics. 94: 144-52. PMID 24387994 DOI: 10.1016/J.Ajhg.2013.12.004 |
0.425 |
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| 2014 |
He Z, O'Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RL, Li B, Kan M, Krumm N, Nickerson DA, Shendure J, Eichler EE, Leal SM. Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. American Journal of Human Genetics. 94: 33-46. PMID 24360806 DOI: 10.1016/J.Ajhg.2013.11.021 |
0.372 |
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| 2014 |
Gordon AS, Tabor HK, Johnson AD, Snively BM, Assimes TL, Auer PL, Ioannidis JP, Peters U, Robinson JG, Sucheston LE, Wang D, Sotoodehnia N, Rotter JI, Psaty BM, Jackson RD, ... Nickerson DA, et al. Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset. Human Molecular Genetics. 23: 1957-63. PMID 24282029 DOI: 10.1093/Hmg/Ddt588 |
0.449 |
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| 2014 |
Losfeld ME, Ng BG, Kircher M, Buckingham KJ, Turner EH, Eroshkin A, Smith JD, Shendure J, Nickerson DA, Bamshad MJ, Freeze HH. A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex. Human Molecular Genetics. 23: 1602-5. PMID 24218363 DOI: 10.1093/Hmg/Ddt550 |
0.355 |
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| 2014 |
Wei WQ, Feng Q, Jiang L, Waitara MS, Iwuchukwu OF, Roden DM, Jiang M, Xu H, Krauss RM, Rotter JI, Nickerson DA, Davis RL, Berg RL, Peissig PL, McCarty CA, et al. Characterization of statin dose response in electronic medical records. Clinical Pharmacology and Therapeutics. 95: 331-8. PMID 24096969 DOI: 10.1038/Clpt.2013.202 |
0.318 |
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| 2014 |
Milewicz DM, Regalado ES, Shendure J, Nickerson DA, Guo DC. Successes and challenges of using whole exome sequencing to identify novel genes underlying an inherited predisposition for thoracic aortic aneurysms and acute aortic dissections. Trends in Cardiovascular Medicine. 24: 53-60. PMID 23953976 DOI: 10.1016/J.Tcm.2013.06.004 |
0.381 |
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| 2014 |
McLaren GD, Emond MJ, Subramaniam VN, Phatak PD, Barton JC, Adams PC, Goh JB, McDonald CJ, Powell LW, Gurrin LC, Allen KJ, Nickerson DA, Louie T, Ramm GA, Anderson GJ, et al. Exome Sequencing Identifies a GNPAT Variant Associated with Severe Iron Overload in HFE C282Y Homozygous Men with Extreme Phenotypes; Possible Role in Regulation of Hepcidin Expression Blood. 124: 745-745. DOI: 10.1182/Blood.V124.21.745.745 |
0.344 |
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| 2014 |
Du M, Jiao S, Rosse SA, Gala M, Abecasis G, Bezieau S, Brenner H, Casey G, Chang-Claude J, Gallinger S, Hudson TJ, Küry S, Marchand LL, Leal SM, Newcomb PA, ... Nickerson DA, et al. Abstract 2190: Fine-mapping of common genetic variants associated with colorectal tumor risk identified potential functional variants Cancer Research. 74: 2190-2190. DOI: 10.1158/1538-7445.Am2014-2190 |
0.408 |
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| 2013 |
Rosenthal EA, Ranchalis J, Crosslin DR, Burt A, Brunzell JD, Motulsky AG, Nickerson DA, Wijsman EM, Jarvik GP. Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia. American Journal of Human Genetics. 93: 1035-45. PMID 24268658 DOI: 10.1016/J.Ajhg.2013.10.019 |
0.485 |
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| 2013 |
Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS, Tabor HK, ... ... Nickerson DA, et al. Actionable, pathogenic incidental findings in 1,000 participants' exomes. American Journal of Human Genetics. 93: 631-40. PMID 24055113 DOI: 10.1016/J.Ajhg.2013.08.006 |
0.436 |
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| 2013 |
Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, ... Nickerson DA, et al. Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. American Journal of Human Genetics. 93: 711-20. PMID 24055112 DOI: 10.1016/J.Ajhg.2013.07.025 |
0.405 |
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| 2013 |
Johnsen JM, Nickerson DA, Reiner AP. Massively parallel sequencing: the new frontier of hematologic genomics. Blood. 122: 3268-75. PMID 24021669 DOI: 10.1182/Blood-2013-07-460287 |
0.387 |
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| 2013 |
Kim JH, Jarvik GP, Browning BL, Rajagopalan R, Gordon AS, Rieder MJ, Robertson PD, Nickerson DA, Fisher NA, Hopkins PM. Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families. Anesthesiology. 119: 1054-65. PMID 24013571 DOI: 10.1097/Aln.0B013E3182A8A998 |
0.384 |
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| 2013 |
Mangravite LM, Engelhardt BE, Medina MW, Smith JD, Brown CD, Chasman DI, Mecham BH, Howie B, Shim H, Naidoo D, Feng Q, Rieder MJ, Chen YD, Rotter JI, Ridker PM, ... ... Nickerson DA, et al. A statin-dependent QTL for GATM expression is associated with statin-induced myopathy. Nature. 502: 377-80. PMID 23995691 DOI: 10.1038/Nature12508 |
0.368 |
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| 2013 |
Duan Q, Liu EY, Auer PL, Zhang G, Lange EM, Jun G, Bizon C, Jiao S, Buyske S, Franceschini N, Carlson CS, Hsu L, Reiner AP, Peters U, Haessler J, ... ... Nickerson DA, et al. Imputation of coding variants in African Americans: better performance using data from the exome sequencing project. Bioinformatics (Oxford, England). 29: 2744-9. PMID 23956302 DOI: 10.1093/Bioinformatics/Btt477 |
0.374 |
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| 2013 |
Guo DC, Regalado E, Casteel DE, Santos-Cortez RL, Gong L, Kim JJ, Dyack S, Horne SG, Chang G, Jondeau G, Boileau C, Coselli JS, Li Z, Leal SM, Shendure J, ... ... Nickerson DA, et al. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. American Journal of Human Genetics. 93: 398-404. PMID 23910461 DOI: 10.1016/J.Ajhg.2013.06.019 |
0.334 |
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| 2013 |
Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD, Nickerson DA, McDermott BM, et al. Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89. American Journal of Human Genetics. 93: 132-40. PMID 23768514 DOI: 10.1016/J.Ajhg.2013.05.018 |
0.398 |
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| 2013 |
Johnsen JM, Auer PL, Morrison AC, Jiao S, Wei P, Haessler J, Fox K, McGee SR, Smith JD, Carlson CS, Smith N, Boerwinkle E, Kooperberg C, Nickerson DA, Rich SS, et al. Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project. Blood. 122: 590-7. PMID 23690449 DOI: 10.1182/Blood-2013-02-485094 |
0.375 |
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| 2013 |
Korvatska O, Strand NS, Berndt JD, Strovas T, Chen DH, Leverenz JB, Kiianitsa K, Mata IF, Karakoc E, Greenup JL, Bonkowski E, Chuang J, Moon RT, Eichler EE, Nickerson DA, et al. Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). Human Molecular Genetics. 22: 3259-68. PMID 23595882 DOI: 10.1093/Hmg/Ddt180 |
0.39 |
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| 2013 |
Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, ... Nickerson DA, et al. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. American Journal of Human Genetics. 92: 632-6. PMID 23561849 DOI: 10.1016/J.Ajhg.2013.03.012 |
0.38 |
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| 2013 |
Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, ... ... Nickerson DA, et al. Mutations in KCTD1 cause scalp-ear-nipple syndrome. American Journal of Human Genetics. 92: 621-6. PMID 23541344 DOI: 10.1016/J.Ajhg.2013.03.002 |
0.34 |
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| 2013 |
Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, Guo S, Gonzalez M, Hedges DJ, Robertson PD, Krumm N, Nickerson DA, Hershberger RE. Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circulation. Cardiovascular Genetics. 6: 144-53. PMID 23418287 DOI: 10.1161/Circgenetics.111.000062 |
0.378 |
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| 2013 |
Knowles MR, Leigh MW, Ostrowski LE, Huang L, Carson JL, Hazucha MJ, Yin W, Berg JS, Davis SD, Dell SD, Ferkol TW, Rosenfeld M, Sagel SD, Milla CE, Olivier KN, ... Nickerson DA, et al. Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. American Journal of Human Genetics. 92: 99-106. PMID 23261302 DOI: 10.1016/J.Ajhg.2012.11.003 |
0.412 |
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| 2013 |
Luquetti DV, Hing AV, Rieder MJ, Nickerson DA, Turner EH, Smith J, Park S, Cunningham ML. "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. American Journal of Medical Genetics. Part A. 161: 108-13. PMID 23239648 DOI: 10.1002/Ajmg.A.35696 |
0.337 |
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| 2013 |
Fu W, O'Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, Gabriel S, Rieder MJ, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ, Akey JM. Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature. 493: 216-20. PMID 23201682 DOI: 10.1038/Nature11690 |
0.326 |
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| 2013 |
Kim DS, Burt AA, Crosslin DR, Robertson PD, Ranchalis JE, Boyko EJ, Nickerson DA, Furlong CE, Jarvik GP. Novel common and rare genetic determinants of paraoxonase activity: FTO, SERPINA12, and ITGAL. Journal of Lipid Research. 54: 552-60. PMID 23160181 DOI: 10.1194/Jlr.P033266 |
0.437 |
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| 2013 |
Mikacenic C, Reiner AP, Holden TD, Nickerson DA, Wurfel MM. Variation in the TLR10/TLR1/TLR6 locus is the major genetic determinant of interindividual difference in TLR1/2-mediated responses. Genes and Immunity. 14: 52-7. PMID 23151486 DOI: 10.1038/Gene.2012.53 |
0.347 |
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| 2013 |
Ramirez AH, Shaffer CM, Delaney JT, Sexton DP, Levy SE, Rieder MJ, Nickerson DA, George AL, Roden DM. Novel rare variants in congenital cardiac arrhythmia genes are frequent in drug-induced torsades de pointes. The Pharmacogenomics Journal. 13: 325-9. PMID 22584458 DOI: 10.1038/Tpj.2012.14 |
0.306 |
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| 2013 |
Rosenthal E, Bolyard AA, Kelley ML, Below J, Bamshad M, Bofferding KM, Smith JD, Buckingham K, Boxer LA, Skokowa J, Welte K, Nickerson DA, Jarvik GP, Dale DC. TCIRG1 Associated Congenital Neutropenia Blood. 122: 440-440. DOI: 10.1182/Blood.V122.21.440.440 |
0.429 |
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| 2013 |
McLaren CE, Emond MJ, Phatak PD, Adams PC, Subramaniam VN, Barton JC, Powell LW, Gurrin LC, Allen KJ, Nickerson DA, Louie T, Ramm GA, Anderson GJ, McLaren GD. Exome Sequencing Identifies Genes and Variant Alleles Associated With Severity Of Iron Overload In Hemochromatosis HFE C282Y Homozygotes Blood. 122: 179-179. DOI: 10.1182/Blood.V122.21.179.179 |
0.365 |
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| 2013 |
Fu W, O’Connor TD, Jun G, Kang HM, Abecasis G, Leal SM, Gabriel S, Rieder MJ, Altshuler D, Shendure J, Nickerson DA, Bamshad MJ, Project NES, Akey JM. Erratum: Corrigendum: Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants Nature. 495: 270-270. DOI: 10.1038/Nature12022 |
0.324 |
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| 2012 |
Marchani EE, Chapman NH, Cheung CY, Ankenman K, Stanaway IB, Coon HH, Nickerson D, Bernier R, Brkanac Z, Wijsman EM. Identification of rare variants from exome sequence in a large pedigree with autism. Human Heredity. 74: 153-64. PMID 23594493 DOI: 10.1159/000346560 |
0.475 |
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| 2012 |
Kim DS, Stanaway IB, Rajagopalan R, Bernbaum JC, Solot CB, Burnham N, Zackai EH, Clancy RR, Nicolson SC, Gerdes M, Nickerson DA, Hakonarson H, Gaynor JW, Jarvik GP. Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy. Plos One. 7: e45936. PMID 23049896 DOI: 10.1371/Journal.Pone.0045936 |
0.306 |
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| 2012 |
Horani A, Druley TE, Zariwala MA, Patel AC, Levinson BT, Van Arendonk LG, Thornton KC, Giacalone JC, Albee AJ, Wilson KS, Turner EH, Nickerson DA, Shendure J, Bayly PV, Leigh MW, et al. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. American Journal of Human Genetics. 91: 685-93. PMID 23040496 DOI: 10.1016/J.Ajhg.2012.08.022 |
0.442 |
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| 2012 |
Lee S, Emond MJ, Bamshad MJ, Barnes KC, Rieder MJ, Nickerson DA, Christiani DC, Wurfel MM, Lin X. Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. American Journal of Human Genetics. 91: 224-37. PMID 22863193 DOI: 10.1016/J.Ajhg.2012.06.007 |
0.351 |
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| 2012 |
Chen YZ, Matsushita MM, Robertson P, Rieder M, Girirajan S, Antonacci F, Lipe H, Eichler EE, Nickerson DA, Bird TD, Raskind WH. Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. Archives of Neurology. 69: 630-5. PMID 22782511 DOI: 10.1001/Archneurol.2012.54 |
0.477 |
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| 2012 |
Emond MJ, Louie T, Emerson J, Zhao W, Mathias RA, Knowles MR, Wright FA, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC, Gibson RL, Bamshad MJ. Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nature Genetics. 44: 886-9. PMID 22772370 DOI: 10.1038/Ng.2344 |
0.326 |
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| 2012 |
Bamshad MJ, Shendure JA, Valle D, Hamosh A, Lupski JR, Gibbs RA, Boerwinkle E, Lifton RP, Gerstein M, Gunel M, Mane S, Nickerson DA. The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. American Journal of Medical Genetics. Part A. 158: 1523-5. PMID 22628075 DOI: 10.1002/Ajmg.A.35470 |
0.4 |
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| 2012 |
Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, ... Nickerson DA, et al. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (New York, N.Y.). 337: 64-9. PMID 22604720 DOI: 10.1126/Science.1219240 |
0.341 |
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| 2012 |
Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP, Quinlan AR, Nickerson DA, Eichler EE. Copy number variation detection and genotyping from exome sequence data. Genome Research. 22: 1525-32. PMID 22585873 DOI: 10.1101/Gr.138115.112 |
0.345 |
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| 2012 |
Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, et al. A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. American Journal of Human Genetics. 90: 907-14. PMID 22560091 DOI: 10.1016/J.Ajhg.2012.04.002 |
0.379 |
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| 2012 |
Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, ... ... Nickerson DA, et al. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. American Journal of Human Genetics. 90: 925-33. PMID 22541558 DOI: 10.1016/J.Ajhg.2012.04.004 |
0.393 |
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| 2012 |
O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, ... Nickerson DA, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 485: 246-50. PMID 22495309 DOI: 10.1038/Nature10989 |
0.313 |
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| 2012 |
Dastani Z, Hivert MF, Timpson N, Perry JR, Yuan X, Scott RA, Henneman P, Heid IM, Kizer JR, Lyytikäinen LP, Fuchsberger C, Tanaka T, Morris AP, Small K, Isaacs A, ... ... Nickerson DA, et al. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. Plos Genetics. 8: e1002607. PMID 22479202 DOI: 10.1371/Journal.Pgen.1002607 |
0.339 |
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| 2012 |
Norton N, Robertson PD, Rieder MJ, Züchner S, Rampersaud E, Martin E, Li D, Nickerson DA, Hershberger RE. Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era Circulation: Cardiovascular Genetics. 5: 167-174. PMID 22337857 DOI: 10.1161/Circgenetics.111.961805 |
0.411 |
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| 2012 |
Karakoc E, Alkan C, O'Roak BJ, Dennis MY, Vives L, Mark K, Rieder MJ, Nickerson DA, Eichler EE. Detection of structural variants and indels within exome data. Nature Methods. 9: 176-8. PMID 22179552 DOI: 10.1038/Nmeth.1810 |
0.355 |
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| 2012 |
Chen YZ, Matsushita M, Girirajan S, Lisowski M, Sun E, Sul Y, Bernier R, Estes A, Dawson G, Minshew N, Shellenberg GD, Eichler EE, Rieder MJ, Nickerson DA, Tsuang DW, et al. Evidence for involvement of GNB1L in autism. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 159: 61-71. PMID 22095694 DOI: 10.1002/Ajmg.B.32002 |
0.347 |
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| 2012 |
O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, MacKenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, et al. Corrigendum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (Nature Genetics (2011) 43, (585-589)) Nature Genetics. 44: 471. DOI: 10.1038/Ng0412-471 |
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| 2012 |
Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, et al. Erratum: A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome ((The American Journal of Human Genetics (2012) 90 (907-914)) American Journal of Human Genetics. 90. DOI: 10.1016/J.Ajhg.2012.05.013 |
0.334 |
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| 2011 |
Sivakumaran TA, Igo RP, Kidd JM, Itsara A, Kopplin LJ, Chen W, Hagstrom SA, Peachey NS, Francis PJ, Klein ML, Chew EY, Ramprasad VL, Tay WT, Mitchell P, Seielstad M, ... ... Nickerson DA, et al. A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. Plos One. 6: e25598. PMID 22022419 DOI: 10.1371/Journal.Pone.0025598 |
0.375 |
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| 2011 |
Kumar A, White TA, MacKenzie AP, Clegg N, Lee C, Dumpit RF, Coleman I, Ng SB, Salipante SJ, Rieder MJ, Nickerson DA, Corey E, Lange PH, Morrissey C, Vessella RL, et al. Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers. Proceedings of the National Academy of Sciences of the United States of America. 108: 17087-92. PMID 21949389 DOI: 10.1073/Pnas.1108745108 |
0.333 |
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| 2011 |
Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J. Exome sequencing as a tool for Mendelian disease gene discovery. Nature Reviews. Genetics. 12: 745-55. PMID 21946919 DOI: 10.1038/Nrg3031 |
0.319 |
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| 2011 |
Rosenthal EA, Ronald J, Rothstein J, Rajagopalan R, Ranchalis J, Wolfbauer G, Albers JJ, Brunzell JD, Motulsky AG, Rieder MJ, Nickerson DA, Wijsman EM, Jarvik GP. Linkage and association of phospholipid transfer protein activity to LASS4. Journal of Lipid Research. 52: 1837-46. PMID 21757428 DOI: 10.1194/Jlr.P016576 |
0.375 |
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| 2011 |
Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, ... ... Nickerson DA, et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. American Journal of Medical Genetics. Part A. 155: 1511-6. PMID 21671394 DOI: 10.1002/Ajmg.A.34074 |
0.354 |
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| 2011 |
Innocenti F, Cooper GM, Stanaway IB, Gamazon ER, Smith JD, Mirkov S, Ramirez J, Liu W, Lin YS, Moloney C, Aldred SF, Trinklein ND, Schuetz E, Nickerson DA, Thummel KE, et al. Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. Plos Genetics. 7: e1002078. PMID 21637794 DOI: 10.1371/Journal.Pgen.1002078 |
0.405 |
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| 2011 |
O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genetics. 43: 585-9. PMID 21572417 DOI: 10.1038/Ng.835 |
0.313 |
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| 2011 |
McLaren CE, Garner CP, Constantine CC, McLachlan S, Vulpe CD, Snively BM, Gordeuk VR, Nickerson DA, Cook JD, Leiendecker-Foster C, Beckman KB, Eckfeldt JH, Barcellos LF, Murray JA, Adams PC, et al. Genome-wide association study identifies genetic loci associated with iron deficiency. Plos One. 6: e17390. PMID 21483845 DOI: 10.1182/Blood.V114.22.4048.4048 |
0.387 |
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| 2011 |
Bielinski SJ, Reiner AP, Nickerson D, Carlson C, Bailey KR, Thyagarajan B, Lange LA, Boerwinkle EA, Jacobs DR, Gross MD. Polymorphisms in the ICAM1 gene predict circulating soluble intercellular adhesion molecule-1(sICAM-1). Atherosclerosis. 216: 390-4. PMID 21392767 DOI: 10.1016/J.Atherosclerosis.2011.02.018 |
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| 2011 |
Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Züchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, Hershberger RE. Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy American Journal of Human Genetics. 88: 273-282. PMID 21353195 DOI: 10.1016/J.Ajhg.2011.01.016 |
0.462 |
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| 2011 |
Dumitrescu L, Glenn K, Brown-Gentry K, Shephard C, Wong M, Rieder MJ, Smith JD, Nickerson DA, Crawford DC. Variation in LPA is associated with Lp(a) levels in three populations from the third National Health and Nutrition Examination Survey Plos One. 6. PMID 21305047 DOI: 10.1371/Journal.Pone.0016604 |
0.334 |
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| 2010 |
Ng SB, Nickerson DA, Bamshad MJ, Shendure J. Massively parallel sequencing and rare disease. Human Molecular Genetics. 19: R119-24. PMID 20846941 DOI: 10.1093/Hmg/Ddq390 |
0.456 |
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| 2010 |
Itsara A, Wu H, Smith JD, Nickerson DA, Romieu I, London SJ, Eichler EE. De novo rates and selection of large copy number variation. Genome Research. 20: 1469-81. PMID 20841430 DOI: 10.1101/Gr.107680.110 |
0.415 |
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| 2010 |
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, ... Nickerson DA, et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nature Genetics. 42: 790-3. PMID 20711175 DOI: 10.1038/Ng.646 |
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| 2010 |
Igartua C, Turner EH, Ng SB, Hodges E, Hannon GJ, Bhattacharjee A, Rieder MJ, Nickerson DA, Shendure J. Targeted enrichment of specific regions in the human genome by array hybridization. Current Protocols in Human Genetics / Editorial Board, Jonathan L. Haines ... [Et Al.]. Unit 18.3. PMID 20582915 DOI: 10.1002/0471142905.Hg1803S66 |
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| 2010 |
Cooper GM, Goode DL, Ng SB, Sidow A, Bamshad MJ, Shendure J, Nickerson DA. Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nature Methods. 7: 250-1. PMID 20354513 DOI: 10.1038/Nmeth0410-250 |
0.479 |
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| 2010 |
Jarvik GP, Rajagopalan R, Rosenthal EA, Wolfbauer G, McKinstry L, Vaze A, Brunzell J, Motulsky AG, Nickerson DA, Heagerty PJ, Wijsman EM, Albers JJ. Genetic and nongenetic sources of variation in phospholipid transfer protein activity. Journal of Lipid Research. 51: 983-90. PMID 19965587 DOI: 10.1194/Jlr.M000125 |
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| 2010 |
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Exome sequencing identifies the cause of a mendelian disorder. Nature Genetics. 42: 30-5. PMID 19915526 DOI: 10.1038/Ng.499 |
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| 2010 |
Zerr T, Cooper GM, Eichler EE, Nickerson DA. Targeted interrogation of copy number variation using SCIMMkit. Bioinformatics (Oxford, England). 26: 120-2. PMID 19846438 DOI: 10.1093/Bioinformatics/Btp606 |
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| 2009 |
Reiner AP, Gross MD, Carlson CS, Bielinski SJ, Lange LA, Fornage M, Jenny NS, Walston J, Tracy RP, Williams OD, Jacobs DR, Nickerson DA. Common coding variants of the HNF1A gene are associated with multiple cardiovascular risk phenotypes in community-based samples of younger and older European-American adults: the Coronary Artery Risk Development in Young Adults Study and The Cardiovascular Health Study. Circulation. Cardiovascular Genetics. 2: 244-54. PMID 20031592 DOI: 10.1161/Circgenetics.108.839506 |
0.32 |
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| 2009 |
Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J. Targeted capture and massively parallel sequencing of 12 human exomes. Nature. 461: 272-6. PMID 19684571 DOI: 10.1038/Nature08250 |
0.369 |
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| 2009 |
Crawford DC, Zheng N, Speelmon EC, Stanaway I, Rieder MJ, Nickerson DA, McElrath MJ, Lingappa J. An excess of rare genetic variation in ABCE1 among Yorubans and African-American individuals with HIV-1 Genes and Immunity. 10: 715-721. PMID 19657357 DOI: 10.1038/Gene.2009.57 |
0.349 |
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| 2009 |
Turner EH, Ng SB, Nickerson DA, Shendure J. Methods for genomic partitioning. Annual Review of Genomics and Human Genetics. 10: 263-84. PMID 19630561 DOI: 10.1146/Annurev-Genom-082908-150112 |
0.363 |
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| 2009 |
Mefford HC, Cooper GM, Zerr T, Smith JD, Baker C, Shafer N, Thorland EC, Skinner C, Schwartz CE, Nickerson DA, Eichler EE. A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Research. 19: 1579-85. PMID 19506092 DOI: 10.1101/Gr.094987.109 |
0.417 |
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| 2009 |
Turner EH, Lee C, Ng SB, Nickerson DA, Shendure J. Massively parallel exon capture and library-free resequencing across 16 genomes. Nature Methods. 6: 315-6. PMID 19349981 DOI: 10.1038/Nmeth.F.248 |
0.369 |
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| 2009 |
Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE. Population analysis of large copy number variants and hotspots of human genetic disease. American Journal of Human Genetics. 84: 148-61. PMID 19166990 DOI: 10.1016/J.Ajhg.2008.12.014 |
0.448 |
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| 2009 |
Ober C, Nord AS, Thompson EE, Pan L, Tan Z, Cusanovich D, Sun Y, Nicolae R, Edelstein C, Schneider DH, Billstrand C, Pfaffinger D, Phillips N, Anderson RL, Philips B, ... ... Nickerson DA, et al. Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q. Journal of Lipid Research. 50: 798-806. PMID 19124843 DOI: 10.1194/Jlr.M800515-Jlr200 |
0.385 |
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| 2008 |
Keating BJ, Tischfield S, Murray SS, Bhangale T, Price TS, Glessner JT, Galver L, Barrett JC, Grant SF, Farlow DN, Chandrupatla HR, Hansen M, Ajmal S, Papanicolaou GJ, Guo Y, ... Nickerson DA, et al. Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. Plos One. 3: e3583. PMID 18974833 DOI: 10.1371/Journal.Pone.0003583 |
0.719 |
|
| 2008 |
Paschou P, Drineas P, Lewis J, Nievergelt CM, Nickerson DA, Smith JD, Ridker PM, Chasman DI, Krauss RM, Ziv E. Tracing sub-structure in the European American population with PCA-informative markers. Plos Genetics. 4: e1000114. PMID 18797516 DOI: 10.1371/Journal.Pgen.1000114 |
0.377 |
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| 2008 |
Cooper GM, Zerr T, Kidd JM, Eichler EE, Nickerson DA. Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nature Genetics. 40: 1199-203. PMID 18776910 DOI: 10.1038/Ng.236 |
0.4 |
|
| 2008 |
Wurfel MM, Gordon AC, Holden TD, Radella F, Strout J, Kajikawa O, Ruzinski JT, Rona G, Black RA, Stratton S, Jarvik GP, Hajjar AM, Nickerson DA, Rieder M, Sevransky J, et al. Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis. American Journal of Respiratory and Critical Care Medicine. 178: 710-20. PMID 18635889 DOI: 10.1164/Rccm.200803-462Oc |
0.336 |
|
| 2008 |
Crawford DC, Peng Z, Cheng JF, Boffelli D, Ahearn M, Nguyen D, Shaffer T, Yi Q, Livingston RJ, Rieder MJ, Nickerson DA. LPA and PLG sequence variation and kringle IV-2 copy number in two populations Human Heredity. 66: 199-209. PMID 18612205 DOI: 10.1159/000143403 |
0.329 |
|
| 2008 |
Crawford DC, Zimmer SM, Morin CA, Messonnier NE, Lynfield R, Yi Q, Shephard C, Wong M, Rieder MJ, Livingston RJ, Nickerson DA, Whitney CG, Lingappa J. Integrating host genomics with surveillance for invasive bacterial diseases Emerging Infectious Diseases. 14: 1138-1140. PMID 18598642 DOI: 10.3201/Eid1407.071287 |
0.315 |
|
| 2008 |
Bhangale TR, Rieder MJ, Nickerson DA. Estimating coverage and power for genetic association studies using near-complete variation data Nature Genetics. 40: 841-843. PMID 18568023 DOI: 10.1038/Ng.180 |
0.681 |
|
| 2008 |
Rieder MJ, Livingston RJ, Stanaway IB, Nickerson DA. The Environmental Genome Project: Reference polymorphisms for drug metabolism genes and genome-wide association studies Drug Metabolism Reviews. 40: 241-261. PMID 18464045 DOI: 10.1080/03602530801952880 |
0.42 |
|
| 2008 |
Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, ... ... Nickerson DA, et al. Mapping and sequencing of structural variation from eight human genomes. Nature. 453: 56-64. PMID 18451855 DOI: 10.1038/Nature06862 |
0.304 |
|
| 2008 |
Reiner AP, Wurfel MM, Lange LA, Carlson CS, Nord AS, Carty CL, Rieder MJ, Desmarais C, Jenny NS, Iribarren C, Walston JD, Williams OD, Nickerson DA, Jarvik GP. Polymorphisms of the IL1-receptor antagonist gene (IL1RN) are associated with multiple markers of systemic inflammation. Arteriosclerosis, Thrombosis, and Vascular Biology. 28: 1407-12. PMID 18451331 DOI: 10.1161/Atvbaha.108.167437 |
0.302 |
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| 2008 |
Reiner AP, Barber MJ, Guan Y, Ridker PM, Lange LA, Chasman DI, Walston JD, Cooper GM, Jenny NS, Rieder MJ, Durda JP, Smith JD, Novembre J, Tracy RP, Rotter JI, ... ... Nickerson DA, et al. Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. American Journal of Human Genetics. 82: 1193-201. PMID 18439552 DOI: 10.1016/J.Ajhg.2008.03.017 |
0.379 |
|
| 2008 |
Carty CL, Cushman M, Jones D, Lange LA, Hindorff LA, Rice K, Jenny NS, Durda JP, Walston J, Carlson CS, Nickerson D, Tracy RP, Reiner AP. Associations between common fibrinogen gene polymorphisms and cardiovascular disease in older adults. The Cardiovascular Health Study. Thrombosis and Haemostasis. 99: 388-95. PMID 18278190 DOI: 10.1160/Th07-08-0523 |
0.356 |
|
| 2008 |
Crawford DC, Nord AS, Badzioch MD, Ranchalis J, McKinstry LA, Ahearn M, Bertucci C, Shephard C, Wong M, Rieder MJ, Schellenberg GD, Nickerson DA, Heagerty PJ, Wijsman EM, Jarvik GP. A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risk. Journal of Lipid Research. 49: 588-96. PMID 18056683 DOI: 10.1194/Jlr.M700409-Jlr200 |
0.398 |
|
| 2007 |
Reiner AP, Carlson CS, Jenny NS, Durda JP, Siscovick DS, Nickerson DA, Tracy RP. USF1 gene variants, cardiovascular risk, and mortality in European Americans: Analysis of two US cohort studies Arteriosclerosis, Thrombosis, and Vascular Biology. 27: 2736-2742. PMID 17885212 DOI: 10.1161/Atvbaha.107.154559 |
0.343 |
|
| 2007 |
Laurie CC, Nickerson DA, Anderson AD, Weir BS, Livingston RJ, Dean MD, Smith KL, Schadt EE, Nachman MW. Linkage disequilibrium in wild mice. Plos Genetics. 3: e144. PMID 17722986 DOI: 10.1371/Journal.Pgen.0030144 |
0.367 |
|
| 2007 |
Cooper GM, Nickerson DA, Eichler EE. Mutational and selective effects on copy-number variants in the human genome. Nature Genetics. 39: S22-9. PMID 17597777 DOI: 10.1038/Ng2054 |
0.425 |
|
| 2007 |
Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, et al. Completing the map of human genetic variation. Nature. 447: 161-5. PMID 17495918 DOI: 10.1038/447161A |
0.442 |
|
| 2007 |
Reiner AP, Carlson CS, Ziv E, Iribarren C, Jaquish CE, Nickerson DA. Genetic ancestry, population sub-structure, and cardiovascular disease-related traits among African-American participants in the CARDIA Study Human Genetics. 121: 565-575. PMID 17356887 DOI: 10.1007/S00439-007-0350-2 |
0.365 |
|
| 2006 |
Bhangale TR, Stephens M, Nickerson DA. Automating resequencing-based detection of insertion-deletion polymorphisms. Nature Genetics. 38: 1457-62. PMID 17115056 DOI: 10.1038/Ng1925 |
0.707 |
|
| 2006 |
Fields S, Nickerson DA, Waterston RH, Ramsey PG. Positioning a medical school for modern biomedical research: The Department of Genome Sciences at the University of Washington School of Medicine Academic Medicine. 81: 882-885. PMID 16985347 DOI: 10.1097/01.Acm.0000238198.25633.E0 |
0.361 |
|
| 2006 |
Eberle MA, Rieder MJ, Kruglyak L, Nickerson DA. Allele frequency matching between SNPs reveals an excess of linkage disequilibrium in genic regions of the human genome. Plos Genetics. 2: e142. PMID 16965180 DOI: 10.1371/Journal.Pgen.0020142 |
0.385 |
|
| 2006 |
Reiner AP, Carty CL, Carlson CS, Wan JY, Rieder MJ, Smith JD, Rice K, Fornage M, Jaquish CE, Williams OD, Tracy RP, Lewis CE, Siscovick DS, Boerwinkle E, Nickerson DA. Association between patterns of nucleotide variation across the three fibrinogen genes and plasma fibrinogen levels: The Coronary Artery Risk Development in Young Adults (CARDIA) study Journal of Thrombosis and Haemostasis. 4: 1279-1287. PMID 16706972 DOI: 10.1111/J.1538-7836.2006.01907.X |
0.389 |
|
| 2006 |
Carlson CS, Smith JD, Stanaway IB, Rieder MJ, Nickerson DA. Direct detection of null alleles in SNP genotyping data Human Molecular Genetics. 15: 1931-1937. PMID 16644863 DOI: 10.1093/Hmg/Ddl115 |
0.378 |
|
| 2006 |
Crawford DC, Yi Q, Smith JD, Shephard C, Wong M, Witrak L, Livingston RJ, Rieder MJ, Nickerson DA. Allelic spectrum of the natural variation in CRP Human Genetics. 119: 496-504. PMID 16550411 DOI: 10.1007/S00439-006-0160-Y |
0.492 |
|
| 2006 |
Newman TL, Rieder MJ, Morrison VA, Sharp AJ, Smith JD, Sprague LJ, Kaul R, Carlson CS, Olson MV, Nickerson DA, Eichler EE. High-throughput genotyping of intermediate-size structural variation. Human Molecular Genetics. 15: 1159-67. PMID 16497726 DOI: 10.1093/Hmg/Ddl031 |
0.422 |
|
| 2006 |
Carlson CS, Heagerty PJ, Hatsukami TS, Richter RJ, Ranchalis J, Lewis J, Bacus TJ, McKinstry LA, Schellenberg GD, Rieder M, Nickerson D, Furlong CE, Chait A, Jarvik GP. TagSNP analyses of the PON gene cluster: effects on PON1 activity, LDL oxidative susceptibility, and vascular disease. Journal of Lipid Research. 47: 1014-24. PMID 16474172 DOI: 10.1194/Jlr.M500517-Jlr200 |
0.378 |
|
| 2006 |
Hindorff LA, Psaty BM, Carlson CS, Heckbert SR, Lumley T, Smith NL, Lemaitre RN, Rieder MJ, Nickerson DA, Reiner AP. Common genetic variation in the prothrombin gene, hormone therapy, and incident nonfatal myocardial infarction in postmenopausal women American Journal of Epidemiology. 163: 600-607. PMID 16467413 DOI: 10.1093/Aje/Kwj092 |
0.358 |
|
| 2006 |
Mackelprang R, Livingston RJ, Eberle MA, Carlson CS, Yi Q, Akey JM, Nickerson DA. Sequence diversity, natural selection and linkage disequilibrium in the human T cell receptor alpha/delta locus. Human Genetics. 119: 255-66. PMID 16425038 DOI: 10.1007/S00439-005-0111-Z |
0.381 |
|
| 2005 |
Crawford DC, Akey DT, Nickerson DA. The patterns of natural variation in human genes. Annual Review of Genomics and Human Genetics. 6: 287-312. PMID 16124863 DOI: 10.1146/Annurev.Genom.6.080604.162309 |
0.441 |
|
| 2005 |
Carlson CS, Aldred SF, Lee PK, Tracy RP, Schwartz SM, Rieder M, Liu K, Williams OD, Iribarren C, Lewis EC, Fornage M, Boerwinkle E, Gross M, Jaquish C, Nickerson DA, et al. Polymorphisms within the C-reactive protein (CRP) promoter region are associated with plasma CRP levels. American Journal of Human Genetics. 77: 64-77. PMID 15897982 DOI: 10.1086/431366 |
0.384 |
|
| 2005 |
Crawford DC, Nickerson DA. Definition and clinical importance of haplotypes. Annual Review of Medicine. 56: 303-20. PMID 15660514 DOI: 10.1146/Annurev.Med.56.082103.104540 |
0.407 |
|
| 2005 |
Bhangale TR, Rieder MJ, Livingston RJ, Nickerson DA. Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes Human Molecular Genetics. 14: 59-69. PMID 15525656 DOI: 10.1093/Hmg/Ddi006 |
0.723 |
|
| 2005 |
Eberle MA, Rieder MJ, Kruglyak L, Nickerson DA. Frequency-Matching SNPs Reveals Extended Linkage Disequilibrium in Genic Regions Plos Genetics. DOI: 10.1371/Journal.Pgen.0020142.Eor |
0.31 |
|
| 2005 |
Gage BF, Eby CS, Johnson JA, Rieder MJ, Ridker PM, Rettie AE, Aquilante C, Milligan PE, Marsh S, Voora D, Langaee T, Veenstra DL, Birman-Deych E, Glynn R, Nickerson DA, et al. Use of Pharmacogenetics and Clinical Factors To Predict the Maintenance Dose of Warfarin. Blood. 106: 550-550. DOI: 10.1182/Blood.V106.11.550.550 |
0.328 |
|
| 2004 |
Livingston RJ, von Niederhausern A, Jegga AG, Crawford DC, Carlson CS, Rieder MJ, Gowrisankar S, Aronow BJ, Weiss RB, Nickerson DA. Pattern of sequence variation across 213 environmental response genes. Genome Research. 14: 1821-31. PMID 15364900 DOI: 10.1101/Gr.2730004 |
0.46 |
|
| 2004 |
Furman I, Rieder MJ, Da Ponte S, Carrington DP, Nickerson DA, Kruglyak L, Markianos K. Sequence-based linkage analysis. American Journal of Human Genetics. 75: 647-53. PMID 15329798 DOI: 10.1086/424888 |
0.397 |
|
| 2004 |
Crawford DC, Bhangale T, Li N, Hellenthal G, Rieder MJ, Nickerson DA, Stephens M. Evidence for substantial fine-scale variation in recombination rates across the human genome. Nature Genetics. 36: 700-6. PMID 15184900 DOI: 10.1038/Ng1376 |
0.674 |
|
| 2004 |
Carlson CS, Eberle MA, Kruglyak L, Nickerson DA. Mapping complex disease loci in whole-genome association studies. Nature. 429: 446-52. PMID 15164069 DOI: 10.1038/Nature02623 |
0.407 |
|
| 2004 |
Fullerton SM, Buchanan AV, Sonpar VA, Taylor SL, Smith JD, Carlson CS, Salomaa V, Stengård JH, Boerwinkle E, Clark AG, Nickerson DA, Weiss KM. The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster. Human Genetics. 115: 36-56. PMID 15108119 DOI: 10.1007/S00439-004-1106-X |
0.427 |
|
| 2004 |
Crawford DC, Carlson CS, Rieder MJ, Carrington DP, Yi Q, Smith JD, Eberle MA, Kruglyak L, Nickerson DA. Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations. American Journal of Human Genetics. 74: 610-22. PMID 15015130 DOI: 10.1086/382227 |
0.322 |
|
| 2004 |
Austin MA, Talmud PJ, Farin FM, Nickerson DA, Edwards KL, Leonetti D, McNeely MJ, Viernes HM, Humphries SE, Fujimoto WY. Association of apolipoprotein A5 variants with LDL particle size and triglyceride in Japanese Americans. Biochimica Et Biophysica Acta. 1688: 1-9. PMID 14732475 DOI: 10.1016/J.Bbadis.2003.10.003 |
0.4 |
|
| 2004 |
Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. American Journal of Human Genetics. 74: 106-20. PMID 14681826 DOI: 10.1086/381000 |
0.3 |
|
| 2004 |
Wu X, Luke A, Rieder M, Lee K, Toth EJ, Nickerson D, Zhu X, Kan D, Cooper RS. An association study of angiotensinogen polymorphisms with serum level and hypertension in an African-American population. Journal of Hypertension. 21: 1847-52. PMID 14508190 DOI: 10.1097/00004872-200310000-00011 |
0.36 |
|
| 2003 |
Jarvik GP, Hatsukami TS, Carlson C, Richter RJ, Jampsa R, Brophy VH, Margolin S, Rieder M, Nickerson D, Schellenberg GD, Heagerty PJ, Furlong CE. Paraoxonase activity, but not haplotype utilizing the linkage disequilibrium structure, predicts vascular disease. Arteriosclerosis, Thrombosis, and Vascular Biology. 23: 1465-71. PMID 12805074 DOI: 10.1161/01.Atv.0000081635.96290.D3 |
0.311 |
|
| 2003 |
Jarvik GP, Jampsa R, Richter RJ, Carlson CS, Rieder MJ, Nickerson DA, Furlong CE. Novel paraoxonase (PON1) nonsense and missense mutations predicted by functional genomic assay of PON1 status Pharmacogenetics. 13: 291-295. PMID 12724622 DOI: 10.1097/00008571-200305000-00009 |
0.321 |
|
| 2003 |
Carlson CS, Eberle MA, Rieder MJ, Smith JD, Kruglyak L, Nickerson DA. Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nature Genetics. 33: 518-21. PMID 12652300 DOI: 10.1038/Ng1128 |
0.39 |
|
| 2003 |
Brumfield RT, Beerli P, Nickerson DA, Edwards SV. The utility of single nucleotide polymorphisms in inferences of population history Trends in Ecology and Evolution. 18: 249-256. DOI: 10.1016/S0169-5347(03)00018-1 |
0.426 |
|
| 2002 |
Mackelprang R, Carlson CS, Subrahmanyan L, Livingston RJ, Eberle MA, Nickerson DA. Sequence variation in the human T-cell receptor loci Immunological Reviews. 190: 26-39. PMID 12493004 DOI: 10.1034/J.1600-065X.2002.19003.X |
0.449 |
|
| 2002 |
Stengård JH, Clark AG, Weiss KM, Kardia S, Nickerson DA, Salomaa V, Ehnholm C, Boerwinkle E, Sing CF. Contributions of 18 additional DNA sequence variations in the gene encoding apolipoprotein E to explaining variation in quantitative measures of lipid metabolism. American Journal of Human Genetics. 71: 501-17. PMID 12165926 DOI: 10.1086/342217 |
0.376 |
|
| 2002 |
Fullerton SM, Clark AG, Weiss KM, Taylor SL, Stengård JH, Salomaa V, Boerwinkle E, Nickerson DA. Sequence polymorphism at the human apolipoprotein AII gene ( APOA2): unexpected deficit of variation in an African-American sample. Human Genetics. 111: 75-87. PMID 12136239 DOI: 10.1007/S00439-002-0763-X |
0.392 |
|
| 2002 |
Edland SD, Tobe VO, Rieder MJ, Bowen JD, McCormick W, Teri L, Schellenberg GD, Larson EB, Nickerson DA, Kukull WA. Mitochondrial genetic variants and Alzheimer disease: a case-control study of the T4336C and G5460A variants. Alzheimer Disease and Associated Disorders. 16: 1-7. PMID 11882743 DOI: 10.1097/00002093-200201000-00001 |
0.364 |
|
| 2002 |
Fullerton SM, Clark AG, Weiss KM, Taylor SL, Stengård JH, Salomaa V, Boerwinkle E, Nickerson DA. Sequence polymorphism at the human apolipoprotein AII gene (APOA2): Unexpected deficit of variation in an African-American sample (Human Genetics (2002) III (75-87)) Human Genetics. 111: 577-578. DOI: 10.1007/S00439-002-0850-Z |
0.401 |
|
| 2001 |
Nickerson DA, Kolker N, Taylor SL, Rieder MJ. Sequence-based detection of single nucleotide polymorphisms. Methods in Molecular Biology (Clifton, N.J.). 175: 29-35. PMID 11462842 DOI: 10.1385/1-59259-235-X:029 |
0.353 |
|
| 2001 |
Subrahmanyan L, Eberle MA, Clark AG, Kruglyak L, Nickerson DA. Sequence variation and linkage disequilibrium in the human T-cell receptor beta (TCRB) locus. American Journal of Human Genetics. 69: 381-95. PMID 11438886 DOI: 10.1086/321297 |
0.401 |
|
| 2001 |
Carlson CS, Newman TL, Nickerson DA. SNPing in the human genome Current Opinion in Chemical Biology. 5: 78-85. PMID 11166653 DOI: 10.1016/S1367-5931(00)00171-X |
0.421 |
|
| 2000 |
Nickerson DA, Taylor SL, Fullerton SM, Weiss KM, Clark AG, Stengård JH, Salomaa V, Boerwinkle E, Sing CF. Sequence diversity and large-scale typing of SNPs in the human apolipoprotein E gene. Genome Research. 10: 1532-45. PMID 11042151 DOI: 10.1101/Gr.146900 |
0.379 |
|
| 2000 |
Zhu X, McKenzie CA, Forrester T, Nickerson DA, Broeckel U, Schunkert H, Doering A, Jacob HJ, Cooper RS, Rieder MJ. Localization of a small genomic region associated with elevated ACE. American Journal of Human Genetics. 67: 1144-53. PMID 11001581 DOI: 10.1016/S0002-9297(07)62945-0 |
0.421 |
|
| 2000 |
Fullerton SM, Clark AG, Weiss KM, Nickerson DA, Taylor SL, Stengârd JH, Salomaa V, Vartiainen E, Perola M, Boerwinkle E, Sing CF. Apolipoprotein E variation at the sequence haplotype level: implications for the origin and maintenance of a major human polymorphism. American Journal of Human Genetics. 67: 881-900. PMID 10986041 DOI: 10.1086/303070 |
0.456 |
|
| 2000 |
Rieder MJ, Nickerson DA. Hypertension and single nucleotide polymorphisms. Current Hypertension Reports. 2: 44-9. PMID 10981126 DOI: 10.1007/S11906-000-0057-4 |
0.432 |
|
| 2000 |
Templeton AR, Clark AG, Weiss KM, Nickerson DA, Boerwinkle E, Sing CF. Recombinational and mutational hotspots within the human lipoprotein lipase gene. American Journal of Human Genetics. 66: 69-83. PMID 10631137 DOI: 10.1086/302699 |
0.418 |
|
| 2000 |
Garg K, Green P, Nickerson DA. Identification of candidate coding region single nucleotide polymorphisms in 165 human genes using assembled expressed sequence tags. Genome Research. 9: 1087-92. PMID 10568748 DOI: 10.1101/Gr.9.11.1087 |
0.394 |
|
| 1999 |
Rieder MJ, Taylor SL, Clark AG, Nickerson DA. Sequence variation in the human angiotensin converting enzyme. Nature Genetics. 22: 59-62. PMID 10319862 DOI: 10.1038/8760 |
0.448 |
|
| 1999 |
Picoult-Newberg L, Ideker TE, Pohl MG, Taylor SL, Donaldson MA, Nickerson DA, Boyce-Jacino M. Mining SNPs from EST databases. Genome Research. 9: 167-174. DOI: 10.1101/Gr.9.2.167 |
0.409 |
|
| 1998 |
Clark AG, Weiss KM, Nickerson DA, Taylor SL, Buchanan A, Stengård J, Salomaa V, Vartiainen E, Perola M, Boerwinkle E, Sing CF. Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. American Journal of Human Genetics. 63: 595-612. PMID 9683608 DOI: 10.1086/301977 |
0.438 |
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| 1998 |
Nickerson DA, Taylor SL, Weiss KM, Clark AG, Hutchinson RG, Stengård J, Salomaa V, Vartiainen E, Boerwinkle E, Sing CF. DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nature Genetics. 19: 233-40. PMID 9662394 DOI: 10.1038/907 |
0.401 |
|
| 1998 |
Edelstein RE, Nickerson DA, Tobe VO, Manns-Arcuino LA, Frenkel LM. Oligonucleotide ligation assay for detecting mutations in the human immunodeficiency virus type 1 pol gene that are associated with resistance to zidovudine, didanosine, and lamivudine. Journal of Clinical Microbiology. 36: 569-72. PMID 9466779 DOI: 10.1128/Jcm.36.2.569-572.1998 |
0.349 |
|
| 1998 |
Rieder MJ, Taylor SL, Tobe VO, Nickerson DA. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome. Nucleic Acids Research. 26: 967-73. PMID 9461455 DOI: 10.1093/Nar/26.4.967 |
0.369 |
|
| 1996 |
Tobe VO, Taylor SL, Nickerson DA. Single-well genotyping of diallelic sequence variations by a two-color ELISA-based oligonucleotide ligation assay. Nucleic Acids Research. 24: 3728-32. PMID 8871551 DOI: 10.1093/Nar/24.19.3728 |
0.411 |
|
| 1996 |
Kwok PY, Deng Q, Zakeri H, Taylor SL, Nickerson DA. Increasing the information content of STS-based genome maps: identifying polymorphisms in mapped STSs. Genomics. 31: 123-6. PMID 8808290 DOI: 10.1006/Geno.1996.0019 |
0.363 |
|
| 1996 |
Boysen C, Carlson C, Hood E, Hood L, Nickerson DA. Identifying DNA polymorphisms in human TCRA/D variable genes by direct sequencing of PCR products. Immunogenetics. 44: 121-7. PMID 8662074 DOI: 10.1007/Bf02660060 |
0.386 |
|
| 1995 |
Kwok PY, Carlson C, Yager TD, Ankener W, Nickerson DA. Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products. Genomics. 23: 138-44. PMID 7829062 DOI: 10.1006/Geno.1994.1469 |
0.385 |
|
| 1995 |
Delahunty CM, Ankener W, Brainerd S, Nickerson DA, Mononen IT. Finnish-type aspartylglucosaminuria detected by oligonucleotide ligation assay Clinical Chemistry. 41: 59-61. DOI: 10.1093/Clinchem/41.1.59 |
0.332 |
|
| 1994 |
Charmley P, Nickerson D, Hood L. Polymorphism detection and sequence analysis of human T-cell receptor V alpha-chain-encoding gene segments. Immunogenetics. 39: 138-45. PMID 8276457 DOI: 10.1007/Bf00188617 |
0.396 |
|
| 1993 |
Nickerson DA. Gene probe assays and their detection. Current Opinion in Biotechnology. 4: 48-51. PMID 7763393 DOI: 10.1016/0958-1669(93)90031-Q |
0.398 |
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