| Year |
Citation |
Score |
| 2021 |
Olson NC, Raffield LM, Moxley AH, Miller-Fleming TW, Auer PL, Franceschini N, Ngo D, Thornton TA, Lange EM, Li Y, Nickerson DA, Zakai NA, Gerszten RE, Cox NJ, Correa A, et al. Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Blacks. Circulation. Genomic and Precision Medicine. CIRCGEN121003421. PMID 34706549 DOI: 10.1161/CIRCGEN.121.003421 |
0.361 |
|
| 2021 |
Karas S, Etheridge AS, Nickerson DA, Cox NJ, Mohlke KL, Cecchin E, Toffoli G, Mathijssen RHJ, Forrest A, Bies RR, Innocenti F. Integration of DNA sequencing with population pharmacokinetics to improve the prediction of irinotecan exposure in cancer patients. British Journal of Cancer. PMID 34703007 DOI: 10.1038/s41416-021-01589-2 |
0.337 |
|
| 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 |
0.474 |
|
| 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 |
0.301 |
|
| 2021 |
Bharadwaj T, Schrauwen I, Rehman S, Liaqat K, Acharya A, Giese APJ, Nouel-Saied LM, Nasir A, Everard JL, Pollock LM, Zhu S, Bamshad MJ, Nickerson DA, Ali RH, Ullah A, et al. ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment. European Journal of Human Genetics : Ejhg. PMID 34135477 DOI: 10.1038/s41431-021-00913-x |
0.304 |
|
| 2021 |
Hu Y, Stilp AM, McHugh CP, Rao S, Jai D, Zheng X, Lane J, Méric de Bellefon S, Raffield LM, Chen MH, Yanek LR, Wheeler M, Yao Y, Ren C, Broome J, ... ... Nickerson D, et al. Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program. American Journal of Human Genetics. PMID 33887194 DOI: 10.1016/j.ajhg.2021.04.003 |
0.328 |
|
| 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 |
0.321 |
|
| 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 |
0.305 |
|
| 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 |
0.323 |
|
| 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 |
0.302 |
|
| 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 |
0.323 |
|
| 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 |
0.322 |
|
| 2019 |
Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, ... ... Nickerson DA, et al. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Human Genetics. PMID 30982135 DOI: 10.1007/S00439-019-02000-0 |
0.308 |
|
| 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 |
0.338 |
|
| 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 |
0.422 |
|
| 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 |
0.317 |
|
| 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 |
0.346 |
|
| 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 |
0.461 |
|
| 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 |
0.393 |
|
| 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 |
0.353 |
|
| 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 |
0.308 |
|
| 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 |
0.34 |
|
| 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 |
0.336 |
|
| 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 |
0.313 |
|
| 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 |
0.398 |
|
| 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 |
0.305 |
|
| 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 |
|
| 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 |
0.4 |
|
| 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 |
0.337 |
|
| 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 |
0.339 |
|
| 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 |
0.333 |
|
| 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 |
0.305 |
|
| 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 |
0.346 |
|
| 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 |
0.315 |
|
| 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 |
0.397 |
|
| 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 |
0.318 |
|
| 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 |
0.356 |
|
| 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 |
0.35 |
|
| 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 |
0.378 |
|
| 2016 |
Staples J, Witherspoon DJ, Jorde LB, Nickerson DA, Below JE, Huff CD. PADRE: Pedigree-Aware Distant-Relationship Estimation. American Journal of Human Genetics. PMID 27374771 DOI: 10.1016/J.Ajhg.2016.05.020 |
0.54 |
|
| 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 |
0.301 |
|
| 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 |
0.306 |
|
| 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 |
0.618 |
|
| 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 |
0.431 |
|
| 2016 |
Chhibber A, French CE, Yee SW, Gamazon ER, Theusch E, Qin X, Webb A, Papp AC, Wang A, Simmons CQ, Konkashbaev A, Chaudhry AS, Mitchel K, Stryke D, Ferrin TE, ... ... Nickerson DA, et al. Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines. The Pharmacogenomics Journal. PMID 26856248 DOI: 10.1038/Tpj.2015.93 |
0.377 |
|
| 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 |
0.347 |
|
| 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 |
0.343 |
|
| 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 |
0.353 |
|
| 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 |
0.551 |
|
| 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 |
0.335 |
|
| 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 |
0.342 |
|
| 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 |
0.57 |
|
| 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 |
0.307 |
|
| 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 |
0.612 |
|
| 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 |
0.314 |
|
| 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 |
0.321 |
|
| 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 |
0.315 |
|
| 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 |
0.379 |
|
| 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 |
0.306 |
|
| 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 |
0.3 |
|
| 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 |
0.369 |
|
| 2013 |
Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, ... ... Nickerson DA, et al. Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. American Journal of Human Genetics. 92: 137-43. PMID 23273567 DOI: 10.1016/J.Ajhg.2012.11.011 |
0.566 |
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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 |
0.311 |
|
| 2013 |
McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, ... ... Nickerson DA, et al. Mutations in ECEL1 cause distal arthrogryposis type 5D. American Journal of Human Genetics. 92: 150-6. PMID 23261301 DOI: 10.1016/J.Ajhg.2012.11.014 |
0.574 |
|
| 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 |
0.302 |
|
| 2013 |
Staples J, Nickerson DA, Below JE. Utilizing graph theory to select the largest set of unrelated individuals for genetic analysis. Genetic Epidemiology. 37: 136-41. PMID 22996348 DOI: 10.1002/gepi.21684 |
0.534 |
|
| 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 |
0.609 |
|
| 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 |
0.429 |
|
| 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 |
0.336 |
|
| 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 |
0.371 |
|
| 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 |
0.301 |
|
| 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 |
0.306 |
|
| 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 |
0.326 |
|
| 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 |
0.454 |
|
| 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 |
0.321 |
|
| 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 |
0.349 |
|
| 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 |
0.31 |
|
| 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 |
0.34 |
|
| 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 |
0.337 |
|
| 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 |
0.338 |
|
| 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 |
0.326 |
|
| 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 |
0.309 |
|
| 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 |
0.301 |
|
| 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 |
0.573 |
|
| 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 |
0.311 |
|
| 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 |
0.345 |
|
| 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 |
0.345 |
|
| 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 |
0.306 |
|
| 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 |
0.333 |
|
| 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 |
0.304 |
|
| 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 |
0.36 |
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