Deborah A. Nickerson - Publications

Affiliations: 
University of Washington, Seattle, Seattle, WA 
Area:
Biomedical Engineering, Molecular Biology

95 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
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  0.32
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  0.32
2016 Postmus I, Warren HR, Trompet S, Arsenault BJ, Avery CL, Bis JC, Chasman DI, de Keyser CE, Deshmukh HA, Evans DS, Feng Q, Li X, Smit RA, Smith AV, Sun F, ... ... Nickerson DA, et al. Meta-analysis of genome-wide association studies of HDL cholesterol response to statins. Journal of Medical Genetics. PMID 27587472 DOI: 10.1136/jmedgenet-2016-103966  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
2015 Ullah R, Ansar M, Durrani ZU, Lee K, Santos-Cortez RL, Muhammad D, Ali M, Zia M, Ayub M, Khan S, Smith JD, Nickerson DA, Shendure J, Bamshad M, Leal SM, et al. Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis. International Journal of Dermatology. PMID 26578203 DOI: 10.1111/ijd.12950  0.32
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  0.32
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  0.32
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  0.32
2015 Ansar M, Raza SI, Lee K, Irfanullah, Shahi S, Acharya A, Dai H, Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Santos-Cortez RL, Ahmad W, Leal SM. A homozygous missense variant in type I keratin KRT25 causes autosomal recessive woolly hair. Journal of Medical Genetics. PMID 26160856 DOI: 10.1136/jmedgenet-2015-103255  0.32
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  0.32
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  0.32
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  0.32
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  0.32
2015 Shim H, Chasman DI, Smith JD, Mora S, Ridker PM, Nickerson DA, Krauss RM, Stephens M. A multivariate genome-wide association analysis of 10 LDL subfractions, and their response to statin treatment, in 1868 Caucasians. Plos One. 10: e0120758. PMID 25898129 DOI: 10.1371/journal.pone.0120758  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
2014 Stitziel NO, Won HH, Morrison AC, Peloso GM, Do R, Lange LA, Fontanillas P, Gupta N, Duga S, Goel A, Farrall M, Saleheen D, Ferrario P, König I, ... ... Nickerson DA, et al. Inactivating mutations in NPC1L1 and protection from coronary heart disease. The New England Journal of Medicine. 371: 2072-82. PMID 25390462 DOI: 10.1056/NEJMoa1405386  0.32
2014 Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 515: 216-21. PMID 25363768 DOI: 10.1038/nature13908  0.32
2014 Postmus I, Trompet S, Deshmukh HA, Barnes MR, Li X, Warren HR, Chasman DI, Zhou K, Arsenault BJ, Donnelly LA, Wiggins KL, Avery CL, Griffin P, Feng Q, Taylor KD, ... ... Nickerson DA, et al. Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins. Nature Communications. 5: 5068. PMID 25350695 DOI: 10.1038/ncomms6068  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
2014 Li B, Krakow D, Nickerson DA, Bamshad MJ, Chang Y, Lachman RS, Yilmaz A, Kayserili H, Cohn DH. Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1. American Journal of Medical Genetics. Part A. 164: 2407-11. PMID 24953221 DOI: 10.1002/ajmg.a.36640  0.32
2014 Kim DS, Kim JH, Burt AA, Crosslin DR, Burnham N, McDonald-McGinn DM, Zackai EH, Nicolson SC, Spray TL, Stanaway IB, Nickerson DA, Russell MW, Hakonarson H, Gaynor JW, Jarvik GP. Patient genotypes impact survival after surgery for isolated congenital heart disease. The Annals of Thoracic Surgery. 98: 104-10; discussion 1. PMID 24811984 DOI: 10.1016/j.athoracsur.2014.03.017  0.32
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  0.32
2014 McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, ... ... Nickerson DA, et al. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. American Journal of Human Genetics. 94: 734-44. PMID 24726473 DOI: 10.1016/j.ajhg.2014.03.015  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
2012 O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, ... ... Nickerson DA, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (New York, N.Y.). 338: 1619-22. PMID 23160955 DOI: 10.1126/science.1227764  0.32
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  0.32
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  0.32
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  0.32
2012 Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, ... ... Nickerson DA, et al. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nature Genetics. 44: 916-21. PMID 22772371 DOI: 10.1038/ng.2348  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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.2012.05.013  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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  0.32
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