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Items: 1 to 20 of 353

1.

Interrogation of CYP2D6 structural variant alleles improves the correlation between CYP2D6 genotype and CYP2D6-mediated metabolic activity.

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, Gaedigk A, Thummel KE, Woodahl EL.

Clin Transl Sci. 2019 Sep 19. doi: 10.1111/cts.12695. [Epub ahead of print]

PMID:
31536170
2.

Mendelian Gene Discovery: Fast and Furious with No End in Sight.

Bamshad MJ, Nickerson DA, Chong JX.

Am J Hum Genet. 2019 Sep 5;105(3):448-455. doi: 10.1016/j.ajhg.2019.07.011.

PMID:
31491408
3.

The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy.

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, Smith ER, Tournier-Lasserve E, Milewicz DM.

Genet Med. 2019 Sep 2. doi: 10.1038/s41436-019-0639-2. [Epub ahead of print]

PMID:
31474762
4.

Redefining the Etiologic Landscape of Cerebellar Malformations.

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, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB.

Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29.

PMID:
31474318
5.

Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study.

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, Fullerton SM, Burke W, Regier DA, Dorschner MO, Shirts BH, Robertson PD, Nickerson DA, Patrick DL, Jarvik GP, Veenstra DL.

Contemp Clin Trials. 2019 Sep;84:105820. doi: 10.1016/j.cct.2019.105820. Epub 2019 Aug 7.

PMID:
31400517
6.

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data.

Jenkins MM, Almli LM, Pangilinan F, Chong JX, Blue EE, Shapira SK, White J, McGoldrick D, Smith JD, Mullikin JC, Bean CJ, Nembhard WN, Lou XY, Shaw GM, Romitti PA, Keppler-Noreuil K, Yazdy MM, Kay DM, Carter TC, Olshan AF, Moore KJ, Nascone-Yoder N, Finnell RH, Lupo PJ, Feldkamp ML; NISC Comparative Sequencing Program; University of Washington Center for Mendelian Genomics, Nickerson DA, Bamshad MJ, Brody LC, Reefhuis J; National Birth Defects Prevention Study.

Birth Defects Res. 2019 Jul 21. doi: 10.1002/bdr2.1554. [Epub ahead of print]

PMID:
31328417
7.

Correction to: Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.

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, Campbell PT, Carlson CS, Chan AT, Chang-Claude J, Chen S, Connolly CM, Easton DF, Feskens EJM, Gallinger S, Giles GG, Gunter MJ, Hampe J, Huyghe JR, Hoffmeister M, Hudson TJ, Jacobs EJ, Jenkins MA, Kampman E, Kang HM, Kühn T, Küry S, Lejbkowicz F, Le Marchand L, Milne RL, Li L, Li CI, Lindblom A, Lindor NM, Martín V, McNeil CE, Melas M, Moreno V, Newcomb PA, Offit K, Pharaoh PDP, Potter JD, Qu C, Riboli E, Rennert G, Sala N, Schafmayer C, Scacheri PC, Schmit SL, Severi G, Slattery ML, Smith JD, Trichopoulou A, Tumino R, Ulrich CM, van Duijnhoven FJB, Van Guelpen B, Weinstein SJ, White E, Wolk A, Woods MO, Wu AH, Abeçasis GR, Casey G, Nickerson DA, Gruber SB, Hsu L, Zheng W, Peters U.

Hum Genet. 2019 Jul;138(7):789-791. doi: 10.1007/s00439-019-02030-8.

PMID:
31254090
8.

Pharmacogenomics of nicotine metabolism: novel CYP2A6 and CYP2B6 genetic variation patterns in Alaska Native and American Indian populations.

Claw KG, Beans JA, Lee SB, Avey JP, Stapleton PA, Scherer SE, El-Boraie A, Tyndale RF, Nickerson DA, Dillard DA, Thummel KE, Robinson RF.

Nicotine Tob Res. 2019 Jun 25. pii: ntz105. doi: 10.1093/ntr/ntz105. [Epub ahead of print]

PMID:
31241144
9.

Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.

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, Smith JD, Kirk EP, Venselaar H, Krahn KN, van Bokhoven H, Zhou H, Cornell RA, Glass IA, Bamshad MJ, Nickerson DA, Murray JC, Lachke SA, Thompson TB, Buckley MF, Roscioli T.

Hum Mutat. 2019 Jun 18. doi: 10.1002/humu.23793. [Epub ahead of print]

PMID:
31215115
10.

Calling Star Alleles With Stargazer in 28 Pharmacogenes With Whole Genome Sequences.

Lee SB, Wheeler MM, Thummel KE, Nickerson DA.

Clin Pharmacol Ther. 2019 Jun 17. doi: 10.1002/cpt.1552. [Epub ahead of print]

PMID:
31206625
11.

Resequencing Study Confirms That Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis.

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, Brown KK, Loyd JE, Crapo JD, Silverman EK, Cho MH, James JA, Guthridge JM, Cogan JD, Kropski JA, Swigris JJ, Bair C, Kim DS, Ji W, Kim H, Song JW, Maier LA, Pacheco KA, Hirani N, Poon AS, Li F, Jenkins RG, Braybrooke R, Saini G, Maher TM, Molyneaux PL, Saunders P, Zhang Y, Gibson KF, Kass DJ, Rojas M, Sembrat J, Wolters PJ, Collard HR, Sundy JS, O'Riordan T, Strek ME, Noth I, Ma SF, Porteous MK, Kreider ME, Patel NB, Inoue Y, Hirose M, Arai T, Akagawa S, Eickelberg O, Fernandez IE, Behr J, Mogulkoc N, Corte TJ, Glaspole I, Tomassetti S, Ravaglia C, Poletti V, Crestani B, Borie R, Kannengiesser C, Parfrey H, Fiddler C, Rassl D, Molina-Molina M, Machahua C, Worboys AM, Gudmundsson G, Isaksson HJ, Lederer DJ, Podolanczuk AJ, Montesi SB, Bendstrup E, Danchel V, Selman M, Pardo A, Henry MT, Keane MP, Doran P, Vašáková M, Sterclova M, Ryerson CJ, Wilcox PG, Okamoto T, Furusawa H, Miyazaki Y, Laurent G, Baltic S, Prele C, Moodley Y, Shea BS, Ohta K, Suzukawa M, Narumoto O, Nathan SD, Venuto DC, Woldehanna ML, Kokturk N, de Andrade JA, Luckhardt T, Kulkarni T, Bonella F, Donnelly SC, McElroy A, Armstong ME, Aranda A, Carbone RG, Puppo F, Beckman KB, Nickerson DA, Fingerlin TE, Schwartz DA.

Am J Respir Crit Care Med. 2019 Jul 15;200(2):199-208. doi: 10.1164/rccm.201810-1891OC.

12.

A2ML1 and otitis media: novel variants, differential expression, and relevant pathways.

Larson ED, Magno JPM, Steritz MJ, Llanes EGDV, Cardwell J, Pedro M, Roberts TB, Einarsdottir E, Rosanes RAQ, Greenlee C, Santos RAP, Yousaf A, Streubel SO, Santos ATR, Ruiz AG, Lagrana-Villagracia SM, Ray D, Yarza TKL, Scholes MA, Anderson CB, Acharya A; University of Washington Center for Mendelian Genomics, Gubbels SP, Bamshad MJ, Cass SP, Lee NR, Shaikh RS, Nickerson DA, Mohlke KL, Prager JD, Cruz TLG, Yoon PJ, Abes GT, Schwartz DA, Chan AL, Wine TM, Cutiongco-de la Paz EM, Friedman N, Kechris K, Kere J, Leal SM, Yang IV, Patel JA, Tantoco MLC, Riazuddin S, Chan KH, Mattila PS, Reyes-Quintos MRT, Ahmed ZM, Jenkins HA, Chonmaitree T, Hafrén L, Chiong CM, Santos-Cortez RLP.

Hum Mutat. 2019 Aug;40(8):1156-1171. doi: 10.1002/humu.23769. Epub 2019 May 21.

PMID:
31009165
13.

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.

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, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM.

Hum Genet. 2019 Jun;138(6):593-600. doi: 10.1007/s00439-019-02000-0. Epub 2019 Apr 13.

PMID:
30982135
14.

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation.

Ng BG, Lourenço CM, Losfeld ME, Buckingham KJ, Kircher M, Nickerson DA, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics, Freeze HH.

J Inherit Metab Dis. 2019 Sep;42(5):993-997. doi: 10.1002/jimd.12091. Epub 2019 Apr 16.

PMID:
30945312
15.

Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer.

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, Campbell PT, Carlson CS, Chan AT, Chang-Claude J, Chen S, Connolly CM, Easton DF, Feskens EJM, Gallinger S, Giles GG, Gunter MJ, Hampe J, Huyghe JR, Hoffmeister M, Hudson TJ, Jacobs EJ, Jenkins MA, Kampman E, Kang HM, Kühn T, Küry S, Lejbkowicz F, Le Marchand L, Milne RL, Li L, Li CI, Lindblom A, Lindor NM, Martín V, McNeil CE, Melas M, Moreno V, Newcomb PA, Offit K, Pharaoh PDP, Potter JD, Qu C, Riboli E, Rennert G, Sala N, Schafmayer C, Scacheri PC, Schmit SL, Severi G, Slattery ML, Smith JD, Trichopoulou A, Tumino R, Ulrich CM, van Duijnhoven FJB, Van Guelpen B, Weinstein SJ, White E, Wolk A, Woods MO, Wu AH, Abecasis GR, Casey G, Nickerson DA, Gruber SB, Hsu L, Zheng W, Peters U.

Hum Genet. 2019 Apr;138(4):307-326. doi: 10.1007/s00439-019-01989-8. Epub 2019 Feb 28. Erratum in: Hum Genet. 2019 Jun 28;:.

16.

SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections.

Duan XY, Guo DC, Regalado ES, Shen H; University of Washington Center for Mendelian Genomics, Coselli JS, Estrera AL, Safi HJ, Bamshad MJ, Nickerson DA, LeMaire SA, De Backer J, Milewicz DM.

Eur J Hum Genet. 2019 Jul;27(7):1054-1060. doi: 10.1038/s41431-019-0357-x. Epub 2019 Feb 26.

PMID:
30809044
17.

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

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, Smith JD, Loddo I, Finelli P, Seri M, Pippucci T, Larizza L, Gervasini C.

Hum Genet. 2019 Mar;138(3):257-269. doi: 10.1007/s00439-019-01985-y. Epub 2019 Feb 26.

18.

Insights into genetics, human biology and disease gleaned from family based genomic studies.

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, Avramopoulos D, White JJ, Doheny KF, Witmer PD, Boehm C, Sutton VR, Muzny DM, Boerwinkle E, Günel M, Nickerson DA, Mane S, MacArthur DG, Gibbs RA, Hamosh A, Lifton RP, Matise TC, Rehm HL, Gerstein M, Bamshad MJ, Valle D, Lupski JR; Centers for Mendelian Genomics.

Genet Med. 2019 Apr;21(4):798-812. doi: 10.1038/s41436-018-0408-7. Epub 2019 Jan 18. Review.

PMID:
30655598
19.

Correction: A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration.

Sivakumaran TA, Igo RP Jr, 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, Stambolian DE, Edwards AO, Lee KE, Leontiev DV, Jun G, Wang Y, Tian L, Qiu F, Henning AK, LaFramboise T, Sen P, Aarthi M, George R, Raman R, Das MK, Vijaya L, Kumaramanickavel G, Wong TY, Swaroop A, Abecasis GR, Klein R, Klein BEK, Nickerson DA, Eichler EE, Iyengar SK.

PLoS One. 2018 Dec 20;13(12):e0209943. doi: 10.1371/journal.pone.0209943. eCollection 2018.

20.

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.

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, Doherty D, Dempsey JC, Miller DG, Kircher M, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Mefford HC, Sol-Church K.

Am J Hum Genet. 2019 Jan 3;104(1):35-44. doi: 10.1016/j.ajhg.2018.11.005. Epub 2018 Dec 13.

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