Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 44

1.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, Sajan SA, Tang S, Bonneau D, Beck A, White J, Mahida S, Harris J, Smith-Hicks C, Hoyer J, Zweier C, Reis A, Thiel CT, Jamra RA, Zeid N, Yang A, Farach LS, Walsh L, Payne K, Rohena L, Velinov M, Ziegler A, Schaefer E, Gatinois V, Geneviève D, Simon MEH, Kohler J, Rotenberg J, Wheeler P, Larson A, Ernst ME, Akman CI, Westman R, Blanchet P, Schillaci LA, Vincent-Delorme C, Gripp KW, Mattioli F, Guyader GL, Gerard B, Mathieu-Dramard M, Morin G, Sasanfar R, Ayub M, Vasli N, Yang S, Person R, Monaghan KG, Nickerson DA, van Binsbergen E, Enns GM, Dries AM, Rowe LJ, Tsai ACH, Svihovec S, Friedman J, Agha Z, Qamar R, Rodan LH, Martinez-Agosto J, Ockeloen CW, Vincent M, Sunderland WJ, Bernstein JA; Undiagnosed Diseases Network,, Eichler EE, Vincent JB; University of Washington Center for Mendelian Genomics (UW-CMG),, Bamshad MJ.

Genet Med. 2019 Nov 14. doi: 10.1038/s41436-019-0693-9. [Epub ahead of print]

PMID:
31723249
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.

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
4.

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 Oct;40(10):1813-1825. doi: 10.1002/humu.23793. Epub 2019 Jun 18.

PMID:
31215115
5.

Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.

Mackelprang RD, Bamshad MJ, Chong JX, Hou X, Buckingham KJ, Shively K, deBruyn G, Mugo NR, Mullins JI, McElrath MJ, Baeten JM, Celum C, Emond MJ, Lingappa JR; Partners in Prevention HSV/HIV Transmission Study and the Partners PrEP Study Teams.

PLoS Pathog. 2019 Feb 11;15(2):e1007588. doi: 10.1371/journal.ppat.1007588. eCollection 2019 Feb.

6.

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
7.

Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.

Helle E, Córdova-Palomera A, Ojala T, Saha P, Potiny P, Gustafsson S, Ingelsson E, Bamshad M, Nickerson D, Chong JX; University of Washington Center for Mendelian Genomics, Ashley E, Priest JR.

Genet Epidemiol. 2019 Mar;43(2):215-226. doi: 10.1002/gepi.22176. Epub 2018 Dec 4.

PMID:
30511478
8.

Internationalisation of Gold Standards Framework use in Primary Health Care.

Teo SP, Chong JX, Venkatasalu MR.

Age Ageing. 2018 Sep 1;47(5):762. doi: 10.1093/ageing/afy100. No abstract available.

PMID:
30007312
9.

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.

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, Dorschner MO, Bedell B, Kirk E, Hing AV, Venselaar H, Valencia-Ramirez LC, Bamshad MJ, Glass IA, Cooper JA, Haan E, Nickerson DA, van Bokhoven H, Zhou H, Krahn KN, Buckley MF, Murray JC, Lidral AC, Roscioli T.

Am J Hum Genet. 2018 Jun 7;102(6):1143-1157. doi: 10.1016/j.ajhg.2018.04.009. Epub 2018 May 24.

10.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

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, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX; University of Washington Center for Mendelian Genomics, Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM.

Am J Hum Genet. 2018 Feb 1;102(2):309-320. doi: 10.1016/j.ajhg.2017.12.015. Epub 2018 Jan 25.

11.

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.

Maselli RA, Arredondo J, Vázquez J, Chong JX, Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM.

Ann N Y Acad Sci. 2018 Feb;1413(1):119-125. doi: 10.1111/nyas.13585. Epub 2018 Jan 28. Review.

12.

Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.

Blue E, Louie TL, Chong JX, Hebbring SJ, Barnes KC, Rafaels NM, Knowles MR, Gibson RL, Bamshad MJ, Emond MJ; U.S. National Heart, Lung, and Blood Institute “Grand Opportunity” Exome Sequencing Project (LungGO).

Ann Am Thorac Soc. 2018 Apr;15(4):440-448. doi: 10.1513/AnnalsATS.201706-451OC.

13.

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.

Moccia A, Srivastava A, Skidmore JM, Bernat JA, Wheeler M, Chong JX, Nickerson D, Bamshad M, Hefner MA, Martin DM, Bielas SL.

Genet Med. 2018 Sep;20(9):1022-1029. doi: 10.1038/gim.2017.233. Epub 2018 Jan 4.

14.

Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.

Mackelprang RD, Bamshad MJ, Chong JX, Hou X, Buckingham KJ, Shively K, deBruyn G, Mugo NR, Mullins JI, McElrath MJ, Baeten JM, Celum C, Emond MJ, Lingappa JR; Partners in Prevention HSV/HIV Transmission Study and the Partners PrEP Study Teams.

PLoS Pathog. 2017 Nov 6;13(11):e1006703. doi: 10.1371/journal.ppat.1006703. eCollection 2017 Nov. Erratum in: PLoS Pathog. 2019 Feb 11;15(2):e1007588.

15.

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.

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; University of Washington Center for Mendelian Genomics, Niedernhofer LJ, Oshima J.

Hum Mutat. 2018 Feb;39(2):255-265. doi: 10.1002/humu.23367. Epub 2017 Nov 17.

16.

Matchmaker Exchange.

Sobreira NLM, Arachchi H, Buske OJ, Chong JX, Hutton B, Foreman J, Schiettecatte F, Groza T, Jacobsen JOB, Haendel MA, Boycott KM, Hamosh A, Rehm HL; Matchmaker Exchange Consortium.

Curr Protoc Hum Genet. 2017 Oct 18;95:9.31.1-9.31.15. doi: 10.1002/cphg.50.

17.

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

Said E, Chong JX, Hempel M, Denecke J, Soler P, Strom T, Nickerson DA, Kubisch C; University of Washington Center for Mendelian Genomics, Bamshad MJ, Lessel D.

Am J Med Genet A. 2017 Nov;173(11):3098-3103. doi: 10.1002/ajmg.a.38406. Epub 2017 Sep 8.

18.

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.

Maselli RA, Arredondo J, Vázquez J, Chong JX; University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Lara M, Ng F, Lo VL, Pytel P, McDonald CM.

Am J Med Genet A. 2017 Aug;173(8):2240-2245. doi: 10.1002/ajmg.a.38291. Epub 2017 May 25.

19.

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H.

Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003.

20.

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis.

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.

Sci Rep. 2017 Feb 16;7:41803. doi: 10.1038/srep41803.

21.

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.

Srichomkwun P, Takamatsu J, Nickerson DA, Bamshad MJ, Chong JX, Refetoff S.

Thyroid. 2017 Jan;27(1):129-131. doi: 10.1089/thy.2016.0469. Epub 2016 Dec 7.

22.

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

Chong JX, Caputo V, Phelps IG, Stella L, Worgan L, Dempsey JC, Nguyen A, Leuzzi V, Webster R, Pizzuti A, Marvin CT, Ishak GE, Ardern-Holmes S, Richmond Z; University of Washington Center for Mendelian Genomics, Bamshad MJ, Ortiz-Gonzalez XR, Tartaglia M, Chopra M, Doherty D.

Am J Hum Genet. 2016 Apr 7;98(4):772-81. doi: 10.1016/j.ajhg.2016.01.016. Epub 2016 Mar 31.

23.

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.

Chong JX, Yu JH, Lorentzen P, Park KM, Jamal SM, Tabor HK, Rauch A, Saenz MS, Boltshauser E, Patterson KE, Nickerson DA, Bamshad MJ.

Genet Med. 2016 Aug;18(8):788-95. doi: 10.1038/gim.2015.161. Epub 2015 Dec 10.

24.

Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.

Emond MJ, Louie T, Emerson J, Chong JX, Mathias RA, Knowles MR, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; NHLBI GO Exome Sequencing Project, Go L, Gibson RL, Bamshad MJ.

PLoS Genet. 2015 Aug 18;11(8):e1005424. doi: 10.1371/journal.pgen.1005424. eCollection 2015 Aug. No abstract available.

25.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.

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, Hoover-Fong J, Mathews D, Witmer PD, Ling H, Hetrick K, Watkins L, Patterson KE, Reinier F, Blue E, Muzny D, Kircher M, Bilguvar K, López-Giráldez F, Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA; Centers for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2015 Aug 6;97(2):199-215. doi: 10.1016/j.ajhg.2015.06.009. Epub 2015 Jul 9. Review.

26.

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis.

Emond MJ, Louie T, Emerson J, Chong JX, Mathias RA, Knowles MR, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; NHLBI GO Exome Sequencing Project, Go L, Gibson RL, Bamshad MJ.

PLoS Genet. 2015 Jun 5;11(6):e1005273. doi: 10.1371/journal.pgen.1005273. eCollection 2015 Jun. Erratum in: PLoS Genet. 2015 Aug;11(8):e1005424.

27.

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

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, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004.

28.

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.

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, Kaplan P, Kline AD, Mercer CL, Nowaczyk MJ, Klein Wassink-Ruiter JS, McPherson EW, Moreno RA, Scheuerle AE, Shashi V, Stevens CA, Carey JC, Monteil A, Lory P, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2015 Mar 5;96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. Epub 2015 Feb 12.

29.

Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma.

Campbell CD, Mohajeri K, Malig M, Hormozdiari F, Nelson B, Du G, Patterson KM, Eng C, Torgerson DG, Hu D, Herman C, Chong JX, Ko A, O'Roak BJ, Krumm N, Vives L, Lee C, Roth LA, Rodriguez-Cintron W, Rodriguez-Santana J, Brigino-Buenaventura E, Davis A, Meade K, LeNoir MA, Thyne S, Jackson DJ, Gern JE, Lemanske RF Jr, Shendure J, Abney M, Burchard EG, Ober C, Eichler EE.

PLoS One. 2014 Aug 12;9(8):e104396. doi: 10.1371/journal.pone.0104396. eCollection 2014.

30.

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA; NHLBI Exome Sequencing Project, Bamshad MJ.

Am J Hum Genet. 2014 Aug 7;95(2):183-93. doi: 10.1016/j.ajhg.2014.07.006. Epub 2014 Jul 31.

31.

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.

Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K.

Am J Med Genet A. 2014 Sep;164A(9):2240-9. doi: 10.1002/ajmg.a.36633. Epub 2014 Jun 18.

32.

Disclosure of genetic research results to members of a founder population.

Anderson RL, Murray K, Chong JX, Ouwenga R, Antillon M, Chen P, Diaz de Leon L, Swoboda KJ, Lester LA, Das S, Ober C, Waggoner DJ.

J Genet Couns. 2014 Dec;23(6):984-91. doi: 10.1007/s10897-014-9721-8. Epub 2014 Apr 29.

33.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

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, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ.

Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10.

34.

Solving glycosylation disorders: fundamental approaches reveal complicated pathways.

Freeze HH, Chong JX, Bamshad MJ, Ng BG.

Am J Hum Genet. 2014 Feb 6;94(2):161-75. doi: 10.1016/j.ajhg.2013.10.024. Review.

35.

Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.

Gerull B, Kirchner F, Chong JX, Tagoe J, Chandrasekharan K, Strohm O, Waggoner D, Ober C, Duff HJ.

Circ Cardiovasc Genet. 2013 Aug;6(4):327-36. doi: 10.1161/CIRCGENETICS.113.000097. Epub 2013 Jul 17.

PMID:
23863954
36.

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.

Bögershausen N, Shahrzad N, Chong JX, von Kleist-Retzow JC, Stanga D, Li Y, Bernier FP, Loucks CM, Wirth R, Puffenberger EG, Hegele RA, Schreml J, Lapointe G, Keupp K, Brett CL, Anderson R, Hahn A, Innes AM, Suchowersky O, Mets MB, Nürnberg G, McLeod DR, Thiele H, Waggoner D, Altmüller J, Boycott KM, Schoser B, Nürnberg P, Ober C, Heller R, Parboosingh JS, Wollnik B, Sacher M, Lamont RE.

Am J Hum Genet. 2013 Jul 11;93(1):181-90. doi: 10.1016/j.ajhg.2013.05.028. Epub 2013 Jul 3.

37.

Practices and policies of clinical exome sequencing providers: analysis and implications.

Jamal SM, Yu JH, Chong JX, Dent KM, Conta JH, Tabor HK, Bamshad MJ.

Am J Med Genet A. 2013 May;161A(5):935-50. doi: 10.1002/ajmg.a.35942.

38.

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.

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, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics, Freeze HH.

Am J Hum Genet. 2013 Apr 4;92(4):632-6. doi: 10.1016/j.ajhg.2013.03.012.

39.

Estimating the human mutation rate using autozygosity in a founder population.

Campbell CD, Chong JX, Malig M, Ko A, Dumont BL, Han L, Vives L, O'Roak BJ, Sudmant PH, Shendure J, Abney M, Ober C, Eichler EE.

Nat Genet. 2012 Nov;44(11):1277-81. doi: 10.1038/ng.2418. Epub 2012 Sep 23.

40.

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C.

Am J Hum Genet. 2012 Oct 5;91(4):608-20. doi: 10.1016/j.ajhg.2012.08.007. Epub 2012 Sep 13.

41.

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.

Loucks C, Parboosingh JS, Chong JX, Ober C, Siu VM, Hegele RA, Rupar CA, McLeod DR, Pinto A, Chudley AE, Innes AM.

Am J Med Genet A. 2012 May;158A(5):1229-32. doi: 10.1002/ajmg.a.35302. Epub 2012 Apr 11. No abstract available.

42.

Accurate imputation of rare and common variants in a founder population from a small number of sequenced individuals.

Uricchio LH, Chong JX, Ross KD, Ober C, Nicolae DL.

Genet Epidemiol. 2012 May;36(4):312-9. doi: 10.1002/gepi.21623. Epub 2012 Mar 28.

43.

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites.

Chong JX, Oktay AA, Dai Z, Swoboda KJ, Prior TW, Ober C.

Eur J Hum Genet. 2011 Oct;19(10):1045-51. doi: 10.1038/ejhg.2011.85. Epub 2011 May 25.

44.

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.

Çalışkan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C.

Hum Mol Genet. 2011 Apr 1;20(7):1285-9. doi: 10.1093/hmg/ddq569. Epub 2011 Jan 6.

Supplemental Content

Loading ...
Support Center