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Items: 1 to 20 of 323

1.

Risk-Reducing Oophorectomy and Breast Cancer Risk Across the Spectrum of Familial Risk.

Terry MB, Daly MB, Phillips KA, Ma X, Zeinomar N, Leoce N, Dite GS, MacInnis RJ, Chung WK, Knight JA, Southey MC, Milne RL, Goldgar D, Giles GG, Weideman PC, Glendon G; kConFab Investigators, Buchsbaum R, Andrulis IL, John EM, Buys SS, Hopper JL.

J Natl Cancer Inst. 2018 Nov 28. doi: 10.1093/jnci/djy182. [Epub ahead of print]

PMID:
30496449
2.

The Burden of Candidate Pathogenic Variants for Kidney and Genitourinary Disorders Emerging From Exome Sequencing.

Rasouly HM, Groopman EE, Heyman-Kantor R, Fasel DA, Mitrotti A, Westland R, Bier L, Weng C, Ren Z, Copeland B, Krithivasan P, Chung WK, Sanna-Cherchi S, Goldstein DB, Gharavi AG.

Ann Intern Med. 2018 Nov 27. doi: 10.7326/M18-1241. [Epub ahead of print]

PMID:
30476936
3.

A newly identified mutation in the PEX26 gene is associated with a milder type of Zellweger spectrum disorder.

Tanaka A, Okumoto K, Tamura S, Abe Y, Hirsch Y, Deng L, Ekstein J, Chung WK, Fujiki Y.

Cold Spring Harb Mol Case Stud. 2018 Nov 16. pii: mcs.a003483. doi: 10.1101/mcs.a003483. [Epub ahead of print]

4.

Age-specific breast cancer risk by body mass index and familial risk: prospective family study cohort (ProF-SC).

Hopper JL, Dite GS, MacInnis RJ, Liao Y, Zeinomar N, Knight JA, Southey MC, Milne RL, Chung WK, Giles GG, Genkinger JM, McLachlan SA, Friedlander ML, Antoniou AC, Weideman PC, Glendon G, Nesci S; kConFab Investigators, Andrulis IL, Buys SS, Daly MB, John EM, Phillips KA, Terry MB.

Breast Cancer Res. 2018 Nov 3;20(1):132. doi: 10.1186/s13058-018-1056-1.

5.

Loss-of-Function ABCC8 Mutations in Pulmonary Arterial Hypertension.

Bohnen MS, Ma L, Zhu N, Qi H, McClenaghan C, Gonzaga-Jauregui C, Dewey FE, Overton JD, Reid JG, Shuldiner AR, Baras A, Sampson KJ, Bleda M, Hadinnapola C, Haimel M, Bogaard HJ, Church C, Coghlan G, Corris PA, Eyries M, Gibbs JSR, Girerd B, Houweling AC, Humbert M, Guignabert C, Kiely DG, Lawrie A, MacKenzie Ross RV, Martin JM, Montani D, Peacock AJ, Pepke-Zaba J, Soubrier F, Suntharalingam J, Toshner M, Treacy CM, Trembath RC, Vonk Noordegraaf A, Wharton J, Wilkins MR, Wort SJ, Yates K, Gräf S, Morrell NW, Krishnan U, Rosenzweig EB, Shen Y, Nichols CG, Kass RS, Chung WK.

Circ Genom Precis Med. 2018 Oct;11(10):e002087. doi: 10.1161/CIRCGEN.118.002087.

PMID:
30354297
6.

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernández B, Gener B; DDD study, Fawcett KA, Gjergja-Juraški R, Pilz DT, Fry AE.

Am J Hum Genet. 2018 Nov 1;103(5):786-793. doi: 10.1016/j.ajhg.2018.09.012. Epub 2018 Oct 18.

PMID:
30343942
7.

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Qian F, Wang S, Mitchell J, McGuffog L, Barrowdale D, Leslie G, Oosterwijk JC, Chung WK, Evans DG, Engel C, Kast K, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Aittomäki K, Alducci E, Andrulis IL, Arun BK, Ausems MGEM, Azzollini J, Barouk-Simonet E, Barwell J, Belotti M, Benitez J, Berger A, Borg A, Bradbury AR, Brunet J, Buys SS, Caldes T, Caligo MA, Campbell I, Caputo SM, Chiquette J, Claes KBM, Margriet Collée J, Couch FJ, Coupier I, Daly MB, Davidson R, Diez O, Domchek SM, Donaldson A, Dorfling CM, Eeles R, Feliubadaló L, Foretova L, Fowler J, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Glendon G, Godwin AK, Gómez Garcia EB, Gronwald J, Hahnen E, Hamann U, Henderson A, Hendricks CB, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Izquierdo Á, Jakubowska A, Kaczmarek K, Kang E, Karlan BY, Kets CM, Kim SW, Kim Z, Kwong A, Laitman Y, Lasset C, Hyuk Lee M, Won Lee J, Lee J, Lester J, Lesueur F, Loud JT, Lubinski J, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Morrison PJ, Mouret-Fourme E, Nathanson KL, Neuhausen SL, Nevanlinna H, Niederacher D, Nielsen FC, Nussbaum RL, Offit K, Olah E, Ong KR, Ottini L, Park SK, Peterlongo P, Pfeiler G, Phelan CM, Poppe B, Pradhan N, Radice P, Ramus SJ, Rantala J, Robson M, Rodriguez GC, Schmutzler RK, Hutten Selkirk CG, Shah PD, Simard J, Singer CF, Sokolowska J, Stoppa-Lyonnet D, Sutter C, Yen Tan Y, Teixeira RM, Teo SH, Terry MB, Thomassen M, Tischkowitz M, Toland AE, Tucker KM, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Yannoukakos D; GEMO Study Collaborators; HEBON; EMBRACE, Greene MH, Rookus MA, Easton DF, Chenevix-Trench G, Antoniou AC, Goldgar DE, Olopade OI, Rebbeck TR, Huo D.

J Natl Cancer Inst. 2018 Oct 12. doi: 10.1093/jnci/djy132. [Epub ahead of print]

PMID:
30312457
8.

Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature.

Okur V, Ganapathi M, Wilson A, Chung WK.

Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5). pii: a003301. doi: 10.1101/mcs.a003301. Print 2018 Oct.

9.

Increasing genomic literacy among adolescents.

Sabatello M, Chen Y, Sanderson SC, Chung WK, Appelbaum PS.

Genet Med. 2018 Sep 14. doi: 10.1038/s41436-018-0275-2. [Epub ahead of print]

PMID:
30214064
10.

Laboratory considerations for prenatal genetic testing.

Wou K, Chung WK, Wapner RJ.

Semin Perinatol. 2018 Aug;42(5):307-313. doi: 10.1053/j.semperi.2018.07.020. Epub 2018 Jul 26. Review.

PMID:
30206017
11.

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

Granadillo JL, Chung WK, Hecht L, Corsten-Janssen N, Wegner D, Nij Bijvank SWA, Toler TL, Pineda-Alvarez DE, Douglas G, Murphy JJ, Shimony J, Shinawi M.

Hum Mutat. 2018 Dec;39(12):1875-1884. doi: 10.1002/humu.23627. Epub 2018 Sep 24.

PMID:
30157302
12.

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.

Porter KM, Kauffman TL, Koenig BA, Lewis KL, Rehm HL, Richards CS, Strande NT, Tabor HK, Wolf SM, Yang Y, Amendola LM, Azzariti DR, Berg JS, Bergstrom K, Biesecker LG, Biswas S, Bowling KM, Chung WK, Clayton EW, Conlin LK, Cooper GM, Dulik MC, Garraway LA, Ghazani AA, Green RC, Hiatt SM, Jamal SM, Jarvik GP, Goddard KAB, Wilfond BS; members of the CSER Actionability and Return of Results Working Group.

Mol Genet Genomic Med. 2018 Aug 21. doi: 10.1002/mgg3.453. [Epub ahead of print]

13.

Clinical presentation and natural history of infantile-onset ascending spastic paralysis from three families with an ALS2 founder variant.

Helal M, Mazaheri N, Shalbafan B, Malamiri RA, Dilaver N, Buchert R, Mohammadiasl J, Golchin N, Sedaghat A, Mehrjardi MYV, Haack TB, Riess O, Chung WK, Galehdari H, Shariati G, Maroofian R.

Neurol Sci. 2018 Nov;39(11):1917-1925. doi: 10.1007/s10072-018-3526-8. Epub 2018 Aug 21.

PMID:
30128655
14.

Recurrent diffuse lung disease due to surfactant protein C deficiency.

Kazzi B, Lederer D, Arteaga-Solis E, Saqi A, Chung WK.

Respir Med Case Rep. 2018 Jul 19;25:91-95. doi: 10.1016/j.rmcr.2018.07.003. eCollection 2018.

15.

Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.

Burnside RD, Molinari S, Botti C, Brooks SS, Chung WK, Mehta L, Schwartz S, Papenhausen P.

Am J Med Genet A. 2018 Sep;176(9):1956-1963. doi: 10.1002/ajmg.a.40355. Epub 2018 Aug 8.

PMID:
30088856
16.

Pulmonary hypertension in patients with 9q34.3 microdeletion-associated Kleefstra syndrome.

Okur V, Nees S, Chung WK, Krishnan U.

Am J Med Genet A. 2018 Aug;176(8):1773-1777. doi: 10.1002/ajmg.a.38852. Epub 2018 Jul 31.

PMID:
30063093
17.

Parental perceptions of prenatal whole exome sequencing (PPPWES) study.

Wou K, Weitz T, McCormack C, Wynn J, Spiegel E, Giordano J, Wapner RJ, Chung WK.

Prenat Diagn. 2018 Oct;38(11):801-811. doi: 10.1002/pd.5332. Epub 2018 Aug 5.

PMID:
30035818
18.

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.

Zhu N, Welch CL, Wang J, Allen PM, Gonzaga-Jauregui C, Ma L, King AK, Krishnan U, Rosenzweig EB, Ivy DD, Austin ED, Hamid R, Pauciulo MW, Lutz KA, Nichols WC, Reid JG, Overton JD, Baras A, Dewey FE, Shen Y, Chung WK.

Genome Med. 2018 Jul 20;10(1):56. doi: 10.1186/s13073-018-0566-x.

19.

Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs.

Williams JL, Chung WK, Fedotov A, Kiryluk K, Weng C, Connolly JJ, Harr M, Hakonarson H, Leppig KA, Larson EB, Jarvik GP, Veenstra DL, Hoell C, Smith ME, Holm IA, Peterson JF, Williams MS.

Healthcare (Basel). 2018 Jul 13;6(3). pii: E83. doi: 10.3390/healthcare6030083.

20.

Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function.

Xu Z, Lo WS, Beck DB, Schuch LA, Oláhová M, Kopajtich R, Chong YE, Alston CL, Seidl E, Zhai L, Lau CF, Timchak D, LeDuc CA, Borczuk AC, Teich AF, Juusola J, Sofeso C, Müller C, Pierre G, Hilliard T, Turnpenny PD, Wagner M, Kappler M, Brasch F, Bouffard JP, Nangle LA, Yang XL, Zhang M, Taylor RW, Prokisch H, Griese M, Chung WK, Schimmel P.

Am J Hum Genet. 2018 Jul 5;103(1):100-114. doi: 10.1016/j.ajhg.2018.06.006.

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