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1.

Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Network.

Williams MS, Taylor CO, Walton NA, Goehringer SR, Aronson S, Freimuth RR, Rasmussen LV, Hall ES, Prows CA, Chung WK, Fedotov A, Nestor J, Weng C, Rowley RK, Wiesner GL, Jarvik GP, Del Fiol G.

Front Genet. 2019 Oct 29;10:1059. doi: 10.3389/fgene.2019.01059. eCollection 2019.

2.

Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.

Zhu N, Pauciulo MW, Welch CL, Lutz KA, Coleman AW, Gonzaga-Jauregui C, Wang J, Grimes JM, Martin LJ, He H; PAH Biobank Enrolling Centers’ Investigators, Shen Y, Chung WK, Nichols WC.

Genome Med. 2019 Nov 14;11(1):69. doi: 10.1186/s13073-019-0685-z.

3.

Psychotic symptoms in 16p11.2 copy-number variant carriers.

Jutla A, Turner JB, Green Snyder L, Chung WK, Veenstra-VanderWeele J.

Autism Res. 2019 Nov 14. doi: 10.1002/aur.2232. [Epub ahead of print]

PMID:
31724820
4.

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness.

Patel VL, Busch EL, Friebel TM, Cronin A, Leslie G, McGuffog L, Adlard J, Agata S, Agnarsson BA, Ahmed M, Aittomäki K, Alducci E, Andrulis IL, Arason A, Arnold N, Artioli G, Arver B, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barnes DR, Barroso A, Barrowdale D, Belotti M, Benitez J, Bertelsen B, Blok MJ, Bodrogi I, Bonadona V, Bonanni B, Bondavalli D, Boonen SE, Borde J, Borg A, Bradbury AR, Brady A, Brewer C, Brunet J, Buecher B, Buys SS, Cabezas-Camarero S, Caldés T, Caliebe A, Caligo MA, Calvello M, Campbell IG, Carnevali I, Carrasco E, Chan TL, Chu ATW, Chung WK, Claes KBM, Collaborators GS, Collaborators E, Cook J, Cortesi L, Couch FJ, Daly MB, Damante G, Darder E, Davidson R, de la Hoya M, Della Puppa L, Dennis J, Díez O, Ding YC, Ditsch N, Domchek SM, Donaldson A, Dworniczak B, Easton DF, Eccles DM, Eeles RA, Ehrencrona H, Ejlertsen B, Engel C, Evans DG, Faivre L, Faust U, Feliubadaló L, Foretova L, Fostira F, Fountzilas G, Frost D, García-Barberán V, Garre P, Gauthier-Villars M, Géczi L, Gehrig A, Gerdes AM, Gesta P, Giannini G, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gutierrez-Barrera AM, Hahnen E, Hamann U, Hauke J, Herold N, Hogervorst FBL, Honisch E, Hopper JL, Hulick PJ, Investigators K, Investigators H, Izatt L, Jager A, James P, Janavicius R, Jensen UB, Jensen TD, Johannsson OT, John EM, Joseph V, Kang E, Kast K, Kiiski JI, Kim SW, Kim Z, Ko KP, Konstantopoulou I, Kramer G, Krogh L, Kruse TA, Kwong A, Larsen M, Lasset C, Lautrup C, Lázaro C, Lee J, Lee JW, Lee MH, Lemke J, Lesueur F, Liljegren A, Lindblom A, Llovet P, Lopez-Fernández A, Lopez-Perolio I, Lorca V, Loud JT, Ma ESK, Mai PL, Manoukian S, Mari V, Martin L, Matricardi L, Mebirouk N, Medici V, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Miller C, Molina Gomes D, Montagna M, Mooij TM, Moserle L, Mouret-Fourme E, Mulligan AM, Nathanson KL, Navratilova M, Nevanlinna H, Niederacher D, Cilius Nielsen FC, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Ong KR, Osorio A, Ott CE, Palli D, Park SK, Parsons MT, Pedersen IS, Peissel B, Peixoto A, Pérez-Segura P, Peterlongo P, Høgh Petersen A, Porteous ME, Pujana MA, Radice P, Ramser J, Rantala J, Rashid MU, Rhiem K, Rizzolo P, Robson ME, Rookus MA, Rossing CM, Ruddy KJ, Santos C, Saule C, Scarpitta R, Schmutzler RK, Schuster H, Senter L, Seynaeve CM, Shah PD, Sharma P, Shin VY, Silvestri V, Simard J, Singer CF, Skytte AB, Snape K, Solano AR, Soucy P, Southey MC, Spurdle AB, Steele L, Steinemann D, Stoppa-Lyonnet D, Stradella A, Sunde L, Sutter C, Tan YY, Teixeira MR, Teo SH, Thomassen M, Tibiletti MG, Tischkowitz M, Tognazzo S, Toland AE, Tommasi S, Torres D, Toss A, Trainer AH, Tung N, van Asperen CJ, van der Baan FH, van der Kolk LE, van der Luijt RB, van Hest LP, Varesco L, Varon-Mateeva R, Viel A, Vierstraete J, Villa R, von Wachenfeldt A, Wagner P, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Wieme G, Yadav S, Yannoukakos D, Yoon SY, Zanzottera C, Zorn KK, D'Amico AV, Freedman ML, Pomerantz MM, Chenevix-Trench G, Antoniou AC, Neuhausen SL, Ottini L, Nielsen HR, Rebbeck TR.

Cancer Res. 2019 Nov 13. pii: canres.1840.2019. doi: 10.1158/0008-5472.CAN-19-1840. [Epub ahead of print]

PMID:
31723001
5.

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Figlioli G, Bogliolo M, Catucci I, Caleca L, Lasheras SV, Pujol R, Kiiski JI, Muranen TA, Barnes DR, Dennis J, Michailidou K, Bolla MK, Leslie G, Aalfs CM; ABCTB Investigators, Adank MA, Adlard J, Agata S, Cadoo K, Agnarsson BA, Ahearn T, Aittomäki K, Ambrosone CB, Andrews L, Anton-Culver H, Antonenkova NN, Arndt V, Arnold N, Aronson KJ, Arun BK, Asseryanis E, Auber B, Auvinen P, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Beane Freeman LE, Beauparlant CJ, Beckmann MW, Behrens S, Benitez J, Berger R, Bermisheva M, Blanco AM, Blomqvist C, Bogdanova NV, Bojesen A, Bojesen SE, Bonanni B, Borg A, Brady AF, Brauch H, Brenner H, Brüning T, Burwinkel B, Buys SS, Caldés T, Caliebe A, Caligo MA, Campa D, Campbell IG, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Claes KBM, Clarke CL, Collavoli A, Conner TA, Cox DG, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Ditsch N, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Durda K, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Ellberg C, Eriksson M, Evans DG, Fasching PA, Figueroa J, Flyger H, Foulkes WD, Friebel TM, Friedman E, Gabrielson M, Gaddam P, Gago-Dominguez M, Gao C, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Gayther SA; GEMO Study Collaborators, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Guénel P, Gutierrez-Barrera AM, Haeberle L, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hein A, Heyworth J, Hillemanns P, Hollestelle A, Hopper JL, Hosgood HD 3rd, Howell A, Hu C, Hulick PJ, Hunter DJ, Imyanitov EN; KConFab, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Janni W, John EM, Jones ME, Jung A, Kaaks R, Karlan BY, Khusnutdinova E, Kitahara CM, Konstantopoulou I, Koutros S, Kraft P, Lambrechts D, Lazaro C, Le Marchand L, Lester J, Lesueur F, Lilyquist J, Loud JT, Lu KH, Luben RN, Lubinski J, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Maurer T, Mavroudis D, Mebirouk N, Meindl A, Menon U, Miller A, Montagna M, Nathanson KL, Neuhausen SL, Newman WG, Nguyen-Dumont T, Nielsen FC, Nielsen S, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olshan AF, Olson JE, Olsson H, Osorio A, Ottini L, Peissel B, Peixoto A, Peto J, Plaseska-Karanfilska D, Pocza T, Presneau N, Pujana MA, Punie K, Rack B, Rantala J, Rashid MU, Rau-Murthy R, Rennert G, Lejbkowicz F, Rhenius V, Romero A, Rookus MA, Ross EA, Rossing M, Rudaitis V, Ruebner M, Saloustros E, Sanden K, Santamariña M, Scheuner MT, Schmutzler RK, Schneider M, Scott C, Senter L, Shah M, Sharma P, Shu XO, Simard J, Singer CF, Sohn C, Soucy P, Southey MC, Spinelli JJ, Steele L, Stoppa-Lyonnet D, Tapper WJ, Teixeira MR, Terry MB, Thomassen M, Thompson J, Thull DL, Tischkowitz M, Tollenaar RAEM, Torres D, Troester MA, Truong T, Tung N, Untch M, Vachon CM, van Rensburg EJ, van Veen EM, Vega A, Viel A, Wappenschmidt B, Weitzel JN, Wendt C, Wieme G, Wolk A, Yang XR, Zheng W, Ziogas A, Zorn KK, Dunning AM, Lush M, Wang Q, McGuffog L, Parsons MT, Pharoah PDP, Fostira F, Toland AE, Andrulis IL, Ramus SJ, Swerdlow AJ, Greene MH, Chung WK, Milne RL, Chenevix-Trench G, Dörk T, Schmidt MK, Easton DF, Radice P, Hahnen E, Antoniou AC, Couch FJ, Nevanlinna H, Surrallés J, Peterlongo P.

NPJ Breast Cancer. 2019 Nov 1;5:38. doi: 10.1038/s41523-019-0127-5. eCollection 2019.

6.

Comparative Outcomes of Right Versus Left Congenital Diaphragmatic Hernia: A Multicenter Analysis.

Abramov A, Fan W, Hernan R, Zenilman AL, Wynn J, Aspelund G, Khlevner J, Krishnan U, Lim FY, Mychaliska GB, Warner BW, Cusick R, Crombleholme T, Chung D, Danko ME, Wagner AJ, Azarow K, Schindel D, Potoka D, Soffer S, Fisher J, McCulley D, Farkouh-Karoleski C, Chung WK, Duron V.

J Pediatr Surg. 2019 Oct 26. pii: S0022-3468(19)30698-0. doi: 10.1016/j.jpedsurg.2019.09.046. [Epub ahead of print]

PMID:
31677822
7.

Survival outcomes of breast cancer patients with brain metastases: A multicenter retrospective study in Korea (KROG 16-12).

Kim JS, Kim K, Jung W, Shin KH, Im SA, Kim HJ, Kim YB, Chang JS, Choi DH, Park YH, Kim DY, Kim TH, Choi BO, Lee SW, Kim S, Kwon J, Kang KM, Chung WK, Kim KS, Nam JH, Yoon WS, Kim JH, Cha J, Oh YK, Kim IA.

Breast. 2019 Oct 22;49:41-47. doi: 10.1016/j.breast.2019.10.007. [Epub ahead of print]

8.

Cases in Precision Medicine: The Role of Tumor and Germline Genetic Testing in Breast Cancer Management.

Tischler J, Crew KD, Chung WK.

Ann Intern Med. 2019 Oct 22. doi: 10.7326/M18-2417. [Epub ahead of print]

PMID:
31634909
9.

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.

Watkins WS, Hernandez EJ, Wesolowski S, Bisgrove BW, Sunderland RT, Lin E, Lemmon G, Demarest BL, Miller TA, Bernstein D, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Newburger JW, Seidman CE, Shen Y, Yost HJ, Yandell M, Tristani-Firouzi M.

Nat Commun. 2019 Oct 17;10(1):4722. doi: 10.1038/s41467-019-12582-y.

10.

Is there a duty to reinterpret genetic data? The ethical dimensions.

Appelbaum PS, Parens E, Berger SM, Chung WK, Burke W.

Genet Med. 2019 Oct 15. doi: 10.1038/s41436-019-0679-7. [Epub ahead of print]

PMID:
31616070
11.

Functional Consequences of the SCN5A-p.Y1977N Mutation within the PY Ubiquitylation Motif: Discrepancy between HEK293 Cells and Transgenic Mice.

Casini S, Albesa M, Wang Z, Portero V, Ross-Kaschitza D, Rougier JS, Marchal GA, Chung WK, Bezzina CR, Abriel H, Remme CA.

Int J Mol Sci. 2019 Oct 11;20(20). pii: E5033. doi: 10.3390/ijms20205033.

12.

Training-Free Bayesian Self-Adaptive Classification for sEMG Pattern Recognition Including Motion Transition.

Park S, Chung WK, Kim K.

IEEE Trans Biomed Eng. 2019 Oct 14. doi: 10.1109/TBME.2019.2947089. [Epub ahead of print]

PMID:
31613748
13.

Prognostic significance of lymphovascular invasion in patients with prostate cancer treated with postoperative radiotherapy.

Jeong JU, Nam TK, Song JY, Yoon MS, Ahn SJ, Chung WK, Cho IJ, Kim YH, Cho SH, Jung SI, Kwon DD.

Radiat Oncol J. 2019 Sep;37(3):215-223. doi: 10.3857/roj.2019.00332. Epub 2019 Sep 30.

14.

Genetic attribution and perceived impact of epilepsy in multiplex epilepsy families.

Garofalo DC, Sorge ST, Hesdorffer DC, Winawer MR, Phelan JC, Chung WK, Ottman R.

Epilepsia. 2019 Nov;60(11):2286-2293. doi: 10.1111/epi.16352. Epub 2019 Oct 6.

PMID:
31587270
15.

Considerations when using breast cancer risk models for women with negative BRCA1/BRCA2 mutation results.

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

J Natl Cancer Inst. 2019 Oct 4. pii: djz194. doi: 10.1093/jnci/djz194. [Epub ahead of print]

PMID:
31584660
16.

Recreational physical activity is associated with reduced breast cancer risk in adult women at high risk for breast cancer: a cohort study of women selected for familial and genetic risk.

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

Cancer Res. 2019 Oct 2. pii: canres.1847.2019. doi: 10.1158/0008-5472.CAN-19-1847. [Epub ahead of print]

PMID:
31578201
17.

Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.

Okur V, Watschinger K, Niyazov D, McCarrier J, Basel D, Hermann M, Werner ER, Chung WK.

Hum Genet. 2019 Sep 25. doi: 10.1007/s00439-019-02065-x. [Epub ahead of print]

PMID:
31555905
18.

Impact of patient education videos on genetic counseling outcomes after exome sequencing.

Hernan R, Cho MT, Wilson AL, Ahimaz P, Au C, Berger SM, Guzman E, Primiano M, Shaw JE, Ross M, Tabanfar L, Chilton I, Griffin E, Ratner C, Anyane-Yeboa K, Iglesias A, Pisani L, Roohi J, Duong J, Martinez J, Appelbaum P, Klitzman R, Ottman R, Chung WK, Wynn J.

Patient Educ Couns. 2019 Aug 24. pii: S0738-3991(19)30358-1. doi: 10.1016/j.pec.2019.08.018. [Epub ahead of print]

PMID:
31521424
19.

Radiation hardness of cadmium telluride solar cells in proton therapy beam mode.

Cho S, Ahn SH, Cho IJ, Kim YH, Jeong JU, Yoon MS, Ahn SJ, Chung WK, Nam TK, Song JY.

PLoS One. 2019 Sep 12;14(9):e0221655. doi: 10.1371/journal.pone.0221655. eCollection 2019.

20.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV.

Am J Hum Genet. 2019 Sep 5;105(3):672-674. doi: 10.1016/j.ajhg.2019.07.017. No abstract available.

21.

Evaluation of Prognostic Factors for the Parotid Cancer Treated With Surgery and Postoperative Radiotherapy.

Kim YH, Chung WK, Jeong JU, Cho IJ, Yoon MS, Song JY, Nam TK, Ahn SJ, Lee DH, Yoon TM, Lee JK, Lim SC.

Clin Exp Otorhinolaryngol. 2019 Sep 5. doi: 10.21053/ceo.2019.00388. [Epub ahead of print]

22.

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.

Feliciano P, Zhou X, Astrovskaya I, Turner TN, Wang T, Brueggeman L, Barnard R, Hsieh A, Snyder LG, Muzny DM, Sabo A; SPARK Consortium, Gibbs RA, Eichler EE, O'Roak BJ, Michaelson JJ, Volfovsky N, Shen Y, Chung WK.

NPJ Genom Med. 2019 Aug 23;4:19. doi: 10.1038/s41525-019-0093-8. eCollection 2019.

23.

The influence of genetics in congenital diaphragmatic hernia.

Yu L, Hernan RR, Wynn J, Chung WK.

Semin Perinatol. 2019 Aug 1:151169. doi: 10.1053/j.semperi.2019.07.008. [Epub ahead of print] Review.

PMID:
31443905
24.

A Novel Solvent-based Method to Separate Duct Tape from Porous Surface for Fingerprint Development.

Tan TTF, Law PPK, Kwok SWK, Yeung WWL, Ho WC, Chung WK, Au BC.

J Forensic Sci. 2019 Aug 9. doi: 10.1111/1556-4029.14146. [Epub ahead of print]

PMID:
31397890
25.

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.

Lyon GJ, Marchi E, Ekstein J, Meiner V, Hirsch Y, Scher S, Yang E, De Vivo DC, Madrid R, Li Q, Wang K, Haworth A, Chilton I, Chung WK, Velinov M.

Cold Spring Harb Mol Case Stud. 2019 Aug 6. pii: mcs.a003715. doi: 10.1101/mcs.a003715. [Epub ahead of print]

26.

Preliminary Study of Virtual sEMG Signal-Assisted Classification.

Kim M, Chung WK, Kim K.

IEEE Int Conf Rehabil Robot. 2019 Jun;2019:1133-1138. doi: 10.1109/ICORR.2019.8779484.

PMID:
31374782
27.

Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study.

Schrijver LH, Olsson H, Phillips KA, Terry MB, Goldgar DE, Kast K, Engel C, Mooij TM, Adlard J, Barrowdale D, Davidson R, Eeles R, Ellis S, Evans DG, Frost D, Izatt L, Porteous ME, Side LE, Walker L, Berthet P, Bonadona V, Leroux D, Mouret-Fourme E, Venat-Bouvet L, Buys SS, Southey MC, John EM, Chung WK, Daly MB, Bane A, van Asperen CJ, Gómez Garcia EB, Mourits MJE, van Os TAM, Roos-Blom MJ, Friedlander ML, McLachlan SA, Singer CF, Tan YY, Foretova L, Navratilova M, Gerdes AM, Caldes T, Simard J, Olah E, Jakubowska A, Arver B, Osorio A, Noguès C, Andrieu N, Easton DF, van Leeuwen FE, Hopper JL, Milne RL, Antoniou AC, Rookus MA; EMBRACE, GENEPSO, BCFR, HEBON, kConFab, and IBCCS.

JNCI Cancer Spectr. 2018 Jun 28;2(2):pky023. doi: 10.1093/jncics/pky023. eCollection 2018 Apr. Erratum in: JNCI Cancer Spectr. 2018 Aug 17;2(3):pky041.

28.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC; Undiagnosed Diseases Network, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV.

Am J Hum Genet. 2019 Aug 1;105(2):413-424. doi: 10.1016/j.ajhg.2019.06.014. Epub 2019 Jul 18. Erratum in: Am J Hum Genet. 2019 Sep 5;105(3):672-674.

PMID:
31327508
29.

Applying Deep Neural Network Analysis to High-Content Image-Based Assays.

Yang SJ, Lipnick SL, Makhortova NR, Venugopalan S, Fan M, Armstrong Z, Schlaeger TM, Deng L, Chung WK, O'Callaghan L, Geraschenko A, Whye D, Berndl M, Hazard J, Williams B, Narayanaswamy A, Ando DM, Nelson P, Rubin LL.

SLAS Discov. 2019 Sep;24(8):829-841. doi: 10.1177/2472555219857715. Epub 2019 Jul 8.

30.

Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers.

Hinkley LBN, Dale CL, Luks TL, Findlay AM, Bukshpun P, Pojman N, Thieu T, Chung WK, Berman J, Roberts TPL, Mukherjee P, Sherr EH, Nagarajan SS.

J Neurosci. 2019 Sep 11;39(37):7321-7331. doi: 10.1523/JNEUROSCI.3001-17.2019. Epub 2019 Jul 3.

PMID:
31270155
31.

Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility.

Robson A, Makova SZ, Barish S, Zaidi S, Mehta S, Drozd J, Jin SC, Gelb BD, Seidman CE, Chung WK, Lifton RP, Khokha MK, Brueckner M.

Proc Natl Acad Sci U S A. 2019 Jul 9;116(28):14049-14054. doi: 10.1073/pnas.1808341116. Epub 2019 Jun 24.

PMID:
31235600
32.

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.

Qian F, Rookus MA, Leslie G, Risch HA, Greene MH, Aalfs CM, Adank MA, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arnold N, Arun BK, Ausems MGEM, Azzollini J, Barrowdale D, Barwell J, Benitez J, Białkowska K, Bonadona V, Borde J, Borg A, Bradbury AR, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Carter J, Chiquette J, Chung WK, Claes KBM, Collée JM, Collonge-Rame MA, Couch FJ, Daly MB, Delnatte C, Diez O, Domchek SM, Dorfling CM, Eason J, Easton DF, Eeles R, Engel C, Evans DG, Faivre L, Feliubadaló L, Foretova L, Friedman E, Frost D, Ganz PA, Garber J, Garcia-Barberan V, Gehrig A, Glendon G, Godwin AK, Gómez Garcia EB, Hamann U, Hauke J, Hopper JL, Hulick PJ, Imyanitov EN, Isaacs C, Izatt L, Jakubowska A, Janavicius R, John EM, Karlan BY, Kets CM, Laitman Y, Lázaro C, Leroux D, Lester J, Lesueur F, Loud JT, Lubiński J, Łukomska A, McGuffog L, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Miller A, Montagna M, Mooij TM, Mouret-Fourme E, Nathanson KL, Nehoray B, Neuhausen SL, Nevanlinna H, Nielsen FC, Offit K, Olah E, Ong KR, Oosterwijk JC, Ottini L, Parsons MT, Peterlongo P, Pfeiler G, Pradhan N, Radice P, Ramus SJ, Rantala J, Rennert G, Robson M, Rodriguez GC, Salani R, Scheuner MT, Schmutzler RK, Shah PD, Side LE, Simard J, Singer CF, Steinemann D, Stoppa-Lyonnet D, Tan YY, Teixeira MR, Terry MB, Thomassen M, Tischkowitz M, Tognazzo S, Toland AE, Tung N, van Asperen CJ, van Engelen K, van Rensburg EJ, Venat-Bouvet L, Vierstraete J, Wagner G, Walker L, Weitzel JN, Yannoukakos D; KConFab Investigators; HEBON Investigators; GEMO Study Collaborators; EMBRACE Collaborators, Antoniou AC, Goldgar DE, Olopade OI, Chenevix-Trench G, Rebbeck TR, Huo D; CIMBA.

Br J Cancer. 2019 Jul;121(2):180-192. doi: 10.1038/s41416-019-0492-8. Epub 2019 Jun 19.

PMID:
31213659
33.

Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies.

Robinson JO, Wynn J, Biesecker B, Biesecker LG, Bernhardt B, Brothers KB, Chung WK, Christensen KD, Green RC, McGuire AL, Hart MR, Griesemer I, Patrick DL, Rini C, Veenstra D, Cronin AM, Gray SW.

Genet Med. 2019 Jun 13. doi: 10.1038/s41436-019-0565-3. [Epub ahead of print]

PMID:
31189963
34.

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.

Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, Brunner H, Hoang N, Scherer SW, Sahin M, Miller DT; NDD Exome Scoping Review Work Group.

Genet Med. 2019 Nov;21(11):2413-2421. doi: 10.1038/s41436-019-0554-6. Epub 2019 Jun 11.

35.

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants.

Craddock KE, Okur V, Wilson A, Gerkes EH, Ramsey K, Heeley JM, Juusola J, Vitobello A, Dupeyron MB, Faivre L, Chung WK.

Cold Spring Harb Mol Case Stud. 2019 Aug 1;5(4). pii: a004200. doi: 10.1101/mcs.a004200. Print 2019 Aug.

36.

Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother.

Wise-Oringer BK, Zanazzi GJ, Gordon RJ, Wardlaw SL, William C, Anyane-Yeboa K, Chung WK, Kohn B, Wisoff JH, David R, Oberfield SE.

J Clin Endocrinol Metab. 2019 Oct 1;104(10):4667-4675. doi: 10.1210/jc.2019-00817.

PMID:
31166600
37.

Understanding Factors Associated with Uptake of BRCA1/2 Genetic Testing among Orthodox Jewish Women in the USA Using a Mixed-Methods Approach.

Trivedi MS, Colbeth H, Yi H, Vanegas A, Starck R, Chung WK, Appelbaum PS, Kukafka R, Schechter I, Crew KD.

Public Health Genomics. 2018;21(5-6):186-196. doi: 10.1159/000499852. Epub 2019 Jun 4.

PMID:
31163445
38.

The FTO Gene and Measured Food Intake in 5- to 10-Year-Old Children Without Obesity.

Ranzenhofer LM, Mayer LES, Davis HA, Mielke-Maday HK, McInerney H, Korn R, Gupta N, Brown AJ, Schebendach J, Tanofsky-Kraff M, Thaker V, Chung WK, Leibel RL, Walsh BT, Rosenbaum M.

Obesity (Silver Spring). 2019 Jun;27(6):1023-1029. doi: 10.1002/oby.22464.

PMID:
31119882
39.

Cases in Precision Medicine: The Role of Pharmacogenetics in Precision Prescribing.

Lin B, Chung WK.

Ann Intern Med. 2019 Jun 4;170(11):796-804. doi: 10.7326/M18-2357. Epub 2019 May 21.

PMID:
31108507
40.

United States Pulmonary Hypertension Scientific Registry (USPHSR): rationale, design, and clinical implications.

Elliott CG, Austin ED, Badesch D, Badlam J, Benza RL, Chung WK, Farber HW, Feldkircher K, Frost AE, Poms AD, Lutz KA, Pauciulo MW, Yu C, Nichols WC.

Pulm Circ. 2019 Apr-Jun;9(2):2045894019851696. doi: 10.1177/2045894019851696.

41.

Cases in Precision Medicine: Genetic Assessment After a Sudden Cardiac Death in the Family.

Laracuente R, Waase MP, Kalia I, Wilde AAM, Chung WK.

Ann Intern Med. 2019 May 21;170(10):710-716. doi: 10.7326/M18-2359. Epub 2019 May 14.

PMID:
31083726
42.

Nylon mesh-based sample holder for fixed-target serial femtosecond crystallography.

Lee D, Baek S, Park J, Lee K, Kim J, Lee SJ, Chung WK, Lee JL, Cho Y, Nam KH.

Sci Rep. 2019 May 6;9(1):6971. doi: 10.1038/s41598-019-43485-z.

43.

A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

Beck DB, Subramanian T, Vijayalingam S, Ezekiel UR, Donkervoort S, Yang ML, Dubbs HA, Ortiz-Gonzalez XR, Lakhani S, Segal D, Au M, Graham JM Jr, Verma S, Waggoner D, Shinawi M, Bönnemann CG, Chung WK, Chinnadurai G.

Neurogenetics. 2019 Aug;20(3):129-143. doi: 10.1007/s10048-019-00578-1. Epub 2019 Apr 30.

PMID:
31041561
44.

Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.

Rasouly HM, Wynn J, Marasa M, Reingold R, Chatterjee D, Kapoor S, Piva S, Kil BH, Mu X, Alvarez M, Nestor J, Mehl K, Revah-Politi A, Lippa N, Ernst ME, Bier L, Espinal A, Haser B, Sinha A, Halim I, Fasel D, Cuneo N, Thompson JJ, Verbitsky M, Cohn EG, Goldman J, Marder K, Klitzman RL, Orjuela MA, So YS, Fedotov A, Crew KD, Kiryluk K, Appelbaum PS, Weng C, Siegel K, Gharavi AG, Chung WK.

Genet Med. 2019 Oct;21(10):2407. doi: 10.1038/s41436-019-0528-8.

PMID:
31040387
45.

Precision Medicine in Internal Medicine.

Kiryluk K, Goldstein DB, Rowe JW, Gharavi AG, Wapner R, Chung WK.

Ann Intern Med. 2019 May 7;170(9):635-642. doi: 10.7326/M18-0425. Epub 2019 Apr 30.

PMID:
31035290
46.

Cases in Precision Medicine: When Patients Present With Direct-to-Consumer Genetic Test Results.

Artin MG, Stiles D, Kiryluk K, Chung WK.

Ann Intern Med. 2019 May 7;170(9):643-650. doi: 10.7326/M18-2356. Epub 2019 Apr 30.

PMID:
31035287
47.

Implementation of an experimental and computational tool set to study protein-mAb interactions.

Ranjan S, Chung WK, Zhu M, Robbins D, Cramer SM.

Biotechnol Prog. 2019 Jul;35(4):e2825. doi: 10.1002/btpr.2825. Epub 2019 May 13.

PMID:
31017347
48.

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG).

Deignan JL, Chung WK, Kearney HM, Monaghan KG, Rehder CW, Chao EC; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2019 Jun;21(6):1267-1270. doi: 10.1038/s41436-019-0478-1. Epub 2019 Apr 24. No abstract available.

49.

Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay.

Okur V, LeDuc CA, Guzman E, Valivullah ZM, Anyane-Yeboa K, Chung WK.

Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3). pii: a004101. doi: 10.1101/mcs.a004101. Print 2019 Jun.

50.

Regular use of aspirin and other non-steroidal anti-inflammatory drugs and breast cancer risk for women at familial or genetic risk: a cohort study.

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

Breast Cancer Res. 2019 Apr 18;21(1):52. doi: 10.1186/s13058-019-1135-y.

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