Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 628

1.

Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders.

Carey AS, Schacht JP, Umandap C, Fasel D, Weng C, Cappell J, Chung WK, Kernie SG.

Pediatr Res. 2020 Mar 27. doi: 10.1038/s41390-020-0858-x. [Epub ahead of print]

PMID:
32221475
2.

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.

Tan TY, Sedmík J, Fitzgerald MP, Halevy RS, Keegan LP, Helbig I, Basel-Salmon L, Cohen L, Straussberg R, Chung WK, Helal M, Maroofian R, Houlden H, Juusola J, Sadedin S, Pais L, Howell KB, White SM, Christodoulou J, O'Connell MA.

Am J Hum Genet. 2020 Mar 18. pii: S0002-9297(20)30057-4. doi: 10.1016/j.ajhg.2020.02.015. [Epub ahead of print]

PMID:
32220291
3.

Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial Hypertension.

Potus F, Pauciulo MW, Cook EK, Zhu N, Hsieh A, Welch CL, Shen Y, Tian L, Lima P, Mewburn J, D'Arsigny CL, Lutz KA, Coleman AW, Damico R, Snetsinger B, Martin AY, Hassoun PM, Nichols WC, Chung WK, Rauh MJ, Archer SL.

Circulation. 2020 Mar 20. doi: 10.1161/CIRCULATIONAHA.119.044320. [Epub ahead of print]

PMID:
32192357
4.

Can Clinical Genetics Laboratories be Sued for Medical Malpractice?

Foulkes AL, Roberts JL, Appelbaum PS, Chung WK, Clayton EW, Evans B, Marchant GE.

Ann Health Law Life Sci. 2020 Winter;29(1):153-172. No abstract available.

PMID:
32154515
5.

Pneumonia in Parkinson's disease: barium aspiration in videofluoroscopic swallowing study.

Chang KH, Tzeng YT, Wey JH, Liu YJ, Lin YN, Chung WK.

Respirol Case Rep. 2020 Mar 1;8(3):e00546. doi: 10.1002/rcr2.546. eCollection 2020 Apr.

6.

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.

Feng H, Gusev A, Pasaniuc B, Wu L, Long J, Abu-Full Z, Aittomäki K, Andrulis IL, Anton-Culver H, Antoniou AC, Arason A, Arndt V, Aronson KJ, Arun BK, Asseryanis E, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barnes DR, Barrowdale D, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Białkowska K, Blanco A, Blomqvist C, Boeckx B, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Brauch H, Brenner H, Briceno I, Broeks A, Brüning T, Burwinkel B, Cai Q, Caldés T, Caligo MA, Campbell I, Canisius S, Campa D, Carter BD, Carter J, Castelao JE, Chang-Claude J, Chanock SJ, Christiansen H, Chung WK, Claes KBM, Clarke CL; GEMO Study Collaborators; EMBRACE Collaborators; GC-HBOC study Collaborators, Couch FJ, Cox A, Cross SS, Cybulski C, Czene K, Daly MB, de la Hoya M, De Leeneer K, Dennis J, Devilee P, Diez O, Domchek SM, Dörk T, Dos-Santos-Silva I, Dunning AM, Dwek M, Eccles DM, Ejlertsen B, Ellberg C, Engel C, Eriksson M, Fasching PA, Fletcher O, Flyger H, Fostira F, Friedman E, Fritschi L, Frost D, Gabrielson M, Ganz PA, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hamann U, Hake C, He W, Heyworth J, Hogervorst FBL, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Huang G, Hulick PJ, Humphreys K, Imyanitov EN; ABCTB Investigators; HEBON Investigators; BCFR Investigators; OCGN Investigators, Isaacs C, Jakimovska M, Jakubowska A, James P, Janavicius R, Jankowitz RC, John EM, Johnson N, Joseph V, Jung A, Karlan BY, Khusnutdinova E, Kiiski JI, Konstantopoulou I, Kristensen VN, Laitman Y, Lambrechts D, Lazaro C, Leroux D, Leslie G, Lester J, Lesueur F, Lindor N, Lindström S, Lo WY, Loud JT, Lubiński J, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martens JWM, Martinez ME, Matricardi L, Maurer T, Mavroudis D, McGuffog L, Meindl A, Menon U, Michailidou K, Kapoor PM, Miller A, Montagna M, Moreno F, Moserle L, Mulligan AM, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Nevelsteen I, Nielsen FC, Nikitina-Zake L, Offit K, Olah E, Olopade OI, Olsson H, Osorio A, Papp J, Park-Simon TW, Parsons MT, Pedersen IS, Peixoto A, Peterlongo P, Peto J, Pharoah PDP, Phillips KA, Plaseska-Karanfilska D, Poppe B, Pradhan N, Prajzendanc K, Presneau N, Punie K, Pylkäs K, Radice P, Rantala J, Rashid MU, Rennert G, Risch HA, Robson M, Romero A, Saloustros E, Sandler DP, Santos C, Sawyer EJ, Schmidt MK, Schmidt DF, Schmutzler RK, Schoemaker MJ, Scott RJ, Sharma P, Shu XO, Simard J, Singer CF, Skytte AB, Soucy P, Southey MC, Spinelli JJ, Spurdle AB, Stone J, Swerdlow AJ, Tapper WJ, Taylor JA, Teixeira MR, Terry MB, Teulé A, Thomassen M, Thöne K, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Torres D, Truong T, Tung N, Vachon CM, van Asperen CJ, van den Ouweland AMW, van Rensburg EJ, Vega A, Viel A, Vieiro-Balo P, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Winqvist R, Yang XR, Yannoukakos D, Ziogas A, Milne RL, Easton DF, Chenevix-Trench G, Zheng W, Kraft P, Jiang X.

Genet Epidemiol. 2020 Mar 1. doi: 10.1002/gepi.22288. [Epub ahead of print]

7.

Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.

Mavaddat N, Antoniou AC, Mooij TM, Hooning MJ, Heemskerk-Gerritsen BA; GENEPSO, Noguès C, Gauthier-Villars M, Caron O, Gesta P, Pujol P, Lortholary A; EMBRACE, Barrowdale D, Frost D, Evans DG, Izatt L, Adlard J, Eeles R, Brewer C, Tischkowitz M, Henderson A, Cook J, Eccles D; HEBON, van Engelen K, Mourits MJE, Ausems MGEM, Koppert LB, Hopper JL, John EM, Chung WK, Andrulis IL, Daly MB, Buys SS; kConFab Investigators, Benitez J, Caldes T, Jakubowska A, Simard J, Singer CF, Tan Y, Olah E, Navratilova M, Foretova L, Gerdes AM, Roos-Blom MJ, Van Leeuwen FE, Arver B, Olsson H, Schmutzler RK, Engel C, Kast K, Phillips KA, Terry MB, Milne RL, Goldgar DE, Rookus MA, Andrieu N, Easton DF; IBCCS, kConFab and BCFR.

Breast Cancer Res. 2020 Feb 26;22(1):25. doi: 10.1186/s13058-020-01259-w.

8.

Abnormal Auditory Mismatch Fields in Children and Adolescents With 16p11.2 Deletion and 16p11.2 Duplication.

Matsuzaki J, Berman JI, Blaskey L, Kuschner ES, Gaetz L, Mukherjee P, Buckner RL, Nagarajan SS, Chung WK, Sherr EH, Roberts TPL; Simons VIP Consortium.

Biol Psychiatry Cogn Neurosci Neuroimaging. 2019 Nov 26. pii: S2451-9022(19)30302-7. doi: 10.1016/j.bpsc.2019.11.005. [Epub ahead of print]

PMID:
32033921
9.

De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M, Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A, Héron D, Heide S, Nava C, Depienne C, Larson A, Niyazov D, Azage M, Hoganson G, Burton J, Rush ET, Jenkins JL, Saunders CJ, Thiffault I, Alaimo JT, Fleischer J, Groepper D, Gripp KW, Chung WK.

Am J Med Genet A. 2020 Feb 7. doi: 10.1002/ajmg.a.61505. [Epub ahead of print]

PMID:
32031333
10.

Developing effective and efficient genomic educational tools for our diverse population.

Wynn J, Chung WK.

Ann Transl Med. 2019 Dec;7(Suppl 8):S304. doi: 10.21037/atm.2019.10.98. No abstract available.

11.

Genetics and Other Omics in Pediatric Pulmonary Arterial Hypertension.

Welch CL, Chung WK.

Chest. 2020 Jan 30. pii: S0012-3692(20)30136-7. doi: 10.1016/j.chest.2020.01.013. [Epub ahead of print] Review.

PMID:
32006592
12.

Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers.

Mavaddat N, Antoniou AC, Mooij TM, Hooning MJ, Heemskerk-Gerritsen BA; GENEPSO, Noguès C, Gauthier-Villars M, Caron O, Gesta P, Pujol P, Lortholary A; EMBRACE, Barrowdale D, Frost D, Evans DG, Izatt L, Adlard J, Eeles R, Brewer C, Tischkowitz M, Henderson A, Cook J, Eccles D; HEBON, van Engelen K, Mourits MJE, Ausems MGEM, Koppert LB, Hopper JL, John EM, Chung WK, Andrulis IL, Daly MB, Buys SS; kConFab Investigators, Benitez J, Caldes T, Jakubowska A, Simard J, Singer CF, Tan Y, Olah E, Navratilova M, Foretova L, Gerdes AM, Roos-Blom MJ, Van Leeuwen FE, Arver B, Olsson H, Schmutzler RK, Engel C, Kast K, Phillips KA, Terry MB, Milne RL, Goldgar DE, Rookus MA, Andrieu N, Easton DF; IBCCS; kConFab; BCFR.

Breast Cancer Res. 2020 Jan 16;22(1):8. doi: 10.1186/s13058-020-1247-4. Erratum in: Breast Cancer Res. 2020 Feb 26;22(1):25.

13.

Impact of enzymatic reduction on bivalent bispecific antibody fragmentation and loss of product purity upon reoxidation.

Swope N, Chung WK, Cao M, Motabar D, Liu D, Ahuja S, Handlogten M.

Biotechnol Bioeng. 2020 Apr;117(4):1063-1071. doi: 10.1002/bit.27264. Epub 2020 Jan 23.

PMID:
31930476
14.

Intensity-modulated radiotherapy for stage I glottic cancer: a short-term outcomes compared with three-dimensional conformal radiotherapy.

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

Radiat Oncol J. 2019 Dec;37(4):271-278. doi: 10.3857/roj.2019.00283. Epub 2019 Dec 31.

15.

Genes that drive the pathobiology of pediatric pulmonary arterial hypertension.

Welch CL, Austin ED, Chung WK.

Pediatr Pulmonol. 2020 Jan 9. doi: 10.1002/ppul.24637. [Epub ahead of print] Review.

PMID:
31917901
16.

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.

Fachal L, Aschard H, Beesley J, Barnes DR, Allen J, Kar S, Pooley KA, Dennis J, Michailidou K, Turman C, Soucy P, Lemaçon A, Lush M, Tyrer JP, Ghoussaini M, Moradi Marjaneh M, Jiang X, Agata S, Aittomäki K, Alonso MR, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Aronson KJ, Arun BK, Auber B, Auer PL, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Beeghly-Fadiel A, Benitez J, Bermisheva M, Białkowska K, Blanco AM, Blomqvist C, Blot W, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Borg A, Bosse K, Brauch H, Brenner H, Briceno I, Brock IW, Brooks-Wilson A, Brüning T, Burwinkel B, Buys SS, Cai Q, Caldés T, Caligo MA, Camp NJ, Campbell I, Canzian F, Carroll JS, Carter BD, Castelao JE, Chiquette J, Christiansen H, Chung WK, Claes KBM, Clarke CL; GEMO Study Collaborators; EMBRACE Collaborators, Collée JM, Cornelissen S, Couch FJ, Cox A, Cross SS, Cybulski C, Czene K, Daly MB, de la Hoya M, Devilee P, Diez O, Ding YC, Dite GS, Domchek SM, Dörk T, Dos-Santos-Silva I, Droit A, Dubois S, Dumont M, Duran M, Durcan L, Dwek M, Eccles DM, Engel C, Eriksson M, Evans DG, Fasching PA, Fletcher O, Floris G, Flyger H, Foretova L, Foulkes WD, Friedman E, Fritschi L, Frost D, Gabrielson M, Gago-Dominguez M, Gambino G, Ganz PA, Gapstur SM, Garber J, García-Sáenz JA, Gaudet MM, Georgoulias V, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Tibiletti MG, Greene MH, Grip M, Gronwald J, Grundy A, Guénel P, Hahnen E, Haiman CA, Håkansson N, Hall P, Hamann U, Harrington PA, Hartikainen JM, Hartman M, He W, Healey CS, Heemskerk-Gerritsen BAM, Heyworth J, Hillemanns P, Hogervorst FBL, Hollestelle A, Hooning MJ, Hopper JL, Howell A, Huang G, Hulick PJ, Imyanitov EN; KConFab Investigators; HEBON Investigators; ABCTB Investigators, Isaacs C, Iwasaki M, Jager A, Jakimovska M, Jakubowska A, James PA, Janavicius R, Jankowitz RC, John EM, Johnson N, Jones ME, Jukkola-Vuorinen A, Jung A, Kaaks R, Kang D, Kapoor PM, Karlan BY, Keeman R, Kerin MJ, Khusnutdinova E, Kiiski JI, Kirk J, Kitahara CM, Ko YD, Konstantopoulou I, Kosma VM, Koutros S, Kubelka-Sabit K, Kwong A, Kyriacou K, Laitman Y, Lambrechts D, Lee E, Leslie G, Lester J, Lesueur F, Lindblom A, Lo WY, Long J, Lophatananon A, Loud JT, Lubiński J, MacInnis RJ, Maishman T, Makalic E, Mannermaa A, Manoochehri M, Manoukian S, Margolin S, Martinez ME, Matsuo K, Maurer T, Mavroudis D, Mayes R, McGuffog L, McLean C, Mebirouk N, Meindl A, Miller A, Miller N, Montagna M, Moreno F, Muir K, Mulligan AM, Muñoz-Garzon VM, Muranen TA, Narod SA, Nassir R, Nathanson KL, Neuhausen SL, Nevanlinna H, Neven P, Nielsen FC, Nikitina-Zake L, Norman A, Offit K, Olah E, Olopade OI, Olsson H, Orr N, Osorio A, Pankratz VS, Papp J, Park SK, Park-Simon TW, Parsons MT, Paul J, Pedersen IS, Peissel B, Peshkin B, Peterlongo P, Peto J, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Presneau N, Prokofyeva D, Pujana MA, Pylkäs K, Radice P, Ramus SJ, Rantala J, Rau-Murthy R, Rennert G, Risch HA, Robson M, Romero A, Rossing M, Saloustros E, Sánchez-Herrero E, Sandler DP, Santamariña M, Saunders C, Sawyer EJ, Scheuner MT, Schmidt DF, Schmutzler RK, Schneeweiss A, Schoemaker MJ, Schöttker B, Schürmann P, Scott C, Scott RJ, Senter L, Seynaeve CM, Shah M, Sharma P, Shen CY, Shu XO, Singer CF, Slavin TP, Smichkoska S, Southey MC, Spinelli JJ, Spurdle AB, Stone J, Stoppa-Lyonnet D, Sutter C, Swerdlow AJ, Tamimi RM, Tan YY, Tapper WJ, Taylor JA, Teixeira MR, Tengström M, Teo SH, Terry MB, Teulé A, Thomassen M, Thull DL, Tischkowitz M, Toland AE, Tollenaar RAEM, Tomlinson I, Torres D, Torres-Mejía G, Troester MA, Truong T, Tung N, Tzardi M, Ulmer HU, Vachon CM, van Asperen CJ, van der Kolk LE, van Rensburg EJ, Vega A, Viel A, Vijai J, Vogel MJ, Wang Q, Wappenschmidt B, Weinberg CR, Weitzel JN, Wendt C, Wildiers H, Winqvist R, Wolk A, Wu AH, Yannoukakos D, Zhang Y, Zheng W, Hunter D, Pharoah PDP, Chang-Claude J, García-Closas M, Schmidt MK, Milne RL, Kristensen VN, French JD, Edwards SL, Antoniou AC, Chenevix-Trench G, Simard J, Easton DF, Kraft P, Dunning AM.

Nat Genet. 2020 Jan;52(1):56-73. doi: 10.1038/s41588-019-0537-1. Epub 2020 Jan 7.

PMID:
31911677
17.

Treatment time to the end of thoracic radiotherapy has more predictive power for survival than radiation dose intensity in patients with limited-stage small-cell lung cancer receiving concurrent chemoradiation of more than 45 Gy.

Jeong JU, Jeon W, Ahn SJ, Kim YC, Oh IJ, Park CK, Yoon MS, Song JY, Nam TK, Chung WK.

Oncol Lett. 2020 Jan;19(1):239-246. doi: 10.3892/ol.2019.11107. Epub 2019 Nov 18.

18.

The genetics of isolated congenital heart disease.

Nees SN, Chung WK.

Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):97-106. doi: 10.1002/ajmg.c.31763. Epub 2019 Dec 26.

PMID:
31876989
19.

Accuracy of Risk Estimates from the iPrevent Breast Cancer Risk Assessment and Management Tool.

Phillips KA, Liao Y, Milne RL, MacInnis RJ, Collins IM, Buchsbaum R, Weideman PC, Bickerstaffe A, Nesci S, Chung WK, Southey MC, Knight JA, Whittemore AS, Dite GS, Goldgar D, Giles GG, Glendon G, Cuzick J, Antoniou AC, Andrulis IL, John EM, Daly MB, Buys SS, Hopper JL, Terry MB; kConFab Investigators.

JNCI Cancer Spectr. 2019 Sep 19;3(4):pkz066. doi: 10.1093/jncics/pkz066. eCollection 2019 Dec.

20.

Genetic Basis of Human Congenital Heart Disease.

Nees SN, Chung WK.

Cold Spring Harb Perspect Biol. 2019 Dec 9. pii: a036749. doi: 10.1101/cshperspect.a036749. [Epub ahead of print]

PMID:
31818857
21.

Racial and Ethnic Differences in BRCA1/2 and Multigene Panel Testing Among Young Breast Cancer Patients.

Jones T, Trivedi MS, Jiang X, Silverman T, Underhill M, Chung WK, Kukafka R, Crew KD.

J Cancer Educ. 2019 Dec 4. doi: 10.1007/s13187-019-01646-8. [Epub ahead of print]

PMID:
31802423
22.

Alcohol consumption, cigarette smoking, and familial breast cancer risk: findings from the Prospective Family Study Cohort (ProF-SC).

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

Breast Cancer Res. 2019 Nov 28;21(1):128. doi: 10.1186/s13058-019-1213-1.

23.

Proposed Dose Constraints in the Duties of Radiation Workers at the Department of Nuclear Medicine.

Chung WK, Yang NH, Dong KR, Choi J.

Radiat Prot Dosimetry. 2019 Nov 20. pii: ncz249. doi: 10.1093/rpd/ncz249. [Epub ahead of print]

PMID:
31746341
24.

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.

25.

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.

26.

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

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

Autism Res. 2020 Feb;13(2):187-198. doi: 10.1002/aur.2232. Epub 2019 Nov 14.

PMID:
31724820
27.

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, Puppa LD, 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, Lazaro 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, Gomes DM, Montagna M, Mooij TM, Moserle L, Mouret-Fourme E, Mulligan AM, Nathanson KL, Navratilova M, Nevanlinna H, Niederacher D, Nielsen FCC, 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, Petersen AH, 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, Vierstrate 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. 2020 Feb 1;80(3):624-638. doi: 10.1158/0008-5472.CAN-19-1840. Epub 2019 Nov 13.

PMID:
31723001
28.

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.

29.

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. 2020 Jan;55(1):33-38. doi: 10.1016/j.jpedsurg.2019.09.046. Epub 2019 Oct 26.

PMID:
31677822
30.

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. 2020 Feb;49:41-47. doi: 10.1016/j.breast.2019.10.007. Epub 2019 Oct 22.

31.

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
32.

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.

33.

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

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

Genet Med. 2020 Mar;22(3):633-639. doi: 10.1038/s41436-019-0679-7. Epub 2019 Oct 15.

PMID:
31616070
34.

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.

35.

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
36.

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.

37.

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
38.

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
39.

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, Investigators K, Andrulis IL, Buys SS, Daly MB, Hopper JL, Terry MB.

Cancer Res. 2020 Jan 1;80(1):116-125. doi: 10.1158/0008-5472.CAN-19-1847. Epub 2019 Oct 2.

PMID:
31578201
40.

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 Dec;138(11-12):1259-1266. doi: 10.1007/s00439-019-02065-x. Epub 2019 Sep 25.

PMID:
31555905
41.

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. 2020 Jan;103(1):127-135. doi: 10.1016/j.pec.2019.08.018. Epub 2019 Aug 24.

PMID:
31521424
42.

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.

43.

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.

44.

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. 2020 Feb;13(1):69-76. doi: 10.21053/ceo.2019.00388. Epub 2019 Sep 5.

45.

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.

46.

The influence of genetics in congenital diaphragmatic hernia.

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

Semin Perinatol. 2020 Feb;44(1):151169. doi: 10.1053/j.semperi.2019.07.008. Epub 2019 Aug 1. Review.

PMID:
31443905
47.

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. 2020 Jan;65(1):73-83. doi: 10.1111/1556-4029.14146. Epub 2019 Aug 9.

PMID:
31397890
48.

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 Dec 13;5(6). pii: a003715. doi: 10.1101/mcs.a003715. Print 2019 Dec.

49.

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
50.

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.

Supplemental Content

Loading ...
Support Center