Seuraa
Wendy Chung
Wendy Chung
Boston Children's Hospital, Harvard Medical School
Vahvistettu sähköpostiosoite verkkotunnuksessa cumc.columbia.edu - Kotisivu
Nimike
Viittaukset
Viittaukset
Vuosi
Strong association of de novo copy number mutations with autism
J Sebat, B Lakshmi, D Malhotra, J Troge, C Lese-Martin, T Walsh, ...
Science 316 (5823), 445-449, 2007
34342007
Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers
KB Kuchenbaecker, JL Hopper, DR Barnes, KA Phillips, TM Mooij, ...
Jama 317 (23), 2402-2416, 2017
27032017
Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons
JT Dimos, KT Rodolfa, KK Niakan, LM Weisenthal, H Mitsumoto, W Chung, ...
science 321 (5893), 1218-1221, 2008
25402008
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2. 0): a policy statement of the American College of Medical …
SS Kalia, K Adelman, SJ Bale, WK Chung, C Eng, JP Evans, GE Herman, ...
Genetics in medicine 19 (2), 249-255, 2017
16992017
Phenotypes of Mouse diabetes and Rat fatty Due to Mutations in the OB (Leptin) Receptor
SC Chua Jr, WK Chung, XS Wu-Peng, Y Zhang, SM Liu, L Tartaglia, ...
Science 271 (5251), 994-996, 1996
15021996
Clinical application of whole-exome sequencing across clinical indications
K Retterer, J Juusola, MT Cho, P Vitazka, F Millan, F Gibellini, ...
Genetics in Medicine 18 (7), 696-704, 2016
9972016
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ...
Science 347 (6229), 1436-1441, 2015
9882015
Pediatric pulmonary hypertension: guidelines from the American heart association and American thoracic society
SH Abman, G Hansmann, SL Archer, DD Ivy, I Adatia, WK Chung, ...
Circulation 132 (21), 2037-2099, 2015
9872015
De novo mutations in histone-modifying genes in congenital heart disease
S Zaidi, M Choi, H Wakimoto, L Ma, J Jiang, JD Overton, ...
Nature 498 (7453), 220-223, 2013
9552013
Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
E Mercuri, RS Finkel, F Muntoni, B Wirth, J Montes, M Main, ES Mazzone, ...
Neuromuscular disorders 28 (2), 103-115, 2018
8822018
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
J Homsy, S Zaidi, Y Shen, JS Ware, KE Samocha, KJ Karczewski, ...
Science 350 (6265), 1262-1266, 2015
7582015
Mapping the human genetic architecture of COVID-19
Writing group Writing group leaders Pathak Gita A. 6 Andrews Shea J. 7 Kanai ...
Nature 600 (7889), 472-477, 2021
7202021
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
SC Jin, J Homsy, S Zaidi, Q Lu, S Morton, SR DePalma, X Zeng, H Qi, ...
Nature genetics 49 (11), 1593-1601, 2017
7202017
Genome-wide analyses identify KIF5A as a novel ALS gene
A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri, R Chia, ...
Neuron 97 (6), 1268-1283. e6, 2018
5792018
A novel channelopathy in pulmonary arterial hypertension
L Ma, D Roman-Campos, ED Austin, M Eyries, KS Sampson, F Soubrier, ...
New England Journal of Medicine 369 (4), 351-361, 2013
5762013
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
TR Rebbeck, N Mitra, F Wan, OM Sinilnikova, S Healey, L McGuffog, ...
Jama 313 (13), 1347-1361, 2015
5492015
Observational study of spinal muscular atrophy type I and implications for clinical trials
RS Finkel, MP McDermott, P Kaufmann, BT Darras, WK Chung, ...
Neurology 83 (9), 810-817, 2014
5492014
Genetics and genomics of pulmonary arterial hypertension
RD Machado, O Eickelberg, CG Elliott, MW Geraci, M Hanaoka, JE Loyd, ...
Journal of the American College of Cardiology 54 (1_Supplement_S), S32-S42, 2009
5152009
Genetic basis for congenital heart disease: revisited: a scientific statement from the American Heart Association
ME Pierpont, M Brueckner, WK Chung, V Garg, RV Lacro, AL McGuire, ...
Circulation 138 (21), e653-e711, 2018
4902018
Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
S Srivastava, JA Love-Nichols, KA Dies, DH Ledbetter, CL Martin, ...
Genetics in Medicine 21 (11), 2413-2421, 2019
4532019
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Artikkelit 1–20