关注
Rizwan Hamid
标题
引用次数
引用次数
年份
A copy number variation morbidity map of developmental delay
GM Cooper, BP Coe, S Girirajan, JA Rosenfeld, TH Vu, C Baker, ...
Nature genetics 43 (9), 838-846, 2011
14442011
Comprehensive evaluation of the child with intellectual disability or global developmental delays
JB Moeschler, M Shevell, Committee on Genetics, JB Moeschler, ...
Pediatrics 134 (3), e903-e918, 2014
6242014
Effect of genetic diagnosis on patients with previously undiagnosed disease
K Splinter, DR Adams, CA Bacino, HJ Bellen, JA Bernstein, ...
New England Journal of Medicine 379 (22), 2131-2139, 2018
3312018
Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females
ED Austin, JD Cogan, JD West, LK Hedges, R Hamid, EP Dawson, ...
European Respiratory Journal 34 (5), 1093-1099, 2009
2782009
Longitudinal analysis casts doubt on the presence of genetic anticipation in heritable pulmonary arterial hypertension
EK Larkin, JH Newman, ED Austin, AR Hemnes, L Wheeler, IM Robbins, ...
American journal of respiratory and critical care medicine 186 (9), 892-896, 2012
2422012
Fatty acid metabolic defects and right ventricular lipotoxicity in human pulmonary arterial hypertension
EL Brittain, M Talati, JP Fessel, H Zhu, N Penner, MW Calcutt, JD West, ...
Circulation 133 (20), 1936-1944, 2016
2092016
Patient-specific iPSC-derived endothelial cells uncover pathways that protect against pulmonary hypertension in BMPR2 mutation carriers
M Gu, NY Shao, S Sa, D Li, V Termglinchan, M Ameen, I Karakikes, ...
Cell stem cell 20 (4), 490-504. e5, 2017
2042017
Health supervision for children with neurofibromatosis type 1
DT Miller, D Freedenberg, E Schorry, NJ Ullrich, D Viskochil, BR Korf, ...
Pediatrics 143 (5), 2019
2022019
Phenotype risk scores identify patients with unrecognized Mendelian disease patterns
L Bastarache, JJ Hughey, S Hebbring, J Marlo, W Zhao, WT Ho, ...
Science 359 (6381), 1233-1239, 2018
1982018
MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome
J Wang, R Al-Ouran, Y Hu, SY Kim, YW Wan, MF Wangler, S Yamamoto, ...
The American Journal of Human Genetics 100 (6), 843-853, 2017
1832017
The undiagnosed diseases network: accelerating discovery about health and disease
RB Ramoni, JJ Mulvihill, DR Adams, P Allard, EA Ashley, JA Bernstein, ...
The American Journal of Human Genetics 100 (2), 185-192, 2017
1602017
Metabolomic analysis of bone morphogenetic protein receptor type 2 mutations in human pulmonary endothelium reveals widespread metabolic reprogramming
JP Fessel, R Hamid, BM Wittmann, LJ Robinson, T Blackwell, Y Tada, ...
Pulmonary circulation 2 (2), 201-213, 2012
1402012
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele
R Hamid, JD Cogan, LK Hedges, E Austin, JA Phillips III, JH Newman, ...
Human mutation 30 (4), 649-654, 2009
1362009
BMPR2 expression is suppressed by signaling through the estrogen receptor
ED Austin, R Hamid, AR Hemnes, JE Loyd, T Blackwell, C Yu, ...
Biology of sex differences 3, 1-11, 2012
1312012
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease
N Zhu, CL Welch, J Wang, PM Allen, C Gonzaga-Jauregui, L Ma, AK King, ...
Genome medicine 10, 1-11, 2018
1282018
Exome sequencing in children with pulmonary arterial hypertension demonstrates differences compared with adults
N Zhu, C Gonzaga-Jauregui, CL Welch, L Ma, H Qi, AK King, U Krishnan, ...
Circulation: Genomic and Precision Medicine 11 (4), e001887, 2018
1252018
Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension
ED Austin, JA Phillips, JD Cogan, R Hamid, C Yu, KC Stanton, CA Phillips, ...
Respiratory research 10, 1-9, 2009
1172009
A syndromic neurodevelopmental disorder caused by de novo variants in EBF3
HT Chao, M Davids, E Burke, JG Pappas, JA Rosenfeld, AJ McCarty, ...
The American Journal of Human Genetics 100 (1), 128-137, 2017
1162017
Serum endostatin is a genetically determined predictor of survival in pulmonary arterial hypertension
R Damico, TM Kolb, L Valera, L Wang, T Housten, RJ Tedford, DA Kass, ...
American journal of respiratory and critical care medicine 191 (2), 208-218, 2015
1142015
IRF2BPL is associated with neurological phenotypes
PC Marcogliese, V Shashi, RC Spillmann, N Stong, JA Rosenfeld, ...
The American Journal of Human Genetics 103 (2), 245-260, 2018
982018
系统目前无法执行此操作,请稍后再试。
文章 1–20