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Mahshid  Sababi Azamian, MD, MPH, CCRP
Mahshid Sababi Azamian, MD, MPH, CCRP
在 bcm.edu 的电子邮件经过验证
标题
引用次数
引用次数
年份
COSMIC: high‐resolution cancer genetics using the catalogue of somatic mutations in cancer
SA Forbes, D Beare, N Bindal, S Bamford, S Ward, CG Cole, M Jia, C Kok, ...
Current protocols in human genetics 91 (1), 10.11. 1-10.11. 37, 2016
8862016
Use of exome sequencing for infants in intensive care units: ascertainment of severe single-gene disorders and effect on medical management
L Meng, M Pammi, A Saronwala, P Magoulas, AR Ghazi, F Vetrini, ...
JAMA pediatrics 171 (12), e173438-e173438, 2017
4262017
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
L Frésard, C Smail, NM Ferraro, NA Teran, X Li, KS Smith, D Bonner, ...
Nature medicine 25 (6), 911-919, 2019
2842019
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
Heterozygous truncating variants in POMP escape nonsense-mediated decay and cause a unique immune dysregulatory syndrome
MC Poli, F Ebstein, SK Nicholas, MM de Guzman, LR Forbes, IK Chinn, ...
The American Journal of Human Genetics 102 (6), 1126-1142, 2018
1522018
Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations
SR Lalani, P Liu, JA Rosenfeld, LB Watkin, T Chiang, MS Leduc, W Zhu, ...
The American Journal of Human Genetics 98 (2), 347-357, 2016
1272016
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
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31. 3 microdeletion syndrome
SR Lalani, J Zhang, CP Schaaf, CW Brown, P Magoulas, ACH Tsai, ...
The American Journal of Human Genetics 95 (5), 579-583, 2014
1102014
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
De novo GMNN mutations cause autosomal-dominant primordial dwarfism associated with Meier-Gorlin syndrome
LC Burrage, WL Charng, MK Eldomery, JR Willer, EE Davis, ...
The American Journal of Human Genetics 97 (6), 904-913, 2015
832015
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis
CA Deisseroth, J Birgmeier, EE Bodle, JN Kohler, DR Matalon, ...
Genetics in Medicine 21 (7), 1585-1593, 2019
822019
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
V Shashi, K Schoch, R Spillmann, H Cope, QKG Tan, N Walley, L Pena, ...
Genetics in Medicine 21 (1), 161-172, 2019
802019
Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay
K Machol, J Rousseau, S Ehresmann, T Garcia, TTM Nguyen, ...
The American Journal of Human Genetics 104 (1), 164-178, 2019
782019
Bi-allelic mutations in PKD1L1 are associated with laterality defects in humans
F Vetrini, LCA D’Alessandro, ZC Akdemir, A Braxton, MS Azamian, ...
The American Journal of Human Genetics 99 (4), 886-893, 2016
772016
Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder
M Oláhová, WH Yoon, K Thompson, S Jangam, L Fernandez, ...
The American Journal of Human Genetics 102 (3), 494-504, 2018
742018
Limitations of exome sequencing in detecting rare and undiagnosed diseases
KJ Burdick, JD Cogan, LC Rives, AK Robertson, ME Koziura, E Brokamp, ...
American Journal of Medical genetics Part A 182 (6), 1400-1406, 2020
732020
De novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial dysmorphism
MJG Sacoto, IA Tchasovnikarova, E Torti, C Forster, EH Andrew, I Anselm, ...
The American Journal of Human Genetics 107 (2), 352-363, 2020
712020
De novo truncating variants in ASXL2 are associated with a unique and recognizable clinical phenotype
V Shashi, LDM Pena, K Kim, B Burton, M Hempel, K Schoch, ...
The American Journal of Human Genetics 99 (4), 991-999, 2016
712016
Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification
ER Nicoli, MR Weston, M Hackbarth, A Becerril, A Larson, WM Zein, ...
The American Journal of Human Genetics 104 (6), 1127-1138, 2019
702019
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