Prati
Jennifer Posey
Jennifer Posey
Potvrđena adresa e-pošte na bcm.edu
Naslov
Citirano
Citirano
Godina
Resolution of disease phenotypes resulting from multilocus genomic variation
JE Posey, T Harel, P Liu, JA Rosenfeld, RA James, ZH Coban Akdemir, ...
New England Journal of Medicine 376 (1), 21-31, 2017
7102017
Reanalysis of clinical exome sequencing data
P Liu, L Meng, EA Normand, F Xia, X Song, A Ghazi, J Rosenfeld, ...
New England Journal of Medicine 380 (25), 2478-2480, 2019
2702019
Lessons learned from additional research analyses of unsolved clinical exome cases
MK Eldomery, Z Coban-Akdemir, T Harel, JA Rosenfeld, T Gambin, ...
Genome medicine 9 (1), 26, 2017
2442017
Molecular diagnostic experience of whole-exome sequencing in adult patients
JE Posey, JA Rosenfeld, RA James, M Bainbridge, Z Niu, X Wang, S Dhar, ...
Genetics in Medicine 18 (7), 678-685, 2016
2432016
Insights into genetics, human biology and disease gleaned from family based genomic studies
JE Posey, AH O’Donnell-Luria, JX Chong, T Harel, SN Jhangiani, ...
Genetics in Medicine 21 (4), 798-812, 2019
1982019
Model organisms facilitate rare disease diagnosis and therapeutic research
MF Wangler, S Yamamoto, HT Chao, JE Posey, M Westerfield, ...
Genetics 207 (1), 9-27, 2017
1982017
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
1932017
Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes
T Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, ...
The American Journal of Human Genetics 99 (4), 831-845, 2016
1862016
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
1732017
Phenotypic expansion illuminates multilocus pathogenic variation
E Karaca, JE Posey, Z Coban Akdemir, D Pehlivan, T Harel, SN Jhangiani, ...
Genetics in Medicine 20 (12), 1528-1537, 2018
1302018
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
1212017
Genome sequencing and implications for rare disorders
JE Posey
Orphanet journal of rare diseases 14 (1), 153, 2019
1192019
Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
WL Charng, E Karaca, ZC Akdemir, T Gambin, MM Atik, S Gu, JE Posey, ...
BMC medical genomics 9 (1), 42, 2016
1162016
POGZ truncating alleles cause syndromic intellectual disability
J White, CR Beck, T Harel, JE Posey, SN Jhangiani, S Tang, KD Farwell, ...
Genome medicine 8 (1), 3, 2016
1122016
De novo missense mutations in DHX30 impair global translation and cause a neurodevelopmental disorder
D Lessel, C Schob, S Küry, MRF Reijnders, T Harel, MK Eldomery, ...
The American Journal of Human Genetics 101 (5), 716-724, 2017
1002017
The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance
D Pehlivan, Y Bayram, N Gunes, ZC Akdemir, A Shukla, T Bierhals, ...
The American Journal of Human Genetics 105 (1), 132-150, 2019
952019
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
902019
Phenotypic expansion in DDX3X – a common cause of intellectual disability in females
X Wang, JE Posey, JA Rosenfeld, CA Bacino, F Scaglia, LD Immken, ...
Annals of clinical and translational neurology 5 (10), 1277-1285, 2018
872018
Paralog studies augment gene discovery: DDX and DHX genes
I Paine, JE Posey, CM Grochowski, SN Jhangiani, S Rosenheck, ...
The American Journal of Human Genetics 105 (2), 302-316, 2019
862019
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease
PB Martin, Y Kigoshi-Tansho, RB Sher, G Ravenscroft, JE Stauffer, ...
Nature communications 11 (1), 4625, 2020
852020
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