Omar Abdul-Rahman
Omar Abdul-Rahman
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Updated clinical guidelines for diagnosing fetal alcohol spectrum disorders
HE Hoyme, WO Kalberg, AJ Elliott, J Blankenship, D Buckley, AS Marais, ...
Pediatrics 138 (2), 2016
Prevalence of fetal alcohol spectrum disorders in 4 US communities
PA May, CD Chambers, WO Kalberg, J Zellner, H Feldman, D Buckley, ...
Jama 319 (5), 474-482, 2018
Prevalence and characteristics of fetal alcohol spectrum disorders
PA May, A Baete, J Russo, AJ Elliott, J Blankenship, WO Kalberg, ...
Pediatrics 134 (5), 855-866, 2014
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ...
Nature genetics 49 (1), 36-45, 2017
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome
JB Rivière, BWM Van Bon, A Hoischen, SS Kholmanskikh, BJ O'Roak, ...
Nature genetics 44 (4), 440-444, 2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
JKJ Van Houdt, BA Nowakowska, SB Sousa, BDC Van Schaik, ...
Nature genetics 44 (4), 445-449, 2012
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
AJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel, MA Gonzalez, ...
Nature genetics 47 (8), 926-932, 2015
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
JM van de Kamp, OT Betsalel, S Mercimek-Mahmutoglu, L Abulhoul, ...
Journal of medical genetics 50 (7), 463-472, 2013
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21. 31 microdeletion versus a KANSL1 sequence variant
DA Koolen, R Pfundt, K Linda, G Beunders, HE Veenstra-Knol, JH Conta, ...
European Journal of Human Genetics 24 (5), 652-659, 2016
22q11. 2 deletion syndrome in diverse populations
P Kruszka, YA Addissie, DE McGinn, AR Porras, E Biggs, M Share, ...
American Journal of Medical Genetics Part A 173 (4), 879-888, 2017
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome
PM Campeau, JC Kim, JT Lu, JA Schwartzentruber, OA Abdul-Rahman, ...
The American Journal of Human Genetics 90 (2), 282-289, 2012
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome
LM Reis, RC Tyler, KF Schilter, O Abdul-Rahman, JW Innis, BA Kozel, ...
Human genetics 130, 495-504, 2011
7q11. 23 Duplication syndrome: Physical characteristics and natural history
CA Morris, CB Mervis, AP Paciorkowski, O Abdul‐Rahman, SL Dugan, ...
American journal of medical genetics Part A 167 (12), 2916-2935, 2015
Down syndrome in diverse populations
P Kruszka, AR Porras, AK Sobering, FA Ikolo, S La Qua, V Shotelersuk, ...
American Journal of Medical Genetics Part A 173 (1), 42-53, 2017
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency
CW Carr, D Moreno-De-Luca, C Parker, HH Zimmerman, N Ledbetter, ...
European Journal of Human Genetics 18 (11), 1216-1220, 2010
Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease: a randomized clinical trial
ID Krantz, L Medne, JM Weatherly, KT Wild, S Biswas, B Devkota, ...
JAMA pediatrics 175 (12), 1218-1226, 2021
FOXP1 mutations cause intellectual disability and a recognizable phenotype
AK Le Fevre, S Taylor, NH Malek, D Horn, CW Carr, OA Abdul‐Rahman, ...
American journal of medical genetics Part A 161 (12), 3166-3175, 2013
Noonan syndrome in diverse populations
P Kruszka, AR Porras, YA Addissie, A Moresco, S Medrano, GTK Mok, ...
American Journal of Medical Genetics Part A 173 (9), 2323-2334, 2017
Nicolaides–Baraitser syndrome: delineation of the phenotype
SB Sousa, OA Abdul‐Rahman, A Bottani, V Cormier‐Daire, A Fryer, ...
American Journal of Medical Genetics Part A 149 (8), 1628-1640, 2009
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7
R Reddy, E Akoury, NM Phuong Nguyen, OA Abdul-Rahman, C Dery, ...
European Journal of Human Genetics 21 (9), 957-964, 2013
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