Abdul-Rahman, Omar

Publications

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selected publications

An examination of child outcomes and predictors of severity when prenatal alcohol exposure is frequent and heavy. Alcohol, clinical & experimental research. 2026 Academic Article GET IT
Diagnosis across the fetal alcohol spectrum disorders (FASD) continuum. Current problems in pediatric and adolescent health care. 2026 Information Resource GET IT
Times cited: 2
Utility of facial imaging and machine learning in the evaluation of fetal alcohol spectrum disorders. Current problems in pediatric and adolescent health care. 2026 Information Resource GET IT
Times cited: 1
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. American journal of human genetics. 2025 Article GET IT
Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene. American journal of medical genetics. Part A. 2025 Academic Article GET IT
Times cited: 1
Maternal and paternal risk factors associated with diagnoses within the continuum of fetal alcohol spectrum disorders in the USA: Proximal and distal influences. Alcohol, clinical & experimental research. 2024 Academic Article GET IT
Times cited: 1
Considering screening for hereditary cancer syndromes at the time of obstetrical prenatal carrier screening. Cancer. 2024 Academic Article GET IT
Times cited: 3
Maternal risk factors for fetal alcohol spectrum disorders: Distal variables. Alcohol, clinical & experimental research. 2024 Academic Article GET IT
Times cited: 10
Maternal and paternal risk factors for fetal alcohol spectrum disorders: Alcohol and other drug use as proximal influences. Alcohol, clinical & experimental research. 2023 Academic Article GET IT
Times cited: 14
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. American journal of medical genetics. Part A. 2023 Academic Article GET IT
Times cited: 36
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder. American journal of human genetics. 2023 Academic Article GET IT
Times cited: 22
The prevalence of fetal alcohol spectrum disorders in rural communities in South Africa: A third regional sample of child characteristics and maternal risk factors. Alcoholism, clinical and experimental research. 2022 Academic Article GET IT
Times cited: 25
Evaluating a general pediatric/adult genetic counseling clinic in a Midwest medical center. Journal of genetic counseling. 2022 Academic Article GET IT
Times cited: 7
Characteristic physical traits of first-grade children in the United States with fetal alcohol spectrum disorders (FASD) and associated alcohol and drug exposures. American journal of medical genetics. Part A. 2022 Academic Article GET IT
Times cited: 10
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial. JAMA pediatrics. 2021 Academic Article GET IT
Times cited: 151
Fetal alcohol spectrum disorders: current state of diagnosis and treatment. Current opinion in pediatrics. 2021 Information Resource GET IT
Times cited: 14
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. Human genetics. 2021 Academic Article GET IT
Times cited: 27
Estimating the community prevalence, child traits, and maternal risk factors of fetal alcohol spectrum disorders (FASD) from a random sample of school children. Drug and alcohol dependence. 2021 Academic Article GET IT
Times cited: 37
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. American journal of medical genetics. Part A. 2021 Academic Article GET IT
Times cited: 59
Rubinstein-Taybi syndrome in diverse populations. American journal of medical genetics. Part A. 2020 Academic Article GET IT
Times cited: 23
Ocular measurements in fetal alcohol spectrum disorders. American journal of medical genetics. Part A. 2020 Academic Article GET IT
Times cited: 12
Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning. American journal of medical genetics. Part A. 2020 Academic Article GET IT
Times cited: 7
Fetal Alcohol Spectrum Disorders in a Midwestern City: Child Characteristics, Maternal Risk Traits, and Prevalence. Alcoholism, clinical and experimental research. 2020 Academic Article GET IT
Times cited: 41
Fetal Alcohol Spectrum Disorders in a Rocky Mountain Region City: Child Characteristics, Maternal Risk Traits, and Prevalence. Alcoholism, clinical and experimental research. 2020 Academic Article GET IT
Times cited: 45
Fetal Alcohol Spectrum Disorders in a Southeastern County of the United States: Child Characteristics and Maternal Risk Traits. Alcoholism, clinical and experimental research. 2020 Academic Article GET IT
Times cited: 34
Novel variants in CDH2 are associated with a new syndrome including Peters anomaly. Clinical genetics. 2019 Academic Article GET IT
Times cited: 19
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human mutation. 2019 Academic Article GET IT
Times cited: 36
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome. BMC medical genomics. 2019 Academic Article GET IT
Times cited: 32
Olaparib induces browning of in vitro cultures of human primary white adipocytes. Biochemical pharmacology. 2019 Academic Article GET IT
Times cited: 18
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability. Human molecular genetics. 2019 Academic Article GET IT
Times cited: 26
Association of purinergic receptor P2RX7 gene polymorphisms with depression symptoms. Progress in neuro-psychopharmacology & biological psychiatry. 2019 Academic Article GET IT
Times cited: 33
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease. Genetics in medicine : official journal of the American College of Medical Genetics. 2018 Academic Article GET IT
Times cited: 30
Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities. JAMA. 2018 Academic Article GET IT
Times cited: 705
Computer-Aided Recognition of Facial Attributes for Fetal Alcohol Spectrum Disorders. Pediatrics. 2017 Academic Article GET IT
Times cited: 57
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Brain : a journal of neurology. 2017 Academic Article GET IT
Times cited: 29
Congenital Amegakaryocytic Thrombocytopenia: A Case Series Indicating 2 Founder Variants in the Mississippi Band of Choctaw Indians. Journal of pediatric hematology/oncology. 2017 Article GET IT
Times cited: 4
Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease. JCI insight. 2017 Academic Article GET IT
Times cited: 64
Noonan syndrome in diverse populations. American journal of medical genetics. Part A. 2017 Academic Article GET IT
Times cited: 79
22q11.2 deletion syndrome in diverse populations. American journal of medical genetics. Part A. 2017 Academic Article GET IT
Times cited: 122
Down syndrome in diverse populations. American journal of medical genetics. Part A. 2017 Information Resource GET IT
Times cited: 75
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nature genetics. 2016 Academic Article GET IT
Times cited: 245
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome medicine. 2016 Article GET IT
Times cited: 50
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. Molecular vision. 2016 Academic Article GET IT
Times cited: 18
Updated Clinical Guidelines for Diagnosing Fetal Alcohol Spectrum Disorders. Pediatrics. 2016 Information Resource GET IT
Times cited: 708
AMP-Activated Kinase (AMPK) Activation by AICAR in Human White Adipocytes Derived from Pericardial White Adipose Tissue Stem Cells Induces a Partial Beige-Like Phenotype. PloS one. 2016 Academic Article GET IT
Times cited: 29
Fetal alcohol spectrum disorders and assessment of maxillary and mandibular arc measurements. American journal of medical genetics. Part A. 2016 Academic Article GET IT
Times cited: 12
Combined Treatment of MCF-7 Cells with AICAR and Methotrexate, Arrests Cell Cycle and Reverses Warburg Metabolism through AMP-Activated Protein Kinase (AMPK) and FOXO1. PloS one. 2016 Academic Article GET IT
Times cited: 57
Poly(ADP-Ribose) Polymerases in Aging - Friend or Foe?. Current protein & peptide science. 2016 Information Resource GET IT
Times cited: 24
Success rates for consent and collection of prenatal biological specimens in an epidemiologic survey of child health. Birth defects research. Part A, Clinical and molecular teratology. 2015 Academic Article GET IT
Times cited: 9
7q11.23 Duplication syndrome: Physical characteristics and natural history. American journal of medical genetics. Part A. 2015 Academic Article GET IT
Times cited: 77
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. European journal of human genetics : EJHG. 2015 Academic Article GET IT
Times cited: 118
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nature genetics. 2015 Academic Article GET IT
Times cited: 181
A South African mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders. American journal of medical genetics. Part A. 2015 Academic Article GET IT
Times cited: 23
Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trials. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America. 2014 Academic Article GET IT
Times cited: 12
Prevalence and characteristics of fetal alcohol spectrum disorders. Pediatrics. 2014 Academic Article GET IT
Times cited: 492
Index of suspicion. Case 1: fever, diarrhea, jaundice, and confusion in an 18-year-old male. Case 2: severe anemia in a 6-month-old girl. Case 3: red urine in a 4-month-old boy. Pediatrics in review. 2014 Article GET IT
A new leukocyte hyperadhesion syndrome of delayed cord separation, skin infection, and nephrosis. Pediatrics. 2013 Article GET IT
Times cited: 7
FOXP1 mutations cause intellectual disability and a recognizable phenotype. American journal of medical genetics. Part A. 2013 Article GET IT
Times cited: 83
Neuromotor synapses in Escobar syndrome. American journal of medical genetics. Part A. 2013 Academic Article GET IT
Times cited: 17
Whole-genome copy number variation analysis in anophthalmia and microphthalmia. Clinical genetics. 2013 Academic Article GET IT
Times cited: 45
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. Journal of medical genetics. 2013 Academic Article GET IT
Times cited: 136
Associations between depression severity and purinergic receptor P2RX7 gene polymorphisms. Journal of affective disorders. 2013 Academic Article GET IT
Times cited: 53
Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency. The Journal of clinical endocrinology and metabolism. 2013 Academic Article GET IT
Times cited: 39
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7. European journal of human genetics : EJHG. 2012 Academic Article GET IT
Times cited: 66
Isolation and molecular characterization of type I and type II feline coronavirus in Malaysia. Virology journal. 2012 Academic Article GET IT
Times cited: 34
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks. American journal of medical genetics. Part A. 2012 Academic Article GET IT
Times cited: 48
Altered gene expression profiles in the hippocampus and prefrontal cortex of type 2 diabetic rats. BMC genomics. 2012 Academic Article GET IT
Times cited: 49
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature genetics. 2012 Academic Article GET IT
Times cited: 259
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nature genetics. 2012 Academic Article GET IT
Times cited: 217
An immunological basis of hyperphagia driven by GABAergic dysfunction in Prader-Willi Syndrome. Medical hypotheses. 2012 Academic Article GET IT
Times cited: 3
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. American journal of human genetics. 2012 Academic Article GET IT
Times cited: 122
Chromosome 22q11.2 deletion syndrome in African-American patients: a diagnostic challenge. American journal of medical genetics. Part A. 2011 Academic Article GET IT
Times cited: 23
Large contiguous gene deletions in Sjögren-Larsson syndrome. Molecular genetics and metabolism. 2011 Article GET IT
Times cited: 21
5q14.3 neurocutaneous syndrome: a novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C. American journal of medical genetics. Part A. 2011 Article GET IT
Times cited: 30
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Human genetics. 2011 Article GET IT
Times cited: 99
Autism and vaccines: search for cause amidst controversy. Journal of the Mississippi State Medical Association. 2011 Academic Article GET IT
Times cited: 2
Optic nerve enlargement in Krabbe disease: a pathophysiologic and clinical perspective. Journal of child neurology. 2011 Article GET IT
Times cited: 11
Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database. European journal of human genetics : EJHG. 2010 Article GET IT
Times cited: 19
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency. European journal of human genetics : EJHG. 2010 Article GET IT
Times cited: 68
X-linked creatine transporter deficiency presenting as a mitochondrial disorder. Journal of child neurology. 2010 Article GET IT
Times cited: 7
Nicolaides-Baraitser syndrome: Delineation of the phenotype. American journal of medical genetics. Part A. 2009 Academic Article GET IT
Times cited: 59
Hypoplastic glomerulocystic kidney disease and hepatoblastoma: a potential association not caused by mutations in hepatocyte nuclear factor 1beta. Journal of pediatric hematology/oncology. 2009 Article GET IT
Times cited: 5
Phenotypical manifestations of partial trisomy 9 and monosomy 4 in two siblings. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2008 Article GET IT
Times cited: 3
Mutation analysis of B3GALTL in Peters Plus syndrome. American journal of medical genetics. Part A. 2008 Article GET IT
Times cited: 54
Placental protein 13 (galectin-13) has decreased placental expression but increased shedding and maternal serum concentrations in patients presenting with preterm pre-eclampsia and HELLP syndrome. Virchows Archiv : an international journal of pathology. 2008 Academic Article GET IT
Times cited: 106
Van den Ende-Gupta syndrome: laryngeal abnormalities in two siblings. American journal of medical genetics. Part A. 2007 Article GET IT
Times cited: 13
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome. American journal of medical genetics. Part A. 2007 Article GET IT
Times cited: 44
Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2). Pediatrics. 2006 Article GET IT
Times cited: 24
Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. American journal of medical genetics. Part A. 2006 Article GET IT
Times cited: 15
The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders. Genetics in medicine : official journal of the American College of Medical Genetics. 2006 Academic Article GET IT
Times cited: 30
A report of three patients with an interstitial deletion of chromosome 15q24. American journal of medical genetics. Part A. 2005 Information Resource GET IT
Times cited: 33
Cryptococcal sepsis diagnosed by bone marrow examination. Journal of pediatric hematology/oncology. 2004 Article GET IT
Times cited: 2

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Background

education and training

M.D., University of Mississippi School of Medicine 2000
B.S., Millsaps College 1996

Contact

full name

Omar Abdul-Rahman

primary email

oma4009@med.cornell.edu

webpage

Clinical Profile

VIVO Weill Cornell Medical College

Omar Abdul-Rahman Professor of Pediatrics

Publications

selected publications

Background

education and training

Contact

full name

primary email

webpage

Phone

Publications

selected publications

Background

education and training

Contact

full name

primary email

webpage