OmarRahmanMD

PubMed

• 3 citations
  Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
  Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence, Jiwoo Kim, Wonwook Do, Benjamin Semeo, Olivia Katz, Devanshi Mehta, Nobuko...> ;American Journal of Medical Genetics. Part A. 2023 Aug 1
• 2 citations
  The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
  Dmitrijs Rots, Taryn E Jakub, Crystal Keung, Adam Jackson, Siddharth Banka, Rolph Pfundt, Bert B A de Vries, Richard H van Jaarsveld, Saskia M J Hopman, Ellen van Bins...> ;American Journal of Human Genetics. 2023 Jun 1
• 2 citations
  Evaluating a general pediatric/adult genetic counseling clinic in a Midwest medical center.
  Charlie King, Shelly Nielsen, Andrew Schmanski, Omar Abdul-Rahman, Kristen P Fishler> ;Journal of Genetic Counseling. 2022 Dec 1
• 14 citations
  The prevalence of fetal alcohol spectrum disorders in rural communities in South Africa: A third regional sample of child characteristics and maternal risk factors.
  Philip A May, Marlene M de Vries, Anna-Susan Marais, Wendy O Kalberg, David Buckley, Julie M Hasken, Omar Abdul-Rahman, Luther K Robinson, Melanie A Manning, Soraya Se...> ;Alcoholism, Clinical and Experimental Research. 2022 Oct 1
• 2 citations
  Characteristic physical traits of first-grade children in the United States with fetal alcohol spectrum disorders (FASD) and associated alcohol and drug exposures.
  Philip A May, Julie M Hasken, Melanie A Manning, Luther K Robinson, Omar Abdul-Rahman, Margaret P Adam, Tamison Jewett, Amy J Elliott, Wendy O Kalberg, David Buckley, ...> ;American Journal of Medical Genetics. Part A. 2022 Jul 1
• 1 citations
  Fetal alcohol spectrum disorders: current state of diagnosis and treatment.
  Diego A. Gomez, Omar A. Abdul-Rahman> ;Current Opinion in Pediatrics. 2021 Dec 1
• 11 citations
  TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;Human Genetics. 2021 Oct 15
• 14 citations
  Estimating the community prevalence, child traits, and maternal risk factors of fetal alcohol spectrum disorders (FASD) from a random sample of school children.
  Philip A. May, Julie M. Hasken, Stephen R. Hooper, Dixie M. Hedrick, Julia Jackson-Newsom, Chalise E. Mullis, Elizabeth Dobyns, Wendy O. Kalberg, David Buckley, Luther...> ;Drug and Alcohol Dependence. 2021 Oct 1
• 73 citations
  Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial
  Ian D. Krantz, Livija Medne, Jamila M Weatherly, K Taylor Wild, Sawona Biswas, Batsal Devkota, Tiffiney R. Hartman, Luca Brunelli, Kristen P. Fishler, Omar A. Abdul-Ra...> ;JAMA Pediatrics. 2021 Sep 27
• 34 citations
  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 Mar 30
• 6 citations
  Ocular measurements in fetal alcohol spectrum disorders.
  Diego A. Gomez, Philip A. May, Barbara G. Tabachnick, Julie M. Hasken, Elizabeth Lyden, Wendy O. Kalberg, H. Eugene Hoyme, Melanie A. Manning, Margaret P. Adam, Luther...> ;American Journal of Medical Genetics. Part A. 2020 Oct 1
• 15 citations
  Rubinstein-Taybi syndrome in diverse populations.
  Cedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, Yonit A. Addissie, Bryan Malonga, Ebenezer Badoe, Neerja Gupta, Angélica Moresco, Victoria Huckstadt, Engy...> ;American Journal of Medical Genetics. Part A. 2020 Sep 27
• 4 citations
  Differentiating molecular etiologies of Angelman syndrome through facial phenotyping using deep learning
  Diego A. Gomez, Lynne M. Bird, Nicole Fleischer, Omar A. Abdul-Rahman> ;American Journal of Medical Genetics. Part A. 2020 Jun 11
• 25 citations
  Fetal Alcohol Spectrum Disorders in a Midwestern City: Child Characteristics, Maternal Risk Traits, and Prevalence
  Philip A. May, Julie M. Hasken, Amy Baete, Jaymi Russo, Amy J. Elliott, Wendy O. Kalberg, David Buckley, Marita Brooks, Marian A. Ortega, Dixie M. Hedrick, Barbara G. ...> ;Alcoholism, Clinical and Experimental Research. 2020 Apr 15
• 12 citations
  Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.
  Linda M. Reis, Nathalie S. Houssin, Carlos A. Zamora, Omar A. Abdul-Rahman, Jennifer M. Kalish, Elaine H. Zackai, Timothy F. Plageman, Elena V. Semina> ;Clinical Genetics. 2020 Mar 1
• 19 citations
  Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
  Suzanna G.M. Frints, Friederike Hennig, Roberto Colombo, Sébastien Jacquemont, Paulien A. Terhal, Holly H. Zimmerman, David Hunt, Bryce A. Mendelsohn, Ulrike Kordaß, R...> ;Human Mutation. 2019 Dec 1
• 23 citations
  New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome
  Eric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, Michelle T. Siu, Andrei L. Turinsky, Sanaa Choufani, Sarah J. Goodman, Omar A. Abdul-Rahman, Melanie Bedford, Naghme...> ;BMC Medical Genomics. 2019 Jul 9
• 26 citations
  An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-ons...
  Zoheb B. Kazi, Ankit K. Desai, R. Bradley Troxler, David Kronn, Seymour Packman, Marta Sabbadini, William B. Rizzo, Katalin Scherer, Omar A. Abdul-Rahman, Pranoot Tanp...> ;Genetics in Medicine. 2019 Apr 1
• 16 citations
  Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability.
  Francesca Mattioli, Bertrand Isidor, Omar A. Abdul-Rahman, Andrew Gunter, Lijia Huang, Raman Kumar, Chandree Beaulieu, Jozef Gecz, Micheil Innes, Jean-Louis Mandel, Am...> ;Human Molecular Genetics. 2019 Mar 15
• 427 citations
  Prevalence of Fetal Alcohol Spectrum Disorders in 4 US Communities
  Philip A. May, Christina D. Chambers, Wendy O. Kalberg, Jennifer A. Zellner, Haruna S. Feldman, David Buckley, David Kopald, Julie M. Hasken, Ronghui Xu, Gordon Honerk...> ;JAMA. 2018 Feb 6
• 36 citations
  Computer-Aided Recognition of Facial Attributes for Fetal Alcohol Spectrum Disorders
  Matthew Valentine, Dustin C.J. Bihm, Lior Wolf, H. Eugene Hoyme, Philip A. May, David Buckley, Wendy O. Kalberg, Omar A. Abdul-Rahman> ;Pediatrics. 2017 Dec 1
• 20 citations
  Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization.
  Haicui Wang, Claire G. Salter, Osama Refai, Holly Hardy, Katy E.S. Barwick, Ugur Akpulat, Malin Kvarnung, Barry A. Chioza, Gaurav V. Harlalka, Fulya Taylan, Thomas Sej...> ;Brain. 2017 Nov 1
• 42 citations
  Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.
  Zoheb B. Kazi, Ankit K. Desai, Kathryn L. Berrier, Troxler Rb, Raymond Y. Wang, Omar A. Abdul-Rahman, Pranoot Tanpaiboon, Nancy J. Mendelsohn, Herskovitz E, David Kron...> ;JCI Insight. 2017 Aug 17
• 57 citations
  Noonan syndrome in diverse populations
  Paul Kruszka, Antonio R. Porras, Yonit A. Addissie, Angélica Moresco, Sofia Medrano, Gary T. K. Mok, Gordon K.C. Leung, Cedrik Tekendo-Ngongang, Annette Uwineza, Meow-...> ;American Journal of Medical Genetics. Part A. 2017 Jul 27
• 72 citations
  22q11.2 deletion syndrome in diverse populations.
  Paul Kruszka, Yonit A. Addissie, Daniel E. McGinn, Antonio R. Porras, Elijah Biggs, Matthew Share, T. Blaine Crowley, Brian H.Y. Chung, Gary T. K. Mok, Christopher C.Y...> ;American Journal of Medical Genetics. Part A. 2017 Apr 1
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