FOXP1 mutations cause intellectual disability and a recognizable phenotype
Le Fevre, Anna K., Taylor, Sharelle, Malek, Neva H., Horn, Denise, Carr, Christopher W., Abdul-Rahman, Omar A., O'Donnell, Sherindan, Burgess, Trent, Shaw, Marie, Gecz, Jozef, Bain, Nicole, Fagan, Kerry, Hunter, Matthew F.
Published in American journal of medical genetics. Part A (01.12.2013)
Published in American journal of medical genetics. Part A (01.12.2013)
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Journal Article
Computer-Aided Recognition of Facial Attributes for Fetal Alcohol Spectrum Disorders
Valentine, Matthew, Bihm, Dustin C J, Wolf, Lior, Hoyme, H Eugene, May, Philip A, Buckley, David, Kalberg, Wendy, Abdul-Rahman, Omar A
Published in Pediatrics (Evanston) (01.12.2017)
Published in Pediatrics (Evanston) (01.12.2017)
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Ocular measurements in fetal alcohol spectrum disorders
Gomez, Diego A., May, Philip A., Tabachnick, Barbara G., Hasken, Julie M., Lyden, Elizabeth R., Kalberg, Wendy O., Hoyme, H. Eugene, Manning, Melanie A., Adam, Margaret P., Robinson, Luther K., Jones, Kenneth Lyons, Buckley, David, Abdul‐Rahman, Omar A.
Published in American journal of medical genetics. Part A (01.10.2020)
Published in American journal of medical genetics. Part A (01.10.2020)
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Journal Article
Success rates for consent and collection of prenatal biological specimens in an epidemiologic survey of child health
Abdul-Rahman, Omar A, Rodriguez, Beatriz, Wadlinger, Sandra R, Slutsman, Julia, Boyle, Elizabeth B, Merrill, Lori S, Botkin, Jeffrey, Moye, Jr, Jack
Published in Birth defects research. A Clinical and molecular teratology (01.01.2016)
Published in Birth defects research. A Clinical and molecular teratology (01.01.2016)
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Journal Article
Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization
Wang, Haicui, Salter, Claire G, Refai, Osama, Hardy, Holly, Barwick, Katy E S, Akpulat, Ugur, Kvarnung, Malin, Chioza, Barry A, Harlalka, Gaurav, Taylan, Fulya, Sejersen, Thomas, Wright, Jane, Zimmerman, Holly H, Karakaya, Mert, Stüve, Burkhardt, Weis, Joachim, Schara, Ulrike, Russell, Mark A, Abdul-Rahman, Omar A, Chilton, John, Blakely, Randy D, Baple, Emma L, Cirak, Sebahattin, Crosby, Andrew H
Published in Brain (London, England : 1878) (01.11.2017)
Published in Brain (London, England : 1878) (01.11.2017)
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Journal Article
Neuromotor synapses in Escobar syndrome
Robinson, Karyn G., Viereck, Matthew J., Margiotta, Megan V., Gripp, Karen W., Abdul-Rahman, Omar A., Akins, Robert E.
Published in American journal of medical genetics. Part A (01.12.2013)
Published in American journal of medical genetics. Part A (01.12.2013)
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Journal Article
5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C
Carr, Christopher W., Zimmerman, Holly H., Martin, Christa Lese, Vikkula, Miikka, Byrd, Adam C., Abdul-Rahman, Omar A.
Published in American journal of medical genetics. Part A (01.07.2011)
Published in American journal of medical genetics. Part A (01.07.2011)
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Journal Article
Prenatal Diagnosis of Congenital Adrenal Hyperplasia Caused by P450 Oxidoreductase Deficiency
Reisch, Nicole, Idkowiak, Jan, Hughes, Beverly A, Ivison, Hannah E, Abdul-Rahman, Omar A, Hendon, Laura G, Olney, Ann Haskins, Nielsen, Shelly, Harrison, Rachel, Blair, Edward M, Dhir, Vivek, Krone, Nils, Shackleton, Cedric H. L, Arlt, Wiebke
Published in The journal of clinical endocrinology and metabolism (01.03.2013)
Published in The journal of clinical endocrinology and metabolism (01.03.2013)
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Journal Article
Nicolaides-Baraitser syndrome: Delineation of the phenotype
Sousa, Sérgio B., Abdul-Rahman, Omar A., Bottani, Armand, Cormier-Daire, Valérie, Fryer, Alan, Gillessen-Kaesbach, Gabriele, Horn, Denise, Josifova, Dragana, Kuechler, Alma, Lees, Melissa, MacDermot, Kay, Magee, Alex, Morice-Picard, Fanny, Rosser, Elizabeth, Sarkar, Ajoy, Shannon, Nora, Stolte-Dijkstra, Irene, Verloes, Alain, Wakeling, Emma, Wilson, Louise, Hennekam, Raoul C.M.
Published in American journal of medical genetics. Part A (01.08.2009)
Published in American journal of medical genetics. Part A (01.08.2009)
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Journal Article
A new leukocyte hyperadhesion syndrome of delayed cord separation, skin infection, and nephrosis
Simpson, Brittany N, Hogg, Nancy, Svensson, Lena M, McDowall, Alison, Daley, William, Yarbrough, Kilby, Abdul-Rahman, Omar A
Published in Pediatrics (Evanston) (01.01.2014)
Published in Pediatrics (Evanston) (01.01.2014)
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Journal Article
Chromosome 22q11.2 deletion syndrome in African-American patients: A diagnostic challenge
Veerapandiyan, Aravindhan, Abdul-Rahman, Omar A., Adam, Margaret P., Lyons, Michael J., Manning, Melanie, Coleman, Karlene, Kobrynski, Lisa, Taneja, Deeksha, Schoch, Kelly, Zimmerman, Holly H., Shashi, Vandana
Published in American journal of medical genetics. Part A (01.09.2011)
Published in American journal of medical genetics. Part A (01.09.2011)
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Journal Article
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
Longoni, Mauro, Lage, Kasper, Russell, Meaghan K., Loscertales, Maria, Abdul-Rahman, Omar A., Baynam, Gareth, Bleyl, Steven B., Brady, Paul D., Breckpot, Jeroen, Chen, Chih P., Devriendt, Koenraad, Gillessen-Kaesbach, Gabriele, Grix, Arthur W., Rope, Alan F., Shimokawa, Osamu, Strauss, Bernarda, Wieczorek, Dagmar, Zackai, Elaine H., Coletti, Caroline M., Maalouf, Faouzi I., Noonan, Kristin M., Park, Ji H., Tracy, Adam A., Lee, Charles, Donahoe, Patricia K., Pober, Barbara R.
Published in American journal of medical genetics. Part A (01.12.2012)
Published in American journal of medical genetics. Part A (01.12.2012)
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Journal Article
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
Schlaubitz, Silke, Yatsenko, Svetlana A., Smith, Laurie D., Keller, Kory L., Vissers, Lisenka E., Scott, Daryl A., Cai, Wei Wen, Reardon, William, Abdul-Rahman, Omar A., Lammer, Edward J., Lifchez, Caroline A., Magenis, Ellen, Veltman, Joris A., Stankiewicz, Pawel, Zabel, Bernhard U., Lee, Brendan
Published in American journal of medical genetics. Part A (15.05.2007)
Published in American journal of medical genetics. Part A (15.05.2007)
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Journal Article
Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7
Reddy, Ramesh, Akoury, Elie, Phuong Nguyen, Ngoc Minh, Abdul-Rahman, Omar A, Dery, Christine, Gupta, Neerja, Daley, William P, Ao, Asangla, Landolsi, Hanene, Ann Fisher, Rosemary, Touitou, Isabelle, Slim, Rima
Published in European journal of human genetics : EJHG (01.09.2013)
Published in European journal of human genetics : EJHG (01.09.2013)
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Journal Article
Genitopatellar syndrome: Expanding the phenotype and excluding mutations in LMX1B and TBX4
Abdul‐Rahman, Omar A., La, Trang H., Kwan, Andrea, Schlaubitz, Silke, Barsh, Greg S., Enns, Gregory M., Hudgins, Louanne
Published in American journal of medical genetics. Part A (15.07.2006)
Published in American journal of medical genetics. Part A (15.07.2006)
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Journal Article
Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency
CARR, Christopher W, MORENO-DE-LUCA, Daniel, PARKER, Colette, ZIMMERMAN, Holly H, LEDBETTER, Nikki, LESE MARTIN, Christa, DOBYNS, William B, ABDUL-RAHMAN, Omar A
Published in European journal of human genetics : EJHG (01.11.2010)
Published in European journal of human genetics : EJHG (01.11.2010)
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Journal Article
Congenital Amegakaryocytic Thrombocytopenia: A Case Series Indicating 2 Founder Variants in the Mississippi Band of Choctaw Indians
Newman, Laura A, Luter, Meghan A, Davis, Dereck B, Abdul-Rahman, Omar A, Johnson, Juantina M, Megason, Gail C
Published in Journal of pediatric hematology/oncology (01.10.2017)
Published in Journal of pediatric hematology/oncology (01.10.2017)
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Journal Article
Assessment of Congenital Anomalies in Infants Born to Pregnant Women Enrolled in Clinical Trials
Rasmussen, Sonja A., Hernandez-Diaz, Sonia, Abdul-Rahman, Omar A., Sahin, Leyla, Petrie, Carey R., Keppler-Noreuil, Kim M., Frey, Sharon E., Mason, Robin M., Nesin, Mirjana, Carey, John C.
Published in Clinical infectious diseases (15.12.2014)
Published in Clinical infectious diseases (15.12.2014)
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