Omar A Abdul-Rahman, MD

  • 2219 Citations
  • 25 h-Index
20042020

Research output per year

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Research Output

  • 2219 Citations
  • 25 h-Index
  • 65 Article
  • 1 Comment/debate
2020

Fetal Alcohol Spectrum Disorders in a Midwestern City: Child Characteristics, Maternal Risk Traits, and Prevalence

May, P. A., Hasken, J. M., Baete, A., Russo, J., Elliott, A. J., Kalberg, W. O., Buckley, D., Brooks, M., Ortega, M. A., Hedrick, D. M., Tabachnick, B. G., Abdul-Rahman, O., Adam, M. P., Jewett, T., Robinson, L. K., Manning, M. A. & Hoyme, H. E., Apr 1 2020, In : Alcoholism: Clinical and Experimental Research. 44, 4, p. 919-938 20 p.

Research output: Contribution to journalArticle

1 Scopus citations

Fetal Alcohol Spectrum Disorders in a Rocky Mountain Region City: Child Characteristics, Maternal Risk Traits, and Prevalence

May, P. A., Hasken, J. M., Bozeman, R., Jones, J. V., Burns, M. K., Goodover, J., Kalberg, W. O., Buckley, D., Brooks, M., Ortega, M. A., Elliott, A. J., Hedrick, D. M., Tabachnick, B. G., Abdul-Rahman, O., Adam, M. P., Jewett, T., Robinson, L. K., Manning, M. A. & Hoyme, H. E., Apr 1 2020, In : Alcoholism: Clinical and Experimental Research. 44, 4, p. 900-918 19 p.

Research output: Contribution to journalArticle

1 Scopus citations

Fetal Alcohol Spectrum Disorders in a Southeastern County of the United States: Child Characteristics and Maternal Risk Traits

May, P. A., Hasken, J. M., Stegall, J. M., Mastro, H. A., Kalberg, W. O., Buckley, D., Brooks, M., Hedrick, D. M., Ortega, M. A., Elliott, A. J., Tabachnick, B. G., Abdul-Rahman, O., Adam, M. P., Robinson, L. K., Manning, M. A., Jewett, T. & Hoyme, H. E., Apr 1 2020, In : Alcoholism: Clinical and Experimental Research. 44, 4, p. 939-959 21 p.

Research output: Contribution to journalArticle

1 Scopus citations

Novel variants in CDH2 are associated with a new syndrome including Peters anomaly

Reis, L. M., Houssin, N. S., Zamora, C., Abdul-Rahman, O., Kalish, J. M., Zackai, E. H., Plageman, T. F. & Semina, E. V., Mar 1 2020, In : Clinical Genetics. 97, 3, p. 502-508 7 p.

Research output: Contribution to journalArticle

1 Scopus citations
2019

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

Kazi, Z. B., Desai, A. K., Troxler, R. B., Kronn, D., Packman, S., Sabbadini, M., Rizzo, W. B., Scherer, K., Abdul-Rahman, O., Tanpaiboon, P., Nampoothiri, S., Gupta, N., Feigenbaum, A., Niyazov, D. M., Sherry, L., Segel, R., McVie-Wylie, A., Sung, C., Joseph, A. M., Richards, S. & 1 others, Kishnani, P. S., Apr 1 2019, In : Genetics in Medicine. 21, 4, p. 887-895 9 p.

Research output: Contribution to journalArticle

5 Scopus citations

Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability

Mattioli, F., Isidor, B., Abdul-Rahman, O., Gunter, A., Huang, L., Kumar, R., Beaulieu, C., Gecz, J., Innes, M., Mandel, J. L. & Piton, A., 2019, In : Human Molecular Genetics. 28, 6, p. 952-960 9 p.

Research output: Contribution to journalArticle

3 Scopus citations

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

ADNP Consortium, Feb 15 2019, In : Biological Psychiatry. 85, 4, p. 287-297 11 p.

Research output: Contribution to journalArticle

27 Scopus citations

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

Frints, S. G. M., Hennig, F., Colombo, R., Jacquemont, S., Terhal, P., Zimmerman, H. H., Hunt, D., Mendelsohn, B. A., Kordaß, U., Webster, R., Sinnema, M., Abdul-Rahman, O., Suckow, V., Fernández-Jaén, A., van Roozendaal, K., Stevens, S. J. C., Macville, M. V. E., Al-Nasiry, S., van Gassen, K., Utzig, N. & 18 others, Koudijs, S. M., McGregor, L., Maas, S. M., Baralle, D., Dixit, A., Wieacker, P., Lee, M., Lee, A. S., Engle, E. C., Houge, G., Gradek, G. A., Douglas, A. G. L., Longman, C., Joss, S., Velasco, D., Hennekam, R. C., Hirata, H. & Kalscheuer, V. M., Dec 1 2019, In : Human mutation. 40, 12, p. 2270-2285 16 p.

Research output: Contribution to journalArticle

1 Scopus citations

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

Chater-Diehl, E., Ejaz, R., Cytrynbaum, C., Siu, M. T., Turinsky, A., Choufani, S., Goodman, S. J., Abdul-Rahman, O., Bedford, M., Dorrani, N., Engleman, K., Flores-Daboub, J., Genevieve, D., Mendoza-Londono, R., Meschino, W., Perrin, L., Safina, N., Townshend, S., Scherer, S. W., Anagnostou, E. & 5 others, Piton, A., Deardorff, M., Brudno, M., Chitayat, D. & Weksberg, R., Jul 9 2019, In : BMC Medical Genomics. 12, 1, 105.

Research output: Contribution to journalArticle

Open Access
2 Scopus citations
2018

Prevalence of fetal alcohol spectrum disorders in 4 US communities

May, P. A., Chambers, C. D., Kalberg, W. O., Zellner, J., Feldman, H., Buckley, D., Kopald, D., Hasken, J. M., Xu, R., Honerkamp-Smith, G., Taras, H., Manning, M. A., Robinson, L. K., Adam, M. P., Abdul-Rahman, O., Vaux, K., Jewett, T., Elliott, A. J., Kable, J. A., Akshoomoff, N. & 9 others, Falk, D., Arroyo, J. A., Hereld, D., Riley, E. P., Charness, M. E., Coles, C. D., Warren, K. R., Jones, K. L. & Hoyme, H. E., Jul 1 2018, In : Obstetrical and Gynecological Survey. 73, 7, p. 385-387 3 p.

Research output: Contribution to journalComment/debate

1 Scopus citations

Prevalence of fetal alcohol spectrum disorders in 4 US communities

May, P. A., Chambers, C. D., Kalberg, W. O., Zellner, J., Feldman, H., Buckley, D., Kopald, D., Hasken, J. M., Xu, R., Honerkamp-Smith, G., Taras, H., Manning, M. A., Robinson, L. K., Adam, M. P., Abdul-Rahman, O., Vaux, K., Jewett, T., Elliott, A. J., Kable, J. A., Akshoomoff, N. & 9 others, Daniel, F., Arroyo, J. A., Hereld, D., Riley, E. P., Charness, M. E., Coles, C. D., Warren, K. R., Jones, K. L. & Hoyme, H. E., Feb 2018, In : JAMA - Journal of the American Medical Association. 319, 5, p. 474-482 9 p.

Research output: Contribution to journalArticle

190 Scopus citations
2017

22q11.2 deletion syndrome in diverse populations

Kruszka, P., Addissie, Y. A., McGinn, D. E., Porras, A. R., Biggs, E., Share, M., Crowley, T. B., Chung, B. H. Y., Mok, G. T. K., Mak, C. C. Y., Muthukumarasamy, P., Thong, M. K., Sirisena, N. D., Dissanayake, V. H. W., Paththinige, C. S., Prabodha, L. B. L., Mishra, R., Shotelersuk, V., Ekure, E. N., Sokunbi, O. J. & 19 others, Kalu, N., Ferreira, C. R., Duncan, J. M., Patil, S. J., Jones, K. L., Kaplan, J. D., Abdul-Rahman, O. A., Uwineza, A., Mutesa, L., Moresco, A., Obregon, M. G., Richieri-Costa, A., Gil-da-Silva-Lopes, V. L., Adeyemo, A. A., Summar, M., Zackai, E. H., McDonald-McGinn, D. M., Linguraru, M. G. & Muenke, M., Apr 1 2017, In : American Journal of Medical Genetics, Part A. 173, 4, p. 879-888 10 p.

Research output: Contribution to journalArticle

Open Access
37 Scopus citations

Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization

Wang, H., Salter, C. G., Refai, O., Hardy, H., Barwick, K. E. S., Akpulat, U., Kvarnung, M., Chioza, B. A., Harlalka, G., Taylan, F., Sejersen, T., Wright, J., Zimmerman, H. H., Karakaya, M., Stüve, B., Weis, J., Schara, U., Russell, M. A., Abdul-Rahman, O. A., Chilton, J. & 4 others, Blakely, R. D., Baple, E. L., Cirak, S. & Crosby, A. H., Nov 1 2017, In : Brain. 140, 11, p. 2838-2850 13 p.

Research output: Contribution to journalArticle

8 Scopus citations

Computer-aided recognition of facial attributes for fetal alcohol spectrum disorders

Valentine, M., Bihm, D. C. J., Wolf, L., Hoyme, H. E., May, P. A., Buckley, D., Kalberg, W. & Abdul-Rahman, O. A., Dec 2017, In : Pediatrics. 140, 6, e20162028.

Research output: Contribution to journalArticle

Open Access
18 Scopus citations

Congenital Amegakaryocytic Thrombocytopenia: A Case Series Indicating 2 Founder Variants in the Mississippi Band of Choctaw Indians

Newman, L. A., Luter, M. A., Davis, D. B., Abdul-Rahman, O. A., Johnson, J. M. & Megason, G. C., 2017, In : Journal of Pediatric Hematology/Oncology. 39, 7, p. 573-575 3 p.

Research output: Contribution to journalArticle

Cover Image, Volume 173A, Number 4, April 2017

Kruszka, P., Addissie, Y. A., McGinn, D. E., Porras, A. R., Biggs, E., Share, M., Crowley, T. B., Chung, B. H. Y., Mok, G. T. K., Mak, C. C. Y., Muthukumarasamy, P., Thong, M. K., Sirisena, N. D., Dissanayake, V. H. W., Paththinige, C. S., Prabodha, L. B. L., Mishra, R., Shotelersuk, V., Ekure, E. N., Sokunbi, O. J. & 19 others, Kalu, N., Ferreira, C. R., Duncan, J. M., Patil, S. J., Jones, K. L., Kaplan, J. D., Abdul-Rahman, O. A., Uwineza, A., Mutesa, L., Moresco, A., Obregon, M. G., Richieri-Costa, A., Gil-da-Silva-Lopes, V. L., Adeyemo, A. A., Summar, M., Zackai, E. H., McDonald-McGinn, D. M., Linguraru, M. G. & Muenke, M., Apr 1 2017, In : American journal of medical genetics. Part A. 173, 4, p. i

Research output: Contribution to journalArticle

Down syndrome in diverse populations

Kruszka, P., Porras, A. R., Sobering, A. K., Ikolo, F. A., La Qua, S., Shotelersuk, V., Chung, B. H. Y., Mok, G. T. K., Uwineza, A., Mutesa, L., Moresco, A., Obregon, M. G., Sokunbi, O. J., Kalu, N., Joseph, D. A., Ikebudu, D., Ugwu, C. E., Okoromah, C. A. N., Addissie, Y. A., Pardo, K. L. & 24 others, Brough, J. J., Lee, N. C., Girisha, K. M., Patil, S. J., Ng, I. S. L., Min, B. C. W., Jamuar, S. S., Tibrewal, S., Wallang, B., Ganesh, S., Sirisena, N. D., Dissanayake, V. H. W., Paththinige, C. S., Prabodha, L. B. L., Richieri-Costa, A., Muthukumarasamy, P., Thong, M. K., Jones, K. L., Abdul-Rahman, O. A., Ekure, E. N., Adeyemo, A. A., Summar, M., Linguraru, M. G. & Muenke, M., Jan 1 2017, In : American Journal of Medical Genetics, Part A. 173, 1, p. 42-53 12 p.

Research output: Contribution to journalArticle

Open Access
27 Scopus citations

Noonan syndrome in diverse populations

Kruszka, P., Porras, A. R., Addissie, Y. A., Moresco, A., Medrano, S., Mok, G. T. K., Leung, G. K. C., Tekendo-Ngongang, C., Uwineza, A., Thong, M. K., Muthukumarasamy, P., Honey, E., Ekure, E. N., Sokunbi, O. J., Kalu, N., Jones, K. L., Kaplan, J. D., Abdul-Rahman, O. A., Vincent, L. M., Love, A. & 42 others, Belhassan, K., Ouldim, K., El Bouchikhi, I., Shukla, A., Girisha, K. M., Patil, S. J., Sirisena, N. D., Dissanayake, V. H. W., Paththinige, C. S., Mishra, R., Klein-Zighelboim, E., Gallardo Jugo, B. E., Chávez Pastor, M., Abarca-Barriga, H. H., Skinner, S. A., Prijoles, E. J., Badoe, E., Gill, A. D., Shotelersuk, V., Smpokou, P., Kisling, M. S., Ferreira, C. R., Mutesa, L., Megarbane, A., Kline, A. D., Kimball, A., Okello, E., Lwabi, P., Aliku, T., Tenywa, E., Boonchooduang, N., Tanpaiboon, P., Richieri-Costa, A., Wonkam, A., Chung, B. H. Y., Stevenson, R. E., Summar, M., Mandal, K., Phadke, S. R., Obregon, M. G., Linguraru, M. G. & Muenke, M., Sep 2017, In : American Journal of Medical Genetics, Part A. 173, 9, p. 2323-2334 12 p.

Research output: Contribution to journalArticle

30 Scopus citations

Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease

Kazi, Z. B., Desai, A. K., Berrier, K. L., Troxler, R. B., Wang, R. Y., Abdul-Rahman, O. A., Tanpaiboon, P., Mendelsohn, N. J., Herskovitz, E., Kronn, D., Inbar-Feigenberg, M., Ward-Melver, C., Polan, M., Gupta, P., Rosenberg, A. S. & Kishnani, P. S., Aug 17 2017, In : JCI insight. 2, 16

Research output: Contribution to journalArticle

Open Access
17 Scopus citations

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Redin, C., Brand, H., Collins, R. L., Kammin, T., Mitchell, E., Hodge, J. C., Hanscom, C., Pillalamarri, V., Seabra, C. M., Abbott, M. A., Abdul-Rahman, O. A., Aberg, E., Adley, R., Alcaraz-Estrada, S. L., Alkuraya, F. S., An, Y., Anderson, M. A., Antolik, C., Anyane-Yeboa, K., Atkin, J. F. & 129 others, Bartell, T., Bernstein, J. A., Beyer, E., Blumenthal, I., Bongers, E. M. H. F., Brilstra, E. H., Brown, C. W., Brüggenwirth, H. T., Callewaert, B., Chiang, C., Corning, K., Cox, H., Cuppen, E., Currall, B. B., Cushing, T., David, D., Deardorff, M. A., Dheedene, A., D'Hooghe, M., De Vries, B. B. A., Earl, D. L., Ferguson, H. L., Fisher, H., FitzPatrick, D. R., Gerrol, P., Giachino, D., Glessner, J. T., Gliem, T., Grady, M., Graham, B. H., Griffis, C., Gripp, K. W., Gropman, A. L., Hanson-Kahn, A., Harris, D. J., Hayden, M. A., Hill, R., Hochstenbach, R., Hoffman, J. D., Hopkin, R. J., Hubshman, M. W., Innes, A. M., Irons, M., Irving, M., Jacobsen, J. C., Janssens, S., Jewett, T., Johnson, J. P., Jongmans, M. C., Kahler, S. G., Koolen, D. A., Korzelius, J., Kroisel, P. M., Lacassie, Y., Lawless, W., Lemyre, E., Leppig, K., Levin, A. V., Li, H., Li, H., Liao, E. C., Lim, C., Lose, E. J., Lucente, D., MacEra, M. J., Manavalan, P., Mandrile, G., Marcelis, C. L., Margolin, L., Mason, T., Masser-Frye, D., McClellan, M. W., Zepeda Mendoza, C. J., Menten, B., Middelkamp, S., Mikami, L. R., Moe, E., Mohammed, S., Mononen, T., Mortenson, M. E., Moya, G., Nieuwint, A. W., Ordulu, Z., Parkash, S., Pauker, S. P., Pereira, S., Perrin, D., Phelan, K., Piña Aguilar, R. E., Poddighe, P. J., Pregno, G., Raskin, S., Reis, L., Rhead, W., Rita, D., Renkens, I., Roelens, F., Ruliera, J., Rump, P., Schilit, S. L. P., Shaheen, R., Sparkes, R., Spiegel, E., Stevens, B., Stone, M. R., Tagoe, J., Thakuria, J. V., Van Bon, B. W., Van De Kamp, J., Van Der Burgt, I., Van Essen, T., Van Ravenswaaij-Arts, C. M., Van Roosmalen, M. J., Vergult, S., Volker-Touw, C. M. L., Warburton, D. P., Waterman, M. J., Wiley, S., Wilson, A., Yerena-De Vega, M. D. L. C. A., Zori, R. T., Levy, B., Brunner, H. G., De Leeuw, N., Kloosterman, W. P., Thorland, E. C., Morton, C. C., Gusella, J. F. & Talkowski, M. E., Jan 1 2017, In : Nature Genetics. 49, 1, p. 36-45 10 p.

Research output: Contribution to journalArticle

90 Scopus citations
2016

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes

Reis, L. M., Tyler, R. C., Weh, E., Hendee, K. E., Kariminejad, A., Abdul-Rahman, O., Ben-Omran, T., Manning, M. A., Yesilyurt, A., McCarty, C. A., Kitchner, T. E., Costakos, D. & Semina, E. V., Oct 17 2016, In : Molecular Vision. 22, p. 1229-1238 10 p.

Research output: Contribution to journalArticle

1 Scopus citations

Fetal alcohol spectrum disorders and assessment of maxillary and mandibular arc measurements

Abell, K., May, W., May, P. A., Kalberg, W., Hoyme, H. E., Robinson, L. K., Manning, M., Jones, K. L. & Abdul-Rahman, O., Jul 1 2016, In : American Journal of Medical Genetics, Part A. 170, 7, p. 1763-1771 9 p.

Research output: Contribution to journalArticle

2 Scopus citations

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death

Eldomery, M. K., Akdemir, Z. C., Vögtle, F. N., Charng, W. L., Mulica, P., Rosenfeld, J. A., Gambin, T., Gu, S., Burrage, L. C., Al Shamsi, A., Penney, S., Jhangiani, S. N., Zimmerman, H. H., Muzny, D. M., Wang, X., Tang, J., Medikonda, R., Ramachandran, P. V., Wong, L. J., Boerwinkle, E. & 12 others, Gibbs, R. A., Eng, C. M., Lalani, S. R., Hertecant, J., Rodenburg, R. J., Abdul-Rahman, O. A., Yang, Y., Xia, F., Wang, M. C., Lupski, J. R., Meisinger, C. & Sutton, V. R., Nov 1 2016, In : Genome Medicine. 8, 1, 106.

Research output: Contribution to journalArticle

12 Scopus citations

Success rates for consent and collection of prenatal biological specimens in an epidemiologic survey of child health

Abdul-Rahman, O. A., Rodriguez, B., Wadlinger, S. R., Slutsman, J., Boyle, E. B., Merrill, L. S., Botkin, J. & Moye, J., Jan 1 2016, In : Birth Defects Research Part A - Clinical and Molecular Teratology. 106, 1, p. 47-54 8 p.

Research output: Contribution to journalArticle

3 Scopus citations

The Koolen-de Vries syndrome: A phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant

Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, E. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., Chung, W. K., Dalton, M., Dimova, P. S., Mattina, T., Prescott, K., Zhang, H. Z., Saal, H. M., Hehir-Kwa, J. Y. & 29 others, Willemsen, M. H., Ockeloen, C. W., Jongmans, M. C., Van Der Aa, N., Failla, P., Barone, C., Avola, E., Brooks, A. S., Kant, S. G., Gerkes, E. H., Firth, H. V., Unap, K., Bird, L. M., Masser-Frye, D., Friedman, J. R., Sokunbi, M. A., Dixit, A., Splitt, M., Kukolich, M. K., McGaughran, J., Coe, B. P., Flórez, J., Nadif Kasr, N., Brunner, H. G., Thompson, E. M., Gecz, J., Romano, C., Eichler, E. E. & De Vries, B. B. A., May 1 2016, In : European Journal of Human Genetics. 24, 5, p. 652-659 8 p.

Research output: Contribution to journalArticle

Open Access
30 Scopus citations

Updated clinical guidelines for diagnosing fetal alcohol spectrum disorders

Hoyme, H. E., Kalberg, W. O., Elliott, A. J., Blankenship, J., Buckley, D., Marais, A. S., Manning, M. A., Robinson, L. K., Adam, M. P., Abdul-Rahman, O., Jewett, T., Coles, C. D., Chambers, C., Jones, K. L., Adnams, C. M., Shah, P. E., Riley, E. P., Charness, M. E., Warren, K. R. & May, P. A., Aug 2016, In : Pediatrics. 138, 2, e20154256.

Research output: Contribution to journalArticle

181 Scopus citations
2015

7q11.23 Duplication syndrome: Physical characteristics and natural history

Morris, C. A., Mervis, C. B., Paciorkowski, A. P., Abdul-Rahman, O., Dugan, S. L., Rope, A. F., Bader, P., Hendon, L. G., Velleman, S. L., Klein-Tasman, B. P. & Osborne, L. R., Dec 1 2015, In : American Journal of Medical Genetics, Part A. 167, 12, p. 2916-2935 20 p.

Research output: Contribution to journalArticle

29 Scopus citations

A South African mixed race lip/philtrum guide for diagnosis of fetal alcohol spectrum disorders

Hoyme, H. E., Hoyme, D. B., Elliott, A. J., Blankenship, J., Kalberg, W. O., Buckley, D., Abdul-Rahman, O., Adam, M. P., Robinson, L. K., Manning, M., Bezuidenhout, H., Jones, K. L. & May, P. A., Apr 1 2015, In : American Journal of Medical Genetics, Part A. 167, 4, p. 752-755 4 p.

Research output: Contribution to journalArticle

10 Scopus citations

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: Broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients

Zollino, M., Marangi, G., Ponzi, E., Orteschi, D., Ricciardi, S., Lattante, S., Murdolo, M., Battaglia, D., Contaldo, I., Mercuri, E., Stefanini, M. C., Caumes, R., Edery, P., Rossi, M., Piccione, M., Corsello, G., Monica, M. D., Scarano, F., Priolo, M., Gentile, M. & 10 others, Zampino, G., Vijzelaar, R., Abdulrahman, O., Rauch, A., Oneda, B., Deardorff, M. A., Saitta, S. C., Falk, M. J., Dubbs, H. & Zackai, E., 2015, In : Journal of medical genetics. 52, 12, p. 804-814 11 p.

Research output: Contribution to journalArticle

16 Scopus citations

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

Abrams, A. J., Hufnagel, R. B., Rebelo, A., Zanna, C., Patel, N., Gonzalez, M. A., Campeanu, I. J., Griffin, L. B., Groenewald, S., Strickland, A. V., Tao, F., Speziani, F., Abreu, L., Schüle, R., Caporali, L., La Morgia, C., Maresca, A., Liguori, R., Lodi, R., Ahmed, Z. M. & 20 others, Sund, K. L., Wang, X., Krueger, L. A., Peng, Y., Prada, C. E., Prows, C. A., Schorry, E. K., Antonellis, A., Zimmerman, H. H., Abdul-Rahman, O. A., Yang, Y., Downes, S. M., Prince, J., Fontanesi, F., Barrientos, A., Németh, A. H., Carelli, V., Huang, T., Zuchner, S. & Dallman, J. E., Aug 30 2015, In : Nature Genetics. 47, 8, p. 926-932 7 p.

Research output: Contribution to journalArticle

84 Scopus citations
2014

A new leukocyte hyperadhesion syndrome of delayed cord separation, skin infection, and nephrosis

Simpson, B. N., Hogg, N., Svensson, L. M., McDowall, A., Daley, W., Yarbrough, K. & Abdul-Rahman, O. A., Jan 2014, In : Pediatrics. 133, 1, p. e257-e262

Research output: Contribution to journalArticle

5 Scopus citations

Assessment of congenital anomalies in infants born to pregnant women enrolled in clinical trials

Rasmussen, S. A., Hernandez-Diaz, S., Abdul-Rahman, O. A., Sahin, L., Petrie, C. R., Keppler-Noreuil, K. M., Frey, S. E., Mason, R. M., Nesin, M. & Carey, J. C., 2014, In : Clinical Infectious Diseases. 59, p. S428-S436

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

Case 2: Severe anemia in a 6-month-old girl

Whipple, N. S., Abdul-Rahman, O., Megason, G. C. & Herrington, B. L., Mar 2014, In : Pediatrics in review. 35, 3, p. 129-130+132-133

Research output: Contribution to journalArticle

Phenotype and genotype in Nicolaides-Baraitser syndrome

The Nicolaides-Baraitser Syndrome International Consortium, 2014, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 166, 3, p. 302-314 13 p.

Research output: Contribution to journalArticle

30 Scopus citations

Prevalence and characteristics of fetal alcohol spectrum disorders

May, P. A., Baete, A., Russo, J., Elliott, A. J., Blankenship, J., Kalberg, W. O., Buckley, D., Brooks, M., Hasken, J., Abdul-Rahman, O., Adam, M. P., Robinson, L. K., Manning, M. & Hoyme, H. E., Nov 1 2014, In : Pediatrics. 134, 5, p. 855-866 12 p.

Research output: Contribution to journalArticle

295 Scopus citations

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with Autism

Vandeweyer, G., Helsmoortel, C., VanDijck, A., Vulto-Van Silfhout, A. T., Coe, B. P., Bernier, R., Gerdts, J., Rooms, L., Van Den Ende, J., Bakshi, M., Wilson, M., Nordgren, A., Hendon, L. G., Abdulrahman, O. A., Romano, C., De Vries, B. B. A., Kleefstra, T., Eichler, E. E., Van Der Aa, N. & Frank Kooy, R., 2014, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 166, 3, p. 315-326 12 p.

Research output: Contribution to journalArticle

42 Scopus citations
2013

FOXP1 mutations cause intellectual disability and a recognizable phenotype

Le Fevre, A. K., Taylor, S., Malek, N. H., Horn, D., Carr, C. W., Abdul-Rahman, O. A., O'Donnell, S., Burgess, T., Shaw, M., Gecz, J., Bain, N., Fagan, K. & Hunter, M. F., Dec 2013, In : American Journal of Medical Genetics, Part A. 161, 12, p. 3166-3175 10 p.

Research output: Contribution to journalArticle

54 Scopus citations

Neuromotor synapses in Escobar syndrome

Robinson, K. G., Viereck, M. J., Margiotta, M. V., Gripp, K. W., Abdul-Rahman, O. A. & Akins, R. E., Dec 2013, In : American Journal of Medical Genetics, Part A. 161, 12, p. 3042-3048 7 p.

Research output: Contribution to journalArticle

6 Scopus citations

Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grünewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., Kleefstra, T., Yntema, H., Campistol, J., Vilaseca, M. A., Cheillan, D., D'Hooghe, M., Diogo, L., Garcia, P., Valongo, C., Fonseca, M. & 40 others, Frints, S., Wilcken, B., von der Haar, S., Meijers-Heijboer, H. E., Hofstede, F., Johnson, D., Kant, S. G., Lion-Francois, L., Pitelet, G., Longo, N., Maat-Kievit, J. A., Monteiro, J. P., Munnich, A., Muntau, A. C., Nassogne, M. C., Osaka, H., Ounap, K., Pinard, J. M., Quijano-Roy, S., Poggenburg, I., Poplawski, N., Abdul-Rahman, O., Ribes, A., Arias, A., Yaplito-Lee, J., Schulze, A., Schwartz, C. E., Schwenger, S., Soares, G., Sznajer, Y., Valayannopoulos, V., Van Esch, H., Waltz, S., Wamelink, M. M. C., Pouwels, P. J. W., Errami, A., van der Knaap, M. S., Jakobs, C., Mancini, G. M. & Salomons, G. S., 2013, In : Journal of medical genetics. 50, 7, p. 463-472 10 p.

Research output: Contribution to journalArticle

55 Scopus citations

Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency

Reisch, N., Idkowiak, J., Hughes, B. A., Ivison, H. E., Abdul-Rahman, O. A., Hendon, L. G., Olney, A. H., Nielsen, S., Harrison, R., Blair, E. M., Dhir, V., Krone, N., Shackleton, C. H. L. & Arlt, W., Mar 2013, In : Journal of Clinical Endocrinology and Metabolism. 98, 3, p. E528-E536

Research output: Contribution to journalArticle

Open Access
22 Scopus citations

Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7

Reddy, R., Akoury, E., Phuong Nguyen, N. M., Abdul-Rahman, O. A., Dery, C., Gupta, N., Daley, W. P., Ao, A., Landolsi, H., Ann Fisher, R., Touitou, I. & Slim, R., Sep 2013, In : European Journal of Human Genetics. 21, 9, p. 957-964 8 p.

Research output: Contribution to journalArticle

Open Access
39 Scopus citations

Whole-genome copy number variation analysis in anophthalmia and microphthalmia

Schilter, K., Reis, L., Schneider, A., Bardakjian, T., Abdul-Rahman, O., Kozel, B., Zimmerman, H., Broeckel, U. & Semina, E., Nov 2013, In : Clinical Genetics. 84, 5, p. 473-481 9 p.

Research output: Contribution to journalArticle

25 Scopus citations
2012

An immunological basis of hyperphagia driven by GABAergic dysfunction in Prader-Willi Syndrome

Rout, U., Abdul-Rahman, O. A. & Dhossche, D. M., Apr 2012, In : Medical Hypotheses. 78, 4, p. 462-464 3 p.

Research output: Contribution to journalArticle

3 Scopus citations

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

Longoni, M., Lage, K., Russell, M. K., Loscertales, M., Abdul-Rahman, O. A., Baynam, G., Bleyl, S. B., Brady, P. D., Breckpot, J., Chen, C. P., Devriendt, K., Gillessen-Kaesbach, G., Grix, A. W., Rope, A. F., Shimokawa, O., Strauss, B., Wieczorek, D., Zackai, E. H., Coletti, C. M., Maalouf, F. I. & 6 others, Noonan, K. M., Park, J. H., Tracy, A. A., Lee, C., Donahoe, P. K. & Pober, B. R., Dec 2012, In : American Journal of Medical Genetics, Part A. 158 A, 12, p. 3148-3158 11 p.

Research output: Contribution to journalArticle

24 Scopus citations

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Rivière, J. B., Van Bon, B. W. M., Hoischen, A., Kholmanskikh, S. S., O'Roak, B. J., Gilissen, C., Gijsen, S., Sullivan, C. T., Christian, S. L., Abdul-Rahman, O. A., Atkin, J. F., Chassaing, N., Drouin-Garraud, V., Fry, A. E., Fryns, J. P., Gripp, K. W., Kempers, M., Kleefstra, T., Mancini, G. M. S., Nowaczyk, M. J. M. & 13 others, Van Ravenswaaij-Arts, C. M. A., Roscioli, T., Marble, M., Rosenfeld, J. A., Siu, V. M., De Vries, B. B. A., Shendure, J., Verloes, A., Veltman, J. A., Brunner, H. G., Ross, M. E., Pilz, D. T. & Dobyns, W. B., Apr 2012, In : Nature Genetics. 44, 4, p. 440-444 5 p.

Research output: Contribution to journalArticle

156 Scopus citations

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Van Houdt, J. K. J., Nowakowska, B. A., Sousa, S. B., Van Schaik, B. D. C., Seuntjens, E., Avonce, N., Sifrim, A., Abdul-Rahman, O. A., Van Den Boogaard, M. J. H., Bottani, A., Castori, M., Cormier-Daire, V., Deardorff, M. A., Filges, I., Fryer, A., Fryns, J. P., Gana, S., Garavelli, L., Gillessen-Kaesbach, G., Hall, B. D. & 29 others, Horn, D., Huylebroeck, D., Klapecki, J., Krajewska-Walasek, M., Kuechler, A., Lines, M. A., Maas, S., MacDermot, K. D., McKee, S., Magee, A., De Man, S. A., Moreau, Y., Morice-Picard, F., Obersztyn, E., Pilch, J., Rosser, E., Shannon, N., Stolte-Dijkstra, I., Van Dijck, P., Vilain, C., Vogels, A., Wakeling, E., Wieczorek, D., Wilson, L., Zuffardi, O., Van Kampen, A. H. C., Devriendt, K., Hennekam, R. & Vermeesch, J. R., Apr 2012, In : Nature Genetics. 44, 4, p. 445-449 5 p.

Research output: Contribution to journalArticle

140 Scopus citations

Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome

Campeau, P. M., Kim, J. C., Lu, J. T., Schwartzentruber, J. A., Abdul-Rahman, O. A., Schlaubitz, S., Murdock, D. M., Jiang, M. M., Lammer, E. J., Enns, G. M., Rhead, W. J., Rowland, J., Robertson, S. P., Cormier-Daire, V., Bainbridge, M. N., Yang, X. J., Gingras, M. C., Gibbs, R. A., Rosenblatt, D. S., Majewski, J. & 1 others, Lee, B. H., Feb 10 2012, In : American Journal of Human Genetics. 90, 2, p. 282-289 8 p.

Research output: Contribution to journalArticle

Open Access
85 Scopus citations
2011

5q14.3 neurocutaneous syndrome: A novel continguous gene syndrome caused by simultaneous deletion of RASA1 and MEF2C

Carr, C. W., Zimmerman, H. H., Martin, C. L., Vikkula, M., Byrd, A. C. & Abdul-Rahman, O. A., Jul 2011, In : American Journal of Medical Genetics, Part A. 155, 7, p. 1640-1645 6 p.

Research output: Contribution to journalArticle

24 Scopus citations

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

Reis, L. M., Tyler, R. C., Schilter, K. F., Abdul-Rahman, O., Innis, J. W., Kozel, B. A., Schneider, A. S., Bardakjian, T. M., Lose, E. J., Martin, D. M., Broeckel, U. & Semina, E. V., Oct 2011, In : Human genetics. 130, 4, p. 495-504 10 p.

Research output: Contribution to journalArticle

Open Access
68 Scopus citations

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

Betsalel, O. T., Rosenberg, E. H., Almeida, L. S., Kleefstra, T., Schwartz, C. E., Valayannopoulos, V., Abdul-Rahman, O., Poplawski, N., Vilarinho, L., Wolf, P., Den Dunnen, J. T., Jakobs, C. & Salomons, G. S., Jan 2011, In : European Journal of Human Genetics. 19, 1, p. 56-63 8 p.

Research output: Contribution to journalArticle

Open Access
17 Scopus citations