Research Output

2020

Gain-of-function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome

Lin, A. E., Alali, A., Starr, L. J., Shah, N., Beavis, A., Pereira, E. M., Lindsay, M. E. & Klugman, S., Feb 1 2020, In : American Journal of Medical Genetics, Part A. 182, 2, p. 328-337 10 p.

Research output: Contribution to journalArticle

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

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., Jan 1 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

26 Scopus citations

Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (Genetics in Medicine, (2018), 10.1038/s41436-018-0269-0)

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Mar 1 2019, In : Genetics in Medicine. 21, 3, p. 764-765 2 p.

Research output: Contribution to journalComment/debate

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

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Koczkowska, M., Callens, T., Gomes, A., Sharp, A., Chen, Y., Hicks, A. D., Aylsworth, A. S., Azizi, A. A., Basel, D. G., Bellus, G., Bird, L. M., Blazo, M. A., Burke, L. W., Cannon, A., Collins, F., DeFilippo, C., Denayer, E., Digilio, M. C., Dills, S. K., Dosa, L. & 50 others, Greenwood, R. S., Griffis, C., Gupta, P., Hachen, R. K., Hernández-Chico, C., Janssens, S., Jones, K. J., Jordan, J. T., Kannu, P., Korf, B. R., Lewis, A. M., Listernick, R. H., Lonardo, F., Mahoney, M. J., Ojeda, M. M., McDonald, M. T., McDougall, C., Mendelsohn, N., Miller, D. T., Mori, M., Oostenbrink, R., Perreault, S., Pierpont, M. E., Piscopo, C., Pond, D. A., Randolph, L. M., Rauen, K. A., Rednam, S., Rutledge, S. L., Saletti, V., Schaefer, G. B., Schorry, E. K., Scott, D. A., Shugar, A., Siqveland, E., Starr, L. J., Syed, A., Trapane, P. L., Ullrich, N. J., Wakefield, E. G., Walsh, L. E., Wangler, M. F., Zackai, E., Claes, K. B. M., Wimmer, K., van Minkelen, R., De Luca, A., Martin, Y., Legius, E. & Messiaen, L. M., Apr 1 2019, In : Genetics in Medicine. 21, 4, p. 867-876 10 p.

Research output: Contribution to journalArticle

14 Scopus citations

Experiences of a multidisciplinary genomic tumor board interpreting risk for underlying germline variants in tumor-only sequencing results

Fishler, K. P., Breese, E. H., Walters-Sen, L. & McGowan, M. L., Jan 1 2019, In : JCO Precision Oncology. 3

Research output: Contribution to journalArticle

1 Scopus citations

Hb Gibbon [β124(H2)Pro→Thr (HBB: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening

Wolf, A., Rohr, J. M., Amador, C., Starr, L. J., Hoyer, J. D. & Ford, J. B., May 4 2019, In : Hemoglobin. 43, 3, p. 207-209 3 p.

Research output: Contribution to journalArticle

1 Scopus citations

Knowledge, motivations, expectations, and traits of an African, African-American, and Afro-Caribbean sequencing cohort and comparisons to the original ClinSeq® cohort

Lewis, K. L., Heidlebaugh, A. R., Epps, S., Han, P. K. J., Fishler, K. P., Klein, W. M. P., Miller, I. M., Ng, D., Hepler, C., Biesecker, B. B. & Biesecker, L. G., Jun 1 2019, In : Genetics in Medicine. 21, 6, p. 1355-1362 8 p.

Research output: Contribution to journalArticle

3 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
1 Scopus citations
1 Scopus citations

PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype

Starr, L. J., Spranger, J. W., Rao, V. K., Lutz, R. & Yetman, A. T., Jul 2019, In : American Journal of Medical Genetics, Part A. 179, 7, p. 1270-1275 6 p.

Research output: Contribution to journalArticle

1 Scopus citations

Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/− mice

Pringsheim, M., Mitter, D., Schröder, S., Warthemann, R., Plümacher, K., Kluger, G., Baethmann, M., Bast, T., Braun, S., Büttel, H. M., Conover, E., Courage, C., Datta, A. N., Eger, A., Grebe, T. A., Hasse-Wittmer, A., Heruth, M., Höft, K., Kaindl, A. M., Karch, S. & 20 others, Kautzky, T., Korenke, G. C., Kruse, B., Lutz, R. E., Omran, H., Patzer, S., Philippi, H., Ramsey, K., Rating, T., Rieß, A., Schimmel, M., Westman, R., Zech, F. M., Zirn, B., Ulmke, P. A., Sokpor, G., Tuoc, T., Leha, A., Staudt, M. & Brockmann, K., Apr 2019, In : Annals of Clinical and Translational Neurology. 6, 4, p. 655-668 14 p.

Research output: Contribution to journalArticle

Open Access

Utilization of echocardiography in Ehlers-Danlos syndrome

Rauser-Foltz, K. K., Starr, L. J. & Yetman, A. T., Sep 1 2019, In : Congenital Heart Disease. 14, 5, p. 864-867 4 p.

Research output: Contribution to journalArticle

2018
2 Scopus citations

Eliciting narratives to inform for infants with Trisomy 18

Weaver, M. S., Starr, L. J., Austin, P. N., Stevenson, C. L. & Hammel, J. M., Oct 2018, In : Pediatrics. 142, 4, e20180321.

Research output: Contribution to journalArticle

2 Scopus citations

FOXG1 syndrome: Genotype-phenotype association in 83 patients with FOXG1 variants

Mitter, D., Pringsheim, M., Kaulisch, M., Plümacher, K. S., Schröder, S., Warthemann, R., Abou Jamra, R., Baethmann, M., Bast, T., Büttel, H. M., Cohen, J. S., Conover, E., Courage, C., Eger, A., Fatemi, A., Grebe, T. A., Hauser, N. S., Heinritz, W., Helbig, K. L., Heruth, M. & 21 others, Huhle, D., Höft, K., Karch, S., Kluger, G., Korenke, G. C., Lemke, J. R., Lutz, R. E., Patzer, S., Prehl, I., Hoertnagel, K., Ramsey, K., Rating, T., Rieß, A., Rohena, L., Schimmel, M., Westman, R., Zech, F. M., Zoll, B., Malzahn, D., Zirn, B. & Brockmann, K., Jan 1 2018, In : Genetics in Medicine. 20, 1, p. 98-108 11 p.

Research output: Contribution to journalArticle

13 Scopus citations
7 Scopus citations

Outcomes of Counseling after Education about Carrier Results: A Randomized Controlled Trial

Lewis, K. L., Umstead, K. L., Johnston, J. J., Miller, I. M., Thompson, L. J., Fishler, K. P., Biesecker, L. G. & Biesecker, B. B., Apr 5 2018, In : American Journal of Human Genetics. 102, 4, p. 540-546 7 p.

Research output: Contribution to journalArticle

Open Access
6 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, 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

173 Scopus citations

Web platform vs in-person genetic counselor for return of carrier results from exome sequencing a randomized clinical trial

Biesecker, B. B., Lewis, K. L., Umstead, K. L., Johnston, J. J., Turbitt, E., Fishler, K. P., Patton, J. H., Miller, I. M., Heidlebaugh, A. R. & Biesecker, L. G., Mar 2018, In : JAMA Internal Medicine. 178, 3, p. 338-346 9 p.

Research output: Contribution to journalArticle

Open Access
25 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
31 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
14 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., Jan 1 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
22 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

27 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
16 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

81 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

Capture-based high-coverage NGS: A powerful tool to uncover a wide spectrum of mutation types

Wang, J., Yu, H., Zhang, V. W., Tian, X., Feng, Y., Wang, G., Gorman, E., Wang, H., Lutz, R. E., Schmitt, E. S., Peacock, S. & Wong, L. J., May 1 2016, In : Genetics in Medicine. 18, 5, p. 513-521 9 p.

Research output: Contribution to journalArticle

10 Scopus citations

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Green, R. C., Goddard, K. A. B., Jarvik, G. P., Amendola, L. M., Appelbaum, P. S., Berg, J. S., Bernhardt, B. A., Biesecker, L. G., Biswas, S., Blout, C. L., Bowling, K. M., Brothers, K. B., Burke, W., Caga-Anan, C. F., Chinnaiyan, A. M., Chung, W. K., Clayton, E. W., Cooper, G. M., East, K., Evans, J. P. & 207 others, Fullerton, S. M., Garraway, L. A., Garrett, J. R., Gray, S. W., Henderson, G. E., Hindorff, L. A., Holm, I. A., Lewis, M. H., Hutter, C. M., Janne, P. A., Joffe, S., Kaufman, D., Knoppers, B. M., Koenig, B. A., Krantz, I. D., Manolio, T. A., McCullough, L., McEwen, J., McGuire, A., Muzny, D., Myers, R. M., Nickerson, D. A., Ou, J., Parsons, D. W., Petersen, G. M., Plon, S. E., Rehm, H. L., Roberts, J. S., Robinson, D., Salama, J. S., Scollon, S., Sharp, R. R., Shirts, B., Spinner, N. B., Tabor, H. K., Tarczy-Hornoch, P., Veenstra, D. L., Wagle, N., Weck, K., Wilfond, B. S., Wilhelmsen, K., Wolf, S. M., Wynn, J., Yu, J. H., Amaral, M., Aronson, S. J., Arora, S., Azzariti, D. R., Barsh, G. S., Bebin, E. M., Biesecker, B. B., Brown, B. L., Burt, A. A., Byers, P. H., Calikoglu, M. G., Carlson, S. J., Chahin, N., Christensen, K. D., Cirino, A. L., Conlin, L. K., Cooper, G. M., Crosslin, D. R., Davis, J. V., Davis, K., Deardorff, M. A., Devkota, B., De Vries, R., Diamond, P., Dorschner, M. O., Dugan, N. P., Dukhovny, D., Dulik, M. C., East, K. M., Rivera-Munoz, E. A., Evans, B., Everett, J., Exe, N., Fan, Z., Feuerman, L. Z., Filipski, K., Finnila, C. R., Fishler, K., Ghrundmeier, B., Giles, K., Gilmore, M. J., Girnary, Z. S., Gonsalves, S., Gordon, A. S., Gornick, M. C., Grady, W. M., Gray, D. E., Greenwood, R. S., Gutierrez, A. M., Han, P., Hart, R., Heagerty, P., Hensman, N., Hiatt, S. M., Himes, P., Hisama, F. M., Ho, C. Y., Hoffman-Andrews, L. B., Hong, C., Horike-Pyne, M. J., Hull, S., Jamal, S., Jensen, B. C., Johnston, J., Karavite, D., Kauffman, T. L., Kaufman, D., Kelley, W., Kim, J. H., Kirby, C., Klein, W., Kong, S. W., Krier, J. B., Lamb, N. E., Lambert, M. P., Le, L. Q., Lebo, M. S., Lee, A., Lee, K. B., Lennon, N., Leo, M. C., Leppig, K. A., Lewis, K., Lindeman, N. I., Lockhart, N., Lonigro, B., Lose, E. J., Lupo, P. J., Rodriguez, L. L., Lynch, F., Machini, K., Macrae, C., Marchuk, D. S., Martinez, J. N., Masino, A., McLaughlin, H. M., McMullen, C., Mieczkowski, P. A., Miller, J., Miller, V. A., Mody, R., Mooney, S. D., Moore, E. G., Morris, E., Murray, M., Ng, D., Oliver, N. M., Parsons, W., Patrick, D. L., Pennington, J., Perry, D. L., Porter, K., Powell, B. C., Punj, S., Breitkopf, C. R., Raesz-Martinez, R. A., Raskind, W. H., Reigar, D. A., Reiss, J. A., Rich, C. A., Richards, C. S., Rini, C., Roberts, S., Robertson, P. D., Robinson, J. O., Robinson, M. E., Roche, M. I., Romasko, E. J., Rosenthal, E. A., Scarano, M. I., Schneider, J., Seidman, C. E., Seifert, B. A., Shirts, B. H., Sholl, L. M., Siddiqui, J., Silverman, E., Simmons, S., Simons, J. V., Skinner, D., Stoffel, E., Strande, N. T., Sunyaev, S., Sybert, V. P., Taber, J., Taylor, D. M., Tilley, C. R., Tomlinson, A., Trinidad, S., Tsai, E., Van Allen, E. M., Vassy, J. L., Vats, P., Vetter, V. L., Vries, R. D., Walser, S. A., Walsh, R. C., Werner-Lin, A., Whittle, J., Wilhelmsen, K. C., Yang, Y., Young, C. & Zikmund-Fisher, B. J., Jun 2 2016, In : American Journal of Human Genetics. 98, 6, p. 1051-1066 16 p.

Research output: Contribution to journalArticle

Open Access
87 Scopus citations

Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))

Green, R. C., Goddard, K. A. B., Jarvik, G. P., Amendola, L. M., Appelbaum, P. S., Berg, J. S., Bernhardt, B. A., Biesecker, L. G., Biswas, S., Blout, C. L., Bowling, K. M., Brothers, K. B., Burke, W., Caga-anan, C. F., Chinnaiyan, A. M., Chung, W. K., Clayton, E. W., Cooper, G. M., East, K., Evans, J. P. & 258 others, Fullerton, S. M., Garraway, L. A., Garrett, J. R., Gray, S. W., Henderson, G. E., Hindorff, L. A., Holm, I. A., Lewis, M. H., Hutter, C. M., Janne, P. A., Joffe, S., Kaufman, D., Knoppers, B. M., Koenig, B. A., Krantz, I. D., Manolio, T. A., McCullough, L., McEwen, J., McGuire, A., Muzny, D., Myers, R. M., Nickerson, D. A., Ou, J., Parsons, D. W., Petersen, G. M., Plon, S. E., Rehm, H. L., Roberts, J. S., Robinson, D., Salama, J. S., Scollon, S., Sharp, R. R., Shirts, B., Spinner, N. B., Tabor, H. K., Tarczy-Hornoch, P., Veenstra, D. L., Wagle, N., Weck, K., Wilfond, B. S., Wilhelmsen, K., Wolf, S. M., Wynn, J., Yu, J. H., Amaral, M., Amendola, L., Appelbaum, P. S., Aronson, S. J., Arora, S., Azzariti, D. R., Barsh, G. S., Bebin, E. M., Biesecker, B. B., Biesecker, L. G., Biswas, S., Blout, C. L., Bowling, K. M., Brothers, K. B., Brown, B. L., Burt, A. A., Byers, P. H., Caga-anan, C. F., Calikoglu, M. G., Carlson, S. J., Chahin, N., Chinnaiyan, A. M., Christensen, K. D., Chung, W., Cirino, A. L., Clayton, E., Conlin, L. K., Cooper, G. M., Crosslin, D. R., Davis, J. V., Davis, K., Deardorff, M. A., Devkota, B., De Vries, R., Diamond, P., Dorschner, M. O., Dugan, N. P., Dukhovny, D., Dulik, M. C., East, K. M., Rivera-Munoz, E. A., Evans, B., Evans, J. P., Everett, J., Exe, N., Fan, Z., Feuerman, L. Z., Filipski, K., Finnila, C. R., Fishler, K., Fullerton, S. M., Ghrundmeier, B., Giles, K., Gilmore, M. J., Girnary, Z. S., Goddard, K., Gonsalves, S., Gordon, A. S., Gornick, M. C., Grady, W. M., Gray, D. E., Gray, S. W., Green, R., Greenwood, R. S., Gutierrez, A. M., Han, P., Hart, R., Heagerty, P., Henderson, G. E., Hensman, N., Hiatt, S. M., Himes, P., Hindorff, L. A., Hisama, F. M., Ho, C. Y., Hoffman-Andrews, L. B., Holm, I. A., Hong, C., Horike-Pyne, M. J., Hull, S., Hutter, C. M., Jamal, S., Jarvik, G. P., Jensen, B. C., Joffe, S., Johnston, J., Karavite, D., Kauffman, T. L., Kaufman, D., Kelley, W., Kim, J. H., Kirby, C., Klein, W., Koenig, B. A., Kong, S. W., Krantz, I., Krier, J. B., Lamb, N. E., Lambert, M. P., Le, L. Q., Lebo, M. S., Lee, A., Lee, K. B., Lennon, N., Leo, M. C., Leppig, K. A., Lewis, K., Lewis, M., Lindeman, N. I., Lockhart, N., Lonigro, B., Lose, E. J., Lupo, P. J., Rodriguez, L. L., Lynch, F., Machini, K., MacRae, C., Manolio, T. A., Marchuk, D. S., Martinez, J. N., Masino, A., McCullough, L., McEwen, J., McGuire, A., McLaughlin, H. M., McMullen, C., Mieczkowski, P. A., Miller, J., Miller, V. A., Mody, R., Mooney, S. D., Moore, E. G., Morris, E., Murray, M., Muzny, D., Myers, R. M., Ng, D., Nickerson, D. A., Oliver, N. M., Ou, J., Parsons, W., Patrick, D. L., Pennington, J., Perry, D. L., Petersen, G., Plon, S., Porter, K., Powell, B. C., Punj, S., Breitkopf, C. R., Raesz-Martinez, R. A., Raskind, W. H., Rehm, H. L., Reigar, D. A., Reiss, J. A., Rich, C. A., Richards, C. S., Rini, C., Roberts, S., Robertson, P. D., Robinson, D., Robinson, J. O., Robinson, M. E., Roche, M. I., Romasko, E. J., Rosenthal, E. A., Salama, J., Scarano, M. I., Schneider, J., Scollon, S., Seidman, C. E., Seifert, B. A., Sharp, R. R., Shirts, B. H., Sholl, L. M., Siddiqui, J., Silverman, E., Simmons, S., Simons, J. V., Skinner, D., Spinner, N. B., Stoffel, E., Strande, N. T., Sunyaev, S., Sybert, V. P., Taber, J., Tabor, H. K., Tarczy-Hornoch, P., Taylor, D. M., Tilley, C. R., Tomlinson, A., Trinidad, S., Tsai, E., Ubel, P., Van Allen, E. M., Vassy, J. L., Vats, P., Veenstra, D. L., Vetter, V. L., Vries, R. D., Wagle, N., Walser, S. A., Walsh, R. C., Weck, K., Werner-Lin, A., Whittle, J., Wilfond, B., Wilhelmsen, K. C., Wolf, S. M., Wynn, J., Yang, Y., Young, C., Yu, J. H. & Zikmund-Fisher, B. J., Jul 7 2016, In : American Journal of Human Genetics. 99, 1, 1 p.

Research output: Contribution to journalComment/debate

Open Access
16 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

10 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 first patient with tandem duplication of 6q14q16: Molecular and phenotypic characterization

Sanmann, J. N., Casas, K. A., Bevilacqua, J., Bishay, D. L., Clark, T., Van Dyke, A. Z., Leiferman, P. C., Reddi, H. V. & Starr, L. J., Sep 1 2016, In : American Journal of Medical Genetics, Part A. 170, 9, p. 2416-2420 5 p.

Research output: Contribution to journalArticle

1 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
29 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

165 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

Assessing the utility of confirmatory studies following identification of large-scale genomic imbalances by microarray

Sanmann, J. N., Pickering, D. L., Golden, D. M., Stevens, J. M., Hempel, T. E., Althof, P. A., Wiggins, M. L., Starr, L. J., Dave, B. J. & Sanger, W. G., Nov 1 2015, In : Genetics in Medicine. 17, 11, p. 875-879 5 p.

Research output: Contribution to journalArticle

2 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., Jan 1 2015, In : Journal of medical genetics. 52, 12, p. 804-814 11 p.

Research output: Contribution to journalArticle

15 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

79 Scopus citations

Myhre syndrome: Clinical features and restrictive cardiopulmonary complications

Starr, L. J., Grange, D. K., Delaney, J. W., Yetman, A. T., Hammel, J. M., Sanmann, J. N., Perry, D. A., Schaefer, G. B. & Olney, A. H., Dec 1 2015, In : American Journal of Medical Genetics, Part A. 167, 12, p. 2893-2901 9 p.

Research output: Contribution to journalArticle

11 Scopus citations

Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses

Zarate, Y. A., Bosanko, K. A., Bhoj, E., Ganetzky, R., Starr, L. J., Zackai, E. H. & Schaefer, G. B., Sep 1 2015, In : American Journal of Medical Genetics, Part A. 167, 9, p. 2168-2175 8 p.

Research output: Contribution to journalArticle

1 Scopus citations