Fingerprint Fingerprint is based on mining the text of the persons scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

De Lange Syndrome Medicine & Life Sciences
Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Genes Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Extremities Medicine & Life Sciences
Chromosomes, Human, Pair 18 Medicine & Life Sciences
Missense Mutation Medicine & Life Sciences

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Research Output 1992 2017

Cornelia de Lange syndrome and molecular implications of the cohesin complex: Abstracts from the 7th biennial scientific and educational symposium 2016

Kline, A. D. , Krantz, I. D. , Deardorff, M. A. , Shirahige, K. , Dorsett, D. , Gerton, J. L. , Wu, M. , Mehta, D. , Mills, J. A. , Carrico, C. S. , Noon, S. , Herrera, P. S. , Horsfield, J. A. , Bettale, C. , Morgan, J. , Huisman, S. A. , Moss, J. , McCleery, J. , Grados, M. , Hansen, B. D. & 8 others Srivastava, S., Taylor-Snell, E., Kerr, L. M., Katz, O., Calof, A. L., Musio, A., Egense, A. & Haaland, R. E. May 1 2017 In : American Journal of Medical Genetics, Part A. 173, 5, p. 1172-1185 14 p.

Research output: Contribution to journalArticle

De Lange Syndrome
Baltimore
Developmental Biology
Regulator Genes
Autistic Disorder

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. 2017 In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Noonan Syndrome
Technology
Asian Americans
Pulmonary Valve Stenosis
ras Genes

Buggies, villi, cornelia, and genes: My extended mentorship with LG Jackson

Kline, A. D. Jun 1 2016 In : American Journal of Medical Genetics, Part A. 172, 2, p. 83-85 3 p.

Research output: Contribution to journalComment/debate

Mentors
Medical Genetics
Genes

Cornelia de Lange syndrome: Correlation of brain MRI findings with behavioral assessment

Roshan Lal, T. R., Kliewer, M. A., Lopes, T., Rebsamen, S. L., O'Connor, J., Grados, M. A., Kimball, A., Clemens, J. & Kline, A. D. 2016 In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

De Lange Syndrome
Brain
Checklist
White Matter
Gliosis

Improvement in hearing loss over time in Cornelia de Lange syndrome

Janek, K. C., Smith, D. F., Kline, A. D., Benke, J. R., Chen, M. L., Kimball, A. & Ishman, S. L. Aug 1 2016 In : International Journal of Pediatric Otorhinolaryngology. 87, p. 203-207 5 p.

Research output: Contribution to journalArticle

De Lange Syndrome
Hearing Loss
Sensorineural Hearing Loss
Conductive Hearing Loss
Brain Stem Auditory Evoked Potentials