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

  • 4 Similar Profiles
Genes Medicine & Life Sciences
Mutation Medicine & Life Sciences
Proteins Medicine & Life Sciences
Ornithine-Oxo-Acid Transaminase Medicine & Life Sciences
Gyrate Atrophy Medicine & Life Sciences
Ornithine Medicine & Life Sciences
Proline Medicine & Life Sciences
Phenotype Medicine & Life Sciences

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Research Output 1973 2017

Lamin Type A
Gene Frequency
Type 2 Diabetes Mellitus
Hispanic Americans
African Americans

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

Sobreira, N., Brucato, M., Zhang, L., Ladd-Acosta, C., Ongaco, C., Romm, J., Doheny, K. F., Mingroni-Netto, R. C., Bertola, D., Kim, C. A., Perez, A. B., Melaragno, M. I., Valle, D., Meloni, V. A. & Bjornsson, H. T. Dec 1 2017 In : European Journal of Human Genetics. 25, 12, p. 1335-1344 10 p.

Research output: Research - peer-reviewArticle

DNA Methylation
Phenotype
Kabuki syndrome
Histones
Genes

Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD

Guo, W. , Samuels, J. F. , Wang, Y. , Cao, H. , Ritter, M. , Nestadt, P. S. , Krasnow, J. , Greenberg, B. D. , Fyer, A. J. , McCracken, J. T. , Geller, D. A. , Murphy, D. L. , Knowles, J. A. , Grados, M. A. , Riddle, M. A. , Rasmussen, S. A. , McLaughlin, N. C. , Nurmi, E. L. , Askland, K. D. , Cullen, B. A. & 12 others Piacentini, J., Pauls, D. L., Bienvenu, O. J., Stewart, S. E., Goes, F. S., Maher, B., Pulver, A. E., Valle, D., Mattheisen, M., Qian, J., Nestadt, G. & Shugart, Y. Y. Jul 1 2017 In : European Neuropsychopharmacology. 27, 7, p. 657-666 10 p.

Research output: Research - peer-reviewArticle

Obsessive-Compulsive Disorder
Autism Spectrum Disorder
Datasets
Genome-Wide Association Study
Genome

Skeletal dysplasias: Growing therapy for growing bones

Jelin, A. C., O'Hare, E., Blakemore, K., Jelin, E. B., Valle, D. & Hoover-Fong, J. Mar 6 2017 In : Frontiers in Pharmacology. 8, MAR, 79

Research output: Research - peer-reviewReview article

Bone and Bones
Therapeutics
Otolaryngology
Airway Obstruction
Intubation

Thorase variants are associated with defects in glutamatergic neurotransmission that can be rescued by Perampanel

Umanah, G. K. E. , Pignatelli, M. , Yin, X. , Chen, R. , Crawford, J. , Neifert, S. , Scarffe, L. , Behensky, A. A. , Guiberson, N. , Chang, M. , Ma, E. , Kim, J. W. , Castro, C. C. , Mao, X. , Chen, L. , Andrabi, S. A. , Pletnikov, M. V. , Pulver, A. E. , Avramopoulos, D. , Bonci, A. & 3 others Valle, D., Dawson, T. M. & Dawson, V. L. Dec 13 2017 In : Science Translational Medicine. 9, 420, aah4985

Research output: Research - peer-reviewArticle

Synaptic Transmission
Acids
perampanel
Neuronal Plasticity
United States Food and Drug Administration