Genetics & Metabolism

Fingerprint The fingerprint is based on mining the text of the scientific documents related to the associated persons. Based on that an index of weighted terms is created, which defines the key subjects of research unit

Mutation Medicine & Life Sciences
Phenotype Medicine & Life Sciences
Microcephaly Medicine & Life Sciences
Genes Medicine & Life Sciences
Colombia Medicine & Life Sciences
Mucopolysaccharidosis III Medicine & Life Sciences
Registries Medicine & Life Sciences
methionyl-tRNA formyltransferase Medicine & Life Sciences

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Research Output 1972 2018

An additional case of Hennekam lymphangiectasia–lymphedema syndrome caused by loss-of-function mutation in ADAMTS3

Scheuerle, A., Sweed, N. T., Timmons, C. F., Smith, E. D., Alcaraz, W. A. & Shinde, D. N., Jan 1 2018, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Genetic Databases
Vascular Endothelial Growth Factor C
Disintegrins
Mutation
Nonsense Codon

Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation

Wooderchak-Donahue, W. L., Johnson, P., McDonald, J., Blei, F., Berenstein, A., Sorscher, M., Mayer, J., Scheuerle, A. E., Lewis, T., Grimmer, J. F., Richter, G. T., Steeves, M. A., Lin, A. E., Stevenson, D. A. & Bayrak-Toydemir, P., Jun 11 2018, (Accepted/In press) In : European Journal of Human Genetics. p. 1-16 16 p.

Research output: Contribution to journalArticle

Arteriovenous Fistula
Sturge-Weber Syndrome
Phenotype
Vascular Malformations
Comparative Genomic Hybridization

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

Nguyen, T. T. M., Murakami, Y., Wigby, K. M., Baratang, N. V., Rousseau, J., St-Denis, A., Rosenfeld, J. A., Laniewski, S. C., Jones, J., Iglesias, A. D., Jones, M. C., Masser-Frye, D., Scheuerle, A. E., Perry, D. L., Taft, R. J., Le Deist, F., Thompson, M., Kinoshita, T. & Campeau, P. M., Oct 4 2018, In : American journal of human genetics. 103, 4, p. 602-611 10 p.

Research output: Contribution to journalArticle

Glycosylphosphatidylinositols
Brain Diseases
Mutation
Exome
Phenotype