Robin, Nathaniel H.

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome

Muenke, M., Schell, U., Hehr, A., Robin, N. H., Losken, H. W., Schinzel, A., Pulleyn, L. J., Rutland, P., Reardon, W., Malcolm, S., et al. (1994) · Nature Genetics

Craniofacial Disorders and TreatmentsConnective tissue disorders research

Cited by 614

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay

Burnside, R. D., Pasion, R., Mikhail, F. M., Carroll, A. J., Robin, N. H., Youngs, E. L., Gadi, I. K., Keitges, E., Jaswaney, V. L., Papenhausen, P. R., et al. (2011) · Human Genetics

Genomic variations and chromosomal abnormalitiesGenetic Syndromes and Imprinting

Cited by 257

Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders

Mikhail, F. M., Lose, E. J., Robin, N. H., Descartes, M. D., Rutledge, K. D., Rutledge, S. L., Korf, B. R., & Carroll, A. J. (2011) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 168

Natural history and genotype‐phenotype correlations in 72 individuals with SATB2 ‐associated syndrome

Zarate, Y. A., Smith‐Hicks, C. L., Greene, C., Abbott, M., Siu, V. M., Calhoun, A. R. U. L., Pandya, A., Li, C., Sellars, E. A., Kaylor, J., et al. (2018) · American Journal of Medical Genetics Part A

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 71

The relationship between performance on the medical genetics and genomics in-training and certifying examinations

Waggoner, D. J., O’Donnell, F., Ligon, A. H., Robin, N. H., McAllister, K. T., & Blitzer, M. G. (2022) · Genetics in Medicine

Innovations in Medical EducationMedical Education and Admissions

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