Concepedia

Nathaniel H. Robin

NH

Statistics

Publications

95

Citations

6.3K

H-Index

38

Active since

1990

Affiliations

University of Alabama at Birmingham(Current)

Case Western Reserve University

University Hospitals of Cleveland

University School

Center for Human Genetics

Nathaniel H. Robin is an author at University of Alabama at Birmingham specializing in genetics, medical genetics, and human genetics.

ORCID

Publications per year

1990–2022

95

Publications

95

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

Maximilian Muenke, Ute Schell, Andreas Hehr et al. · Nature Genetics · 1994 · 623 citations

, , +10

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

Maximilian Muenke, Karen W. Gripp, Donna M. McDonald‐McGinn et al. · PubMed · 1997 · 394 citations

, , +16

The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

Luisa Nanni, Jeffrey E. Ming, Maureen Bocian et al. · Human Molecular Genetics · 1999 · 360 citations · Full text

, , +15

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Raye Lynn Alford, Kathleen S. Arnos, Michelle Fox et al. · Genetics in Medicine · 2014 · 278 citations · Full text

, , +17

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

Rachel D. Burnside, Romela Pasion, Fady M. Mikhail et al. · Human Genetics · 2011 · 255 citations · Full text

, , +17

1–5 of 95