Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Nathaniel H. Robin | Researchclopedia

Back to researchers

Nathaniel H. Robin

University of Alabama at Birmingham ORCID

255

Works

7,456

Citations

41

h-index

114

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Craniofacial Disorders and Treatments Congenital heart defects research

Affiliations

Seattle Children's Hospital2020–2020

MetroHealth2000–2000

Hudson Institute2022–2022

Children's Hospital of Philadelphia1993–1997

University of Alabama at Birmingham Hospital2025–2025

Top Works

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

Maximilian Muenke,Ute Schell,et al.

1994622 citations

Cleft Lip and Palate Research

Genomics and Rare Diseases

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

Maximilian Muenke,Karen W. Gripp,et al.

1997394 citations

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,et al.

1999359 citations

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

Raye Lynn Alford,Kathleen S. Arnos,et al.

2014273 citations

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

Alexander Polinkovsky,Nathaniel H. Robin,et al.

1997261 citations

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,et al.

2011252 citations

Defining the Clinical Spectrum of Deletion 22q11.2

Nathaniel H. Robin,Robert J. Shprintzen

2005243 citations

Mutations in <i>FGFR1</i> and <i>FGFR2</i> cause familial and sporadic Pfeiffer syndrome

Ute Schell,Andreas Hehr,et al.

1995232 citations

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

Deborah Mackay,Susanne E. Boonen,et al.

2006191 citations