Nathaniel H. Robin

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 · 622 citations

Fibrosis, Mendelian Disorder, Common Mutation +8

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

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 · 359 citations · Full text

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 · 267 citations · Full text

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 · 251 citations · Full text

Neurodevelopmental Disorders, Molecular Neuroscience, Proximal 15Q11.2 +11