Nathaniel H. Robin
University of Alabama at Birmingham(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Craniofacial Disorders and Treatments, Congenital heart defects research, Cleft Lip and Palate Research, Genomics and Rare Diseases
Most-Cited Works
- → A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome(1994)622 cited
- A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.(1997)
- → The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly(1999)359 cited
- → American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss(2014)273 cited
- → Mutations in CDMP1 cause autosomal dominant brachydactyly type C(1997)261 cited
- → Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay(2011)252 cited
- → Defining the Clinical Spectrum of Deletion 22q11.2(2005)