Concepedia

Annemarie Sommer

AS

Statistics

Publications

42

Citations

2.2K

H-Index

22

Active since

1971

Affiliations

Nationwide Children's Hospital(Current)

The Ohio State University

Boston Children's Hospital

Ohio State University Hospital

Annemarie Sommer is an author at Nationwide Children's Hospital specializing in human genetics, medicine, and genetic disorders.

Publications per year

1971–2016

42

Publications

42

Mutations in PYCR1 cause cutis laxa with progeroid features

Bruno Reversade, Nathalie Escande‐Beillard, Aikaterini Dimopoulou et al. · Nature Genetics · 2009 · 253 citations · Full text

, , +5

Apnea and sudden unexpected death in infants with achondroplasia

Richard M. Pauli, Charles I. Scott, E. Robert Wassman et al. · The Journal of Pediatrics · 1984 · 205 citations

, , +12

GTF2I hemizygosity implicated in mental retardation in Williams syndrome: Genotype–phenotype analysis of five families with deletions in the Williams syndrome region

Colleen A. Morris, Carolyn Β. Mervis, Holly H. Hobart et al. · American Journal of Medical Genetics Part A · 2003 · 186 citations

, , +14

Increasing knowledge of <i>PTEN</i> germline mutations: Two additional patients with autism and macrocephaly

Gail E. Herman, Eric Butter, Benedicta G. Enrile et al. · American Journal of Medical Genetics Part A · 2007 · 158 citations

, , +16

A common FGFR3 gene mutation in hypochondroplasia

Panagiotis Prinos, Teresa Costa, Annemarie Sommer et al. · Human Molecular Genetics · 1995 · 132 citations

, , +14

1–5 of 42