Gretel Beck

Osaka Prefectural Medical Center — Japan

Medicine · Health Sciences

9h-index2.0kcitations10works0.02yr avg
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Research Topics

Retinal Diseases and Treatments(2), Retinal Development and Disorders(2), Genetic and Kidney Cyst Diseases(2), Genetic Syndromes and Imprinting(2), Autism Spectrum Disorder Research(1)

Publications10 total

A case with a 120 base pair insertional mutation in the prion protein gene: the first case in Japan
Journal of Neurology Neurosurgery & Psychiatry·2005· 16 citedOpen Access
Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1)
The American Journal of Human Genetics·2003· 136 citedOpen Access
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia
Nature Genetics·2002· 561 cited
Evidence supporting WNT2 as an autism susceptibility gene
American Journal of Medical Genetics·2001· 206 cited
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
Nature Genetics·2001· 268 cited
An analysis of allelic variation in the ABCA4 gene.
PubMed·2001· 199 cited
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
Nature Genetics·2000· 498 cited
Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome
The American Journal of Human Genetics·1999· 123 citedOpen Access
The University of Iowa gene discovery program
The American Journal of Human Genetics·1999
Short tandem repeat polymorphic markers for the rat genome from marker-selected libraries
Mammalian Genome·1998· 25 cited

Frequent Co-authors

Val C. Sheffield(7), Rivka Carmi(5), Samuel G. Jacobson(4), Edwin M. Stone(4), Neena B. Haider(3), Charles Searby(3), Richard G. Weleber(3), Roxanne Y. Walder(2), Daniel Landau(2), Hanna Shalev(2), Ruth E. Swiderski(2), Susan W. Gorman(2), David M. Duhl(2), Gerald A. Fishman(2), Alan F. Wright(2), Kirk Mykytyn(2), Terry A. Braun(2), Alessandro Iannaccone(2), Ruth Riise(2), Thomas L. Casavant(2)