Anat Blumenfeld

Tissue-Specific Expression of a Splicing Mutation in the Gene Causes Familial Dysautonomia

Susan A. Slaugenhaupt, Anat Blumenfeld, Sandra Gill et al. · The American Journal of Human Genetics · 2001 · 593 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

Mutation in Transcription Factor <i>POU4F3</i> Associated with Inherited Progressive Hearing Loss in Humans

Oz Vahava, Robert J. Morell, Eric D. Lynch et al. · Science · 1998 · 348 citations

Coupling of photoexcited rhodopsin to inositol phospholipid hydrolysis in fly photoreceptors.

O Devary, Ora Heichal, Anat Blumenfeld et al. · Proceedings of the National Academy of Sciences · 1987 · 192 citations · Full text

Photobiology, Molecular Biology, Optogenetics +24

Amyloid-β ¹¹ C-PiB-PET imaging results from 2 randomized bapineuzumab phase 3 AD trials

Enchi Liu, Mark E. Schmidt, Richard Margolin et al. · Neurology · 2015 · 149 citations · Full text

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis

Anat Blumenfeld, Susan A. Slaugenhaupt, Felicia B. Axelrod et al. · Nature Genetics · 1993 · 148 citations

Dna Markers, Genetic Testing, Mendelian Disorder +8