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

Susan A. Slaugenhaupt, Anat Blumenfeld, Sandra Gill, +15

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderGeneticsPathologyTissue-specific Expression +7

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

Oz Vahava, Robert J. Morell, Eric D. Lynch, +12

Science

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

O Devary, Ora Heichal, Anat Blumenfeld, +5

Proceedings of the National Academy of Sciences

PhotobiologyMolecular BiologyOptogeneticsCellular PhysiologyPhototropin +22

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

Enchi Liu, Mark E. Schmidt, Richard Margolin, +892

Neurology

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, +8

Nature Genetics

Dna MarkersGenetic TestingMendelian DisorderGenetic DisorderGenetics +6

Bone mineral metabolism in adults with β‐thalassaemia major and intermedia

Rivka Dresner Pollak, Eliezer A. Rachmilewitz, Anat Blumenfeld, +2

British Journal of Haematology

Frequent loss of chromosome 14 in atypical and malignant meningioma: identification of a putative `tumor progression' locus

Anil G. Menon, Joni L. Rutter, Jean Paul von Sattel, +7

Oncogene

Neuro-oncologyTumoral PathologyMalignant DiseaseMalignant MeningiomaMedicine +8

Hereditary Inclusion Body Myopathy Maps to Chromosome 9p1-q1

Stella Mitrani‐Rosenbaum, Zohar Argov, Anat Blumenfeld, +2

Human Molecular Genetics

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies

Avigail Beryozkin, Elia Shevah, Adva Kimchi, +20

Scientific Reports

Light-activated guanosinetriphosphatase in Musca eye membranes resembles the prolonged depolarizing afterpotential in photoreceptor cells.

Anat Blumenfeld, Jorge D. Erusalimsky, Ora Heichal, +2

Proceedings of the National Academy of Sciences

Gtpase ActivityMolecular BiologyCryptochromePersistent Gtpase ActivityCellular Physiology +17