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Rivka Carmi | doi.page

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Rivka Carmi

Ben-Gurion University of the Negev(IL)

Publications by Year

Research Areas

Genetic and Kidney Cyst Diseases, Genetic Syndromes and Imprinting, Prenatal Screening and Diagnostics, Congenital Anomalies and Fetal Surgery, Genetics and Neurodevelopmental Disorders

Most-Cited Works

→ Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis(1997)1,462 cited
→ Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia(2002)562 cited
→ Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate(2000)501 cited
→ Homozygosity mapping with SNP arrays identifiesTRIM32, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (BBS11)(2006)426 cited
→ Quantifying center bias of observers in free viewing of dynamic natural scenes(2009)369 cited
→ Bbs2 -null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin(2004)366 cited
→

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

(2002)

354 cited

→ Identification of the gene that, when mutated, causes the human obesity syndrome BBS4(2001)269 cited

→ Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss(1998)251 cited

→ Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)(2004)227 cited