Khalil Elbedour

Ben-Gurion University of the Negev — Israel

Biochemistry, Genetics and Molecular Biology · Life Sciences

23h-index3.1kcitations34works0.02yr avg
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Research Topics

Genetic and Kidney Cyst Diseases(9), Genetic Syndromes and Imprinting(8), Hearing, Cochlea, Tinnitus, Genetics(6), Hedgehog Signaling Pathway Studies(5), RNA regulation and disease(4)

Publications34 total

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe
American Journal of Medical Genetics Part A·2018· 7 cited
Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase
European Journal of Human Genetics·2013· 58 citedOpen Access
High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2
The American Journal of Human Genetics·2011· 111 citedOpen Access
Congenital Glaucoma
Journal of Glaucoma·2010· 13 cited
Deletion of the first pair of fibronectin type III repeats of the integrin β‐4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients
American Journal of Medical Genetics Part A·2008· 28 cited
An autosomal genome-wide screen for celiac disease in Bedouin families
Genes and Immunity·2007· 3 citedOpen Access
Cardiovascular risk factors in the Bedouin population: management and compliance.
PubMed·2007· 41 cited
Lethal Congenital Contractural Syndrome Type 2 (LCCS2) Is Caused by a Mutation in ERBB3 (Her3), a Modulator of the Phosphatidylinositol-3-Kinase/Akt Pathway
The American Journal of Human Genetics·2007· 69 citedOpen Access
Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway
The American Journal of Human Genetics·2007· 108 citedOpen Access
PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy
The American Journal of Human Genetics·2006· 192 citedOpen Access
Homozygosity mapping with SNP arrays identifies<i>TRIM32</i>, an E3 ubiquitin ligase, as a Bardet–Biedl syndrome gene (<i>BBS11</i>)
Proceedings of the National Academy of Sciences·2006· 423 citedOpen Access
Ocular phenotypes of three genetic variants of Bardet–Biedl syndrome
American Journal of Medical Genetics Part A·2004· 79 cited
COL11A2 mutation associated with autosomal recessive Weissenbacher–Zweymuller syndrome: Molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED)
American Journal of Medical Genetics Part A·2004· 32 cited
Homozygosity mapping of lethal congenital contractural syndrome type 2 (LCCS2) to a 6 cM interval on chromosome 12q13
American Journal of Medical Genetics Part A·2004· 19 cited
Comparative Genomic Analysis Identifies an ADP-Ribosylation Factor–like Gene as the Cause of Bardet-Biedl Syndrome (BBS3)
The American Journal of Human Genetics·2004· 227 citedOpen Access
A new autosomal recessive congenital contractural syndrome in an Israeli Bedouin kindred
American Journal of Medical Genetics Part A·2003· 30 cited
HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease
Human Immunology·2002· 17 cited
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
Nature Genetics·2001· 268 cited
Addendum
Community Genetics·2001Open Access
Refining the DFNB7–DFNB11 deafness locus using intragenic polymorphisms in a novel gene, TMEM2
Gene·2000· 27 cited
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Frequent Co-authors

Rivka Carmi(24), Val C. Sheffield(16), Edwin M. Stone(10), Ohad S. Birk(10), Rivka Ofir(8), Ginat Narkis(7), Daniella Landau(6), Daryl A. Scott(5), C. R. Srikumari Srisailapathy(4), Richard J. Smith(4), Esther Manor(4), Ruth E. Swiderski(3), Darryl Nishimura(3), Terry A. Braun(3), Thomas L. Casavant(3), A. Ramesh(3), Guy Van Camp(3), Geoffrey M. Duyk(3), Ruti Parvari(3), Libe Gradstein(3)