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Chaim Jalas
Chaim Jalas
Director of Genetic Resources and Services, Center for Rare Jewish Genetic Disorders
Verified email at feclabs.org
Title
Cited by
Cited by
Year
A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism
S Edvardson, Y Cinnamon, A Ta-Shma, A Shaag, YI Yim, S Zenvirt, ...
PloS one 7 (5), e36458, 2012
3692012
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
EM Scott, A Halees, Y Itan, EG Spencer, Y He, MA Azab, SB Gabriel, ...
Nature genetics 48 (9), 1071-1076, 2016
3382016
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants
AE Shearer, RW Eppsteiner, KT Booth, SS Ephraim, J Gurrola, A Simpson, ...
The American Journal of Human Genetics 95 (4), 445-453, 2014
1672014
Hereditary sensory autonomic neuropathy caused by a mutation in dystonin
S Edvardson, Y Cinnamon, C Jalas, A Shaag, C Maayan, FB Axelrod, ...
Annals of neurology 71 (4), 569-572, 2012
1622012
DGAT1 mutation is linked to a congenital diarrheal disorder
JT Haas, HS Winter, E Lim, A Kirby, B Blumenstiel, M DeFelice, S Gabriel, ...
The Journal of clinical investigation 122 (12), 4680-4684, 2012
1572012
A multicenter, prospective, blinded, nonselection study evaluating the predictive value of an aneuploid diagnosis using a targeted next-generation sequencing–based …
AW Tiegs, X Tao, Y Zhan, C Whitehead, J Kim, B Hanson, E Osman, ...
Fertility and sterility 115 (3), 627-637, 2021
1562021
Genetic loss of SH2B3 in acute lymphoblastic leukemia
A Perez-Garcia, A Ambesi-Impiombato, M Hadler, I Rigo, CA LeDuc, ...
Blood, The Journal of the American Society of Hematology 122 (14), 2425-2432, 2013
1262013
Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment
LJ Francey, LK Conlin, HE Kadesch, D Clark, D Berrodin, Y Sun, ...
American journal of medical genetics Part A 158 (2), 298-308, 2012
1052012
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population
MA Rivas, BE Avila, J Koskela, H Huang, C Stevens, M Pirinen, ...
PLoS genetics 14 (5), e1007329, 2018
922018
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination
N Damseh, A Simonin, C Jalas, JA Picoraro, A Shaag, MT Cho, B Yaacov, ...
Journal of medical genetics 52 (8), 541-547, 2015
792015
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility
A Sazonovs, CR Stevens, GR Venkataraman, K Yuan, B Avila, MT Abreu, ...
Nature genetics 54 (9), 1275-1283, 2022
712022
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis
S Edvardson, A Ashikov, C Jalas, L Sturiale, A Shaag, A Fedick, NR Treff, ...
Journal of medical genetics 50 (11), 733-739, 2013
692013
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter
S Edvardson, V Porcelli, C Jalas, D Soiferman, Y Kellner, A Shaag, ...
Journal of Medical Genetics 50 (4), 240-245, 2013
662013
Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus
A Drielsma, C Jalas, N Simonis, J Désir, N Simanovsky, I Pirson, ...
Journal of medical genetics 49 (11), 708-712, 2012
662012
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
A Saada, S Edvardson, A Shaag, WK Chung, R Segel, C Miller, C Jalas, ...
Journal of inherited metabolic disease 35, 125-131, 2012
662012
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy
WK Chung, K Martin, C Jalas, SR Braddock, J Juusola, KG Monaghan, ...
Journal of medical genetics 52 (9), 627-635, 2015
572015
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis
E Barca, RD Ganetzky, P Potluri, M Juanola-Falgarona, X Gai, D Li, ...
Human Molecular Genetics 27 (19), 3305-3312, 2018
542018
SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts
NR Treff, K Thompson, M Rafizadeh, M Chow, L Morrison, X Tao, ...
Journal of Assisted Reproduction and Genetics 33, 1115-1119, 2016
502016
Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome …
RS Zimmerman, C Jalas, X Tao, AM Fedick, JG Kim, RJ Pepe, ...
Fertility and sterility 105 (2), 286-294, 2016
502016
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa
E Shevach, M Ali, L Mizrahi-Meissonnier, M McKibbin, M El-Asrag, ...
JAMA ophthalmology 133 (3), 312-318, 2015
452015
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