Recent Publications

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population
  • Author: Fedick AM, Shi L, Jalas C, Treff NR, Ekstein J, Kornreich R, Edelmann L, Mehta L, Savage SA.
  • Journal: Clinical Genetics

This study investigates the carrier frequency of RTEL1 mutations in the Ashkenazi Jewish population. These mutations cause Hoyeraal–Hreidarsson syndrome, a severe form of dyskeratosis congenita...
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Genetic loss of SH2B3 in acute lymphoblastic leukemia
  • Author: AArianne Perez-Garcia, Alberto Ambesi-Impiombato, Michael Hadler, Isaura Rigo, Charles A. LeDuc, Kara Kelly, Chaim Jalas...
  • Journal: Blood

This study reports on two siblings with developmental delay and autoimmunity, one of whom developed acute lymphoblastic leukemia (ALL). Both siblings were identified to have germline...
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Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter
  • Author: Simon Edvardson, Angel Ashikov, Chaim Jalas, Luisa Sturiale, Avraham Shaag, Anastasia Fedick, Nathan R Treff, Domenico Garozzo...
  • Journal: Journal of Medical Genetics

This study reports on the identification of a founder mutation for autosomal recessive osteopetrosis (ARO) in the Ashkenazi Jewish population, with a carrier of frequency of approximately 1 in 350...
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Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis
  • Author: Simon Edvardson, Angel Ashikov, Chaim Jalas, Luisa Sturiale, Avraham Shaag, Anastasia Fedick, Nathan R Treff, Domenico Garozzo...
  • Journal: Journal of Medical Genetics

This study involved a family with eight individuals affected by autism, arthrogryposis, and epilepsy. Using linkage analysis and exome sequencing, we identified deleterious mutations in the SLC35A3 gene...
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A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population
  • Author: Anderson SL, Jalas C, Fedick A, Reid KF, Carpenter TO, Chirnomas D, Treff NR, Ekstein J, Rubin BY...
  • Journal: Clinical Genetics

This paper reports on a mitochondrial disease affecting two families that came to us after years of looking for a diagnosis. We sponsored the research, performed linkage mapping...
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Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants
  • Author: A. Eliot Shearer, Robert W. Eppsteiner, Kevin T. Booth, Sean S. Ephraim, Jose Gurrola, Allen Simpson...
  • Journal: The American Journal of Human Genetics

This study evaluated all previously reported variants for nonsyndromic hearing loss (NSHL) from different ethnic populations, and re-categorized 93 reported pathogenic variants as benign...
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Carrier frequency of two BBS2 mutations in the Ashkenazi population
  • Author: Fedick A, Jalas C, Abeliovich D, Krakinovsky Y, Ekstein J, Ekstein A, Treff NR.
  • Journal: Clinical Genetics

This study evaluated the carrier frequency of BBS2 gene mutations, associated with Bardet–Biedl syndrome (BBS), in individuals of Ashkenazi Jewish descent...
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A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population
  • Author: Webb BD, Brandt T, Liu L, Jalas C, Liao J, Fedick A, Linderman MD, Diaz GA, Kornreich R, Trachtman H, Mehta L...
  • Journal: Clinical Genetics

This paper reports on a mitochondrial disease affecting two families that came to us after years of looking for a diagnosis. We sponsored the research, performed linkage mapping and candidate...
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Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population
  • Author: Anastasia M. Fedick, Chaim Jalas, Nathan R. Treff, Michael R. Knowles, Maimoona A. Zariwala
  • Journal: Molecular Genetics & Genomic Medicine

In this report, the carrier frequencies for mutations in eight genes associated with primary ciliary dyskinesia (PCD) were investigated in the Ashkenazi Jewish population...
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Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
  • Author: Ann Saada, Shimon Edvardson, Chaim Jalas, Orly Elpeleg...
  • Journal: Journal of inherited metabolic disease

This paper reports on a mitochondrial disease affecting two families that came to us after years of looking for a diagnosis. We sponsored the research, performed linkage mapping...
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Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment
  • Author: LJ Francey, LK Conlin, HE Kadesch, D Clark, D Berrodin, Y Sun, J Glessner, H ...
  • Journal: American Journal of Medical Genetics Part A

This project began with a large family in which multiple children suffered hearing loss for no known reason. In a collaboration with scientists at the Children’s Hospital of Philadelphia, we performed SNP studies...
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A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews
  • Author: S Edvardson, C Jalas, A Shaag, S Zenvirt, C Landau, I Lerer, O Elpeleg
  • Journal: American Journal of Medical Genetics Part A 155 (5), 1170-1172

In this paper, we describe a project helping two families who had children with hearing loss. We funded and performed gene mapping and sequencing to identify a homozygous nonsense mutation...
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A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism
  • Author: S Edvardson, Y Cinnamon, A Ta-Shma, A Shaag, YI Yim, S Zenvirt, C Jalas, S ......
  • Journal: PloS one 7 (5), e36458

For this project analyzing a juvenile parkinsonism genetic mutation, we contributed bioinformatics expertise for interpretation and analysis of data.
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Hereditary sensory autonomic neuropathy caused by a mutation in dystonin
  • Author: S Edvardson, Y Cinnamon, C Jalas, A Shaag, C Maayan, FB Axelrod, O Elpeleg
  • Journal: Annals of neurology 71 (4), 569-572

We worked with two families who lost children to this lethal but unknown disease. With our partners at Hadassah Medical Center, we identified a novel mutation and fully characterized this new disease...
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DGAT1 mutation is linked to a congenital diarrheal disorder
  • Author: S Edvardson, Y Cinnamon, A Ta-Shma, A Shaag, YI Yim, S Zenvirt, C Jalas, S ......
  • Journal: The Journal of Clinical Investigation 122 (12), 4680

In this case, we worked with a family with children who had a severe malnutrition disorder and could not absorb food. We partnered with scientists and clinicians at Hadassah Medical Center in Israel...
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Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus
  • Author: A Drielsma, C Jalas, N Simonis, J Désir, N Simanovsky, I Pirson, O Elpeleg ...
  • Journal: Journal of medical genetics 49 (11), 708-712

For this project we helped a large family in which many children were born with a severe fluid buildup in their brains, leading to varying degrees of mental impairment...
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A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi population
  • Author: C Jalas, SL Anderson, T Laufer, K Martimucci, A Bulanov, X Xie, J Ekstein ...
  • Journal: Blood Cells, Molecules, and Diseases 47 (1), 79-83

This case involved a bleeding disorder whose mutation was established but was not understood to be common in the Ashkenazi population. Working with many affected families, we sponsored...
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A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi descent.

Zellweger syndrome is known to be caused by numerous mutations that occur in at least 12 of the PEX genes. While phenotypes vary, many are severely debilitating, and death can result in affected newborns..
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