C. Jalas

发表

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

K. Kaestner, A. Brice, S. Lesage, 2012, PloS one.

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Judy H. Cho, Jonathan M Bloom, M. Pirinen, 2016, bioRxiv.

Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter

A. Frumkin, S. Korman, Ann Saada, 2013, Journal of Medical Genetics.

Genetic loss of SH2B3 in acute lymphoblastic leukemia.

W. Chung, A. Ferrando, A. Ambesi-Impiombato, 2013, Blood.

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

T. Harel, Y. Nevo, O. Elpeleg, 2019, European Journal of Human Genetics.

Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.

N. Katsanis, B. Pode-Shakked, Y. Anikster, 2017, American journal of human genetics.

High-Throughput Carrier Screening Using TaqMan Allelic Discrimination

B. Devkota, N. Treff, J. Ekstein, 2013, PloS one.

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria

H. Mandel, D. Goldsher, T. Langer, 2016, Journal of Medical Genetics.

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.

D. Sharon, M. McKibbin, C. Inglehearn, 2015, JAMA ophthalmology.

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

W. Chung, Ann Saada, A. Shaag, 2011, Journal of Inherited Metabolic Disease.

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Judy H. Cho, Jonathan M Bloom, M. Pirinen, 2019, PLoS genetics.

Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients

Ann Saada, A. Shaag, O. Elpeleg, 2015, Journal of Medical Genetics.

A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent

N. Treff, C. Jalas, A. Fedick, 2014, Clinical genetics.

LYMPHOID NEOPLASIA Genetic loss of SH2B3 in acute lymphoblastic leukemia

A. Ferrando, A. Ambesi-Impiombato, G. Basso, 2013 .

Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility

Noor B. Dawany, Judy H. Cho, David T. Okou, 2022, Nature Genetics.

Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination

W. Chung, S. Bale, M. Hediger, 2015, Journal of Medical Genetics.

Identification of a novel pathogenic OTOF variant causative of nonsyndromic hearing loss with high frequency in the Ashkenazi Jewish population

E. Smouha, B. Webb, C. Jalas, 2016 .

A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population

N. Treff, B. Rubin, J. Ekstein, 2015, Clinical genetics.

A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay

S. Edvardson, A. Shaag, O. Elpeleg, 2016, neurogenetics.

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis

L. Sturiale, D. Garozzo, R. Gerardy-Schahn, 2013, Journal of Medical Genetics.

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

Marni J. Falk, W. Chung, H. Hakonarson, 2018, Human molecular genetics.

Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

N. Simonis, M. Abramowicz, I. Pirson, 2012, Journal of Medical Genetics.

Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplification.

Xin Tao, N. Treff, C. Jalas, 2016, Fertility and sterility.

Deficiency of the alkaline ceramidase ACER3 manifests in early childhood by progressive leukodystrophy

B. Webb, S. Edvardson, O. Elpeleg, 2016, Journal of Medical Genetics.

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Judy H. Cho, Jonathan M. Bloom, M. Pirinen, 2016, bioRxiv.

Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

Noor B. Dawany, Judy H. Cho, H. Ostrer, 2021, medRxiv.

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population

S. Savage, L. Edelmann, L. Shi, 2015, Clinical genetics.

Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD

Deanne M. Taylor, N. Treff, C. Jalas, 2014, Journal of Assisted Reproduction and Genetics.

A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews

I. Lerer, S. Edvardson, S. Zenvirt, 2011, American journal of medical genetics. Part A.

Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy

T. Harel, Y. Nevo, O. Elpeleg, 2019, European Journal of Human Genetics.

The concordance rates of an initial trophectoderm biopsy with the rest of the embryo using PGTseq, a targeted next-generation sequencing platform for preimplantation genetic testing-aneuploidy.

C. Jalas, X. Tao, R. Scott, 2021, Fertility and sterility.

On the reproductive capabilities of aneuploid human preimplantation embryos.

A. Capalbo, M. Poli, N. Treff, 2022, American journal of human genetics.

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Thomas L Casavant, Todd E Scheetz, E Ann Black-Ziegelbein, 2014, American journal of human genetics.

SNP array-based analyses of unbalanced embryos as a reference to distinguish between balanced translocation carrier and normal blastocysts

N. Treff, C. Jalas, E. Forman, 2016, Journal of Assisted Reproduction and Genetics.

A multicenter, prospective, blinded, nonselection study evaluating the predictive value of an aneuploid diagnosis using a targeted next-generation sequencing-based preimplantation genetic testing for aneuploidy assay and impact of biopsy.

G. Patounakis, C. Jalas, E. Seli, 2020, Fertility and sterility.

Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

Joseph T. Glessner, I. Krantz, N. Spinner, 2012, American journal of medical genetics. Part A.

A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.

B. Rubin, J. Ekstein, S. Anderson, 2011, Blood cells, molecules & diseases.

Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population

M. Knowles, M. Zariwala, N. Treff, 2014, Molecular genetics & genomic medicine.

A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population

L. Edelmann, B. Webb, L. Liu, 2014, Clinical genetics.

Carrier frequency of two BBS2 mutations in the Ashkenazi population

D. Abeliovich, N. Treff, Y. Krakinovsky, 2014, Clinical genetics.

DGAT1 mutation is linked to a congenital diarrheal disorder.

Robert V Farese, S. Gabriel, M. Daly, 2012, The Journal of clinical investigation.

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

S. Edvardson, A. Shaag, O. Elpeleg, 2012, Annals of Neurology.

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy

W. Chung, M. Shinawi, M. Yudkoff, 2015, Journal of Medical Genetics.

Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene

S. Bale, A. Fattal-Valevski, N. Imamoto, 2015, Journal of Medical Genetics.

A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness

A. Fattal-Valevski, E. Kerem, P. Colas, 2018, American journal of medical genetics. Part A.

When next-generation sequencing-based preimplantation genetic testing for aneuploidy (PGT-A) yields an inconclusive report: diagnostic results and clinical outcomes after re biopsy

C. Jalas, T. Molinaro, R. Scott, 2019, Journal of Assisted Reproduction and Genetics.

Rapid and concurrent comprehensive chromosome screening (CCS) and single gene disorder (SGD) PGD

B. Levy, N. Treff, C. Jalas, 2014 .

Noninvasive preimplantation genetic testing for aneuploidy exhibits high rates of deoxyribonucleic acid amplification failure and poor correlation with results obtained using trophectoderm biopsy.

C. Jalas, E. Seli, K. Hong, 2021, Fertility and sterility.

Recent advances in genome sequencing technologies are improving our understanding of the etiology of human

Stevens, M. Pirinen, M. Rivas, 2016 .

Variant haplophasing by long-read sequencing: proof of concept in preimplantation genetic workup and an opportunity to distinguish balanced and normal embryos.

C. Jalas, Marie Werner, Cheri K. Margolis, 2021, Fertility and Sterility.

High-throughput real-time PCR-based genotyping without DNA purification

N. Treff, C. Jalas, A. Fedick, 2012, BMC Research Notes.

High-throughput real-time PCR-based genotyping without DNA purification

N. Treff, C. Jalas, A. Fedick, 2012, BMC Research Notes.

DGAT1 mutation is linked to a congenital diarrheal disorder.

Robert V Farese, S. Gabriel, M. Daly, 2012, The Journal of clinical investigation.

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

S. Edvardson, A. Shaag, O. Elpeleg, 2012, Annals of neurology.

Genome‐wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

I. Krantz, N. Spinner, J. Glessner, 2012, American journal of medical genetics. Part A.

BIOLOGICAL AND MOLECULAR MECHANISMS BEHIND PLOIDY ABNORMALITIES DETECTED IN BLASTOCYST STAGE EMBRYOS USING AN NGS BASED PGT-A PLATFORM WITH GENOTYPING DATA

A. Capalbo, S. Caroselli, C. Jalas, 2023, Fertility and Sterility.