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Items: 40

1.

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

Neal SA, Sun L, Jalas C, Morin SJ, Molinaro TA, Scott RT Jr.

J Assist Reprod Genet. 2019 Aug 30. doi: 10.1007/s10815-019-01550-6. [Epub ahead of print]

PMID:
31471748
2.

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

Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, Levine AP, Schiff E, Pontikos N, Weisburd B, Lek M, Karczewski KJ, Bloom J, Minikel EV, Petersen BS, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J; International IBD Genetics Consortium; NIDDK IBD Genetics Consortium; T2D-GENES Consortium, Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, Jostins L, Anderson CA, Barrett JC, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DPB, Daly MJ.

PLoS Genet. 2019 May 30;15(5):e1008190. doi: 10.1371/journal.pgen.1008190. eCollection 2019 May.

3.

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

Sheffer R, Gur M, Brooks R, Salah S, Daana M, Fraenkel N, Eisenstein E, Rabie M, Nevo Y, Jalas C, Elpeleg O, Edvardson S, Harel T.

Eur J Hum Genet. 2019 Sep;27(9):1419-1426. doi: 10.1038/s41431-019-0400-y. Epub 2019 Apr 11.

PMID:
30976113
4.

Molecular Testing for Preimplantation Genetic Diagnosis of Single Gene Disorders.

Zimmerman RS, Eccles J, Jalas C, Treff NR, Scott RT Jr.

Methods Mol Biol. 2019;1885:61-71. doi: 10.1007/978-1-4939-8889-1_4.

PMID:
30506190
5.

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

Barca E, Ganetzky RD, Potluri P, Juanola-Falgarona M, Gai X, Li D, Jalas C, Hirsch Y, Emmanuele V, Tadesse S, Ziosi M, Akman HO, Chung WK, Tanji K, McCormick EM, Place E, Consugar M, Pierce EA, Hakonarson H, Wallace DC, Hirano M, Falk MJ.

Hum Mol Genet. 2018 Oct 1;27(19):3305-3312. doi: 10.1093/hmg/ddy231.

PMID:
29917077
6.

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

Rivas MA, Avila BE, Koskela J, Huang H, Stevens C, Pirinen M, Haritunians T, Neale BM, Kurki M, Ganna A, Graham D, Glaser B, Peter I, Atzmon G, Barzilai N, Levine AP, Schiff E, Pontikos N, Weisburd B, Lek M, Karczewski KJ, Bloom J, Minikel EV, Petersen BS, Beaugerie L, Seksik P, Cosnes J, Schreiber S, Bokemeyer B, Bethge J; International IBD Genetics Consortium; NIDDK IBD Genetics Consortium; T2D-GENES Consortium, Heap G, Ahmad T, Plagnol V, Segal AW, Targan S, Turner D, Saavalainen P, Farkkila M, Kontula K, Palotie A, Brant SR, Duerr RH, Silverberg MS, Rioux JD, Weersma RK, Franke A, Jostins L, Anderson CA, Barrett JC, MacArthur DG, Jalas C, Sokol H, Xavier RJ, Pulver A, Cho JH, McGovern DPB, Daly MJ.

PLoS Genet. 2018 May 24;14(5):e1007329. doi: 10.1371/journal.pgen.1007329. eCollection 2018 May. Erratum in: PLoS Genet. 2019 May 30;15(5):e1008190.

7.

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

Guen VJ, Edvardson S, Fraenkel ND, Fattal-Valevski A, Jalas C, Anteby I, Shaag A, Dor T, Gillis D, Kerem E, Lees JA, Colas P, Elpeleg O.

Am J Med Genet A. 2018 Jan;176(1):92-98. doi: 10.1002/ajmg.a.38506. Epub 2017 Nov 12.

8.

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

Ta-Shma A, Khan TN, Vivante A, Willer JR, Matak P, Jalas C, Pode-Shakked B, Salem Y, Anikster Y, Hildebrandt F, Katsanis N, Elpeleg O, Davis EE.

Am J Hum Genet. 2017 Apr 6;100(4):666-675. doi: 10.1016/j.ajhg.2017.02.007. Epub 2017 Mar 16.

9.

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

Fedick AM, Jalas C, Swaroop A, Smouha EE, Webb BD.

Appl Clin Genet. 2016 Aug 31;9:141-6. doi: 10.2147/TACG.S113828. eCollection 2016.

10.

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

Edvardson S, Elbaz-Alon Y, Jalas C, Matlock A, Patel K, Labbé K, Shaag A, Jackman JE, Elpeleg O.

Neurogenetics. 2016 Oct;17(4):219-225. Epub 2016 Jun 15.

PMID:
27307223
11.

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

Treff NR, Thompson K, Rafizadeh M, Chow M, Morrison L, Tao X, Garnsey H, Reda CV, Metzgar TL, Neal S, Jalas C, Scott RT Jr, Forman EJ.

J Assist Reprod Genet. 2016 Aug;33(8):1115-9. doi: 10.1007/s10815-016-0734-0. Epub 2016 May 30.

12.

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

Mandel H, Saita S, Edvardson S, Jalas C, Shaag A, Goldsher D, Vlodavsky E, Langer T, Elpeleg O.

J Med Genet. 2016 Oct;53(10):690-6. doi: 10.1136/jmedgenet-2016-103922. Epub 2016 May 12.

PMID:
27208207
13.

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

Edvardson S, Yi JK, Jalas C, Xu R, Webb BD, Snider J, Fedick A, Kleinman E, Treff NR, Mao C, Elpeleg O.

J Med Genet. 2016 Jun;53(6):389-96. doi: 10.1136/jmedgenet-2015-103457. Epub 2016 Jan 20.

14.

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

Zimmerman RS, Jalas C, Tao X, Fedick AM, Kim JG, Pepe RJ, Northrop LE, Scott RT Jr, Treff NR.

Fertil Steril. 2016 Feb;105(2):286-94. doi: 10.1016/j.fertnstert.2015.10.003. Epub 2015 Oct 23.

PMID:
26602983
15.

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

Edvardson S, Kose S, Jalas C, Fattal-Valevski A, Watanabe A, Ogawa Y, Mamada H, Fedick AM, Ben-Shachar S, Treff NR, Shaag A, Bale S, Gärtner J, Imamoto N, Elpeleg O.

J Med Genet. 2016 Feb;53(2):132-7. doi: 10.1136/jmedgenet-2015-103232. Epub 2015 Nov 6.

PMID:
26545878
16.

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

Edvardson S, Gerhard F, Jalas C, Lachmann J, Golan D, Saada A, Shaag A, Ungermann C, Elpeleg O.

J Med Genet. 2015 Nov;52(11):749-53. doi: 10.1136/jmedgenet-2015-103239. Epub 2015 Aug 25.

PMID:
26307567
17.

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

Chung WK, Martin K, Jalas C, Braddock SR, Juusola J, Monaghan KG, Warner B, Franks S, Yudkoff M, Lulis L, Rhodes RH, Prasad V, Torti E, Cho MT, Shinawi M.

J Med Genet. 2015 Sep;52(9):627-35. doi: 10.1136/jmedgenet-2015-103140. Epub 2015 Jul 16.

PMID:
26185144
18.

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

Damseh N, Simonin A, Jalas C, Picoraro JA, Shaag A, Cho MT, Yaacov B, Neidich J, Al-Ashhab M, Juusola J, Bale S, Telegrafi A, Retterer K, Pappas JG, Moran E, Cappell J, Anyane Yeboa K, Abu-Libdeh B, Hediger MA, Chung WK, Elpeleg O, Edvardson S.

J Med Genet. 2015 Aug;52(8):541-7. doi: 10.1136/jmedgenet-2015-103104. Epub 2015 Jun 3.

PMID:
26041762
19.

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

Fedick AM, Jalas C, Treff NR, Knowles MR, Zariwala MA.

Mol Genet Genomic Med. 2015 Mar;3(2):137-42. doi: 10.1002/mgg3.124. Epub 2014 Dec 6.

20.

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

Shevach E, Ali M, Mizrahi-Meissonnier L, McKibbin M, El-Asrag M, Watson CM, Inglehearn CF, Ben-Yosef T, Blumenfeld A, Jalas C, Banin E, Sharon D.

JAMA Ophthalmol. 2015 Mar;133(3):312-8. doi: 10.1001/jamaophthalmol.2014.5251.

PMID:
25541840
21.

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

Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ.

Am J Hum Genet. 2014 Oct 2;95(4):445-53. doi: 10.1016/j.ajhg.2014.09.001. Epub 2014 Sep 25.

22.

Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.

Gueye NA, Jalas C, Tao X, Taylor D, Scott RT Jr, Treff NR.

J Assist Reprod Genet. 2014 Sep;31(9):1227-30. doi: 10.1007/s10815-014-0298-9. Epub 2014 Aug 7. No abstract available.

23.

Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.

Fedick AM, Shi L, Jalas C, Treff NR, Ekstein J, Kornreich R, Edelmann L, Mehta L, Savage SA.

Clin Genet. 2015 Aug;88(2):177-81. doi: 10.1111/cge.12459. Epub 2014 Sep 5.

PMID:
25047097
24.

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

Anderson SL, Jalas C, Fedick A, Reid KF, Carpenter TO, Chirnomas D, Treff NR, Ekstein J, Rubin BY.

Clin Genet. 2015 Jul;88(1):74-9. doi: 10.1111/cge.12448. Epub 2014 Jul 31.

PMID:
24989235
25.

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.

Edvardson S, Ashikov A, Jalas C, Sturiale L, Shaag A, Fedick A, Treff NR, Garozzo D, Gerardy-Schahn R, Elpeleg O.

J Med Genet. 2013 Nov;50(11):733-9. doi: 10.1136/jmedgenet-2013-101753. Epub 2013 Sep 12.

PMID:
24031089
26.

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

Webb BD, Brandt T, Liu L, Jalas C, Liao J, Fedick A, Linderman MD, Diaz GA, Kornreich R, Trachtman H, Mehta L, Edelmann L.

Clin Genet. 2014 Aug;86(2):155-60. doi: 10.1111/cge.12247. Epub 2013 Sep 2.

PMID:
23927549
27.

Genetic loss of SH2B3 in acute lymphoblastic leukemia.

Perez-Garcia A, Ambesi-Impiombato A, Hadler M, Rigo I, LeDuc CA, Kelly K, Jalas C, Paietta E, Racevskis J, Rowe JM, Tallman MS, Paganin M, Basso G, Tong W, Chung WK, Ferrando AA.

Blood. 2013 Oct 3;122(14):2425-32. doi: 10.1182/blood-2013-05-500850. Epub 2013 Aug 1.

28.

Carrier frequency of two BBS2 mutations in the Ashkenazi population.

Fedick A, Jalas C, Abeliovich D, Krakinovsky Y, Ekstein J, Ekstein A, Treff NR.

Clin Genet. 2014 Jun;85(6):578-82. doi: 10.1111/cge.12231. Epub 2013 Jul 28.

PMID:
23829372
29.

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

Fedick A, Jalas C, Treff NR.

Clin Genet. 2014 Apr;85(4):343-6. doi: 10.1111/cge.12170. Epub 2013 May 3.

PMID:
23590336
30.

High-throughput carrier screening using TaqMan allelic discrimination.

Fedick A, Su J, Jalas C, Northrop L, Devkota B, Ekstein J, Treff NR.

PLoS One. 2013;8(3):e59722. doi: 10.1371/journal.pone.0059722. Epub 2013 Mar 26.

31.

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

Edvardson S, Porcelli V, Jalas C, Soiferman D, Kellner Y, Shaag A, Korman SH, Pierri CL, Scarcia P, Fraenkel ND, Segel R, Schechter A, Frumkin A, Pines O, Saada A, Palmieri L, Elpeleg O.

J Med Genet. 2013 Apr;50(4):240-5. doi: 10.1136/jmedgenet-2012-101485. Epub 2013 Feb 7.

PMID:
23393310
32.

DGAT1 mutation is linked to a congenital diarrheal disorder.

Haas JT, Winter HS, Lim E, Kirby A, Blumenstiel B, DeFelice M, Gabriel S, Jalas C, Branski D, Grueter CA, Toporovski MS, Walther TC, Daly MJ, Farese RV Jr.

J Clin Invest. 2012 Dec;122(12):4680-4. doi: 10.1172/JCI64873. Epub 2012 Nov 1.

33.

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

Fedick A, Su J, Jalas C, Treff NR.

BMC Res Notes. 2012 Oct 19;5:573. doi: 10.1186/1756-0500-5-573.

34.

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

Drielsma A, Jalas C, Simonis N, Désir J, Simanovsky N, Pirson I, Elpeleg O, Abramowicz M, Edvardson S.

J Med Genet. 2012 Nov;49(11):708-12. doi: 10.1136/jmedgenet-2012-101190. Epub 2012 Oct 5.

PMID:
23042809
35.

A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism.

Edvardson S, Cinnamon Y, Ta-Shma A, Shaag A, Yim YI, Zenvirt S, Jalas C, Lesage S, Brice A, Taraboulos A, Kaestner KH, Greene LE, Elpeleg O.

PLoS One. 2012;7(5):e36458. doi: 10.1371/journal.pone.0036458. Epub 2012 May 1.

36.

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

Edvardson S, Cinnamon Y, Jalas C, Shaag A, Maayan C, Axelrod FB, Elpeleg O.

Ann Neurol. 2012 Apr;71(4):569-72. doi: 10.1002/ana.23524.

PMID:
22522446
37.

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

Francey LJ, Conlin LK, Kadesch HE, Clark D, Berrodin D, Sun Y, Glessner J, Hakonarson H, Jalas C, Landau C, Spinner NB, Kenna M, Sagi M, Rehm HL, Krantz ID.

Am J Med Genet A. 2012 Feb;158A(2):298-308. doi: 10.1002/ajmg.a.34391. Epub 2011 Dec 6.

38.

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

Saada A, Edvardson S, Shaag A, Chung WK, Segel R, Miller C, Jalas C, Elpeleg O.

J Inherit Metab Dis. 2012 Jan;35(1):125-31. doi: 10.1007/s10545-011-9348-y. Epub 2011 May 24.

PMID:
21607760
39.

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

Jalas C, Anderson SL, Laufer T, Martimucci K, Bulanov A, Xie X, Ekstein J, Rubin BY.

Blood Cells Mol Dis. 2011 Jun 15;47(1):79-83. doi: 10.1016/j.bcmd.2011.03.006. Epub 2011 Apr 13.

PMID:
21489838
40.

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

Edvardson S, Jalas C, Shaag A, Zenvirt S, Landau C, Lerer I, Elpeleg O.

Am J Med Genet A. 2011 May;155A(5):1170-2. doi: 10.1002/ajmg.a.33972. Epub 2011 Apr 4.

PMID:
21465660

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