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Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.
Yap ZY, Park YH, Wortmann SB, Gunning AC, Ezer S, Lee S, Duraine L, Wilichowski E, Wilson K, Mayr JA, Wagner M, Li H, Kini U, Black ED, Monaghan KG, Lupski JR, Ellard S, Westphal DS, Harel T, Yoon WH. Yap ZY, et al. Among authors: harel t. Genome Med. 2021 Apr 12;13(1):55. doi: 10.1186/s13073-021-00873-3. Genome Med. 2021. PMID: 33845882 Free PMC article.
Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
Pehlivan D, Coban Akdemir Z, Karaca E, Bayram Y, Jhangiani S, Yildiz EP, Muzny D, Uluc K, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; Elcioglu N, Lupski JR, Harel T. Pehlivan D, et al. Among authors: harel t. Hum Genet. 2015 Jun;134(6):671-3. doi: 10.1007/s00439-015-1548-3. Epub 2015 Apr 17. Hum Genet. 2015. PMID: 25893792 Free PMC article.
The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.
Pehlivan D, Beck CR, Okamoto Y, Harel T, Akdemir ZH, Jhangiani SN, Withers MA, Goksungur MT, Carvalho CM, Czesnik D, Gonzaga-Jauregui C, Wiszniewski W, Muzny DM, Gibbs RA, Rautenstrauss B, Sereda MW, Lupski JR. Pehlivan D, et al. Among authors: harel t. Genet Med. 2016 May;18(5):443-51. doi: 10.1038/gim.2015.124. Epub 2015 Sep 17. Genet Med. 2016. PMID: 26378787 Free PMC article.
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Yuan B, Harel T, Gu S, Liu P, Burglen L, Chantot-Bastaraud S, Gelowani V, Beck CR, Carvalho CM, Cheung SW, Coe A, Malan V, Munnich A, Magoulas PL, Potocki L, Lupski JR. Yuan B, et al. Among authors: harel t. Am J Hum Genet. 2015 Nov 5;97(5):691-707. doi: 10.1016/j.ajhg.2015.10.003. Am J Hum Genet. 2015. PMID: 26544804 Free PMC article.
POGZ truncating alleles cause syndromic intellectual disability.
White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR. White J, et al. Among authors: harel t. Genome Med. 2016 Jan 6;8(1):3. doi: 10.1186/s13073-015-0253-0. Genome Med. 2016. PMID: 26739615 Free PMC article.
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Harel T, Yesil G, Bayram Y, Coban-Akdemir Z, Charng WL, Karaca E, Al Asmari A, Eldomery MK, Hunter JV, Jhangiani SN, Rosenfeld JA, Pehlivan D, El-Hattab AW, Saleh MA, LeDuc CA, Muzny D, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; Gibbs RA, Chung WK, Yang Y, Belmont JW, Lupski JR. Harel T, et al. Am J Hum Genet. 2016 Mar 3;98(3):562-570. doi: 10.1016/j.ajhg.2016.01.011. Am J Hum Genet. 2016. PMID: 26942288 Free PMC article.
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans.
Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y. Vetrini F, et al. Among authors: harel t. Am J Hum Genet. 2016 Oct 6;99(4):886-893. doi: 10.1016/j.ajhg.2016.07.011. Epub 2016 Sep 8. Am J Hum Genet. 2016. PMID: 27616478 Free PMC article.
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics; Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR. Harel T, et al. Am J Hum Genet. 2016 Oct 6;99(4):831-845. doi: 10.1016/j.ajhg.2016.08.007. Epub 2016 Sep 15. Am J Hum Genet. 2016. PMID: 27640307 Free PMC article.
112 results