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Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice.
Martin EMMA, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL, Iyer KR, Greasby JA, Ip E, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai Y, Lebenthal Y, Gharavi AG, Krzemień GG, Miklaszewska M, Steiner RD, Raggio C, Blank R, Baris Feldman H, Milo Rasouly H, Sobreira NLM, Jobling R, Gordon CT, Giampietro PF, Dunwoodie SL, Chapman G. Martin EMMA, et al. Among authors: baris feldman h. Hum Mol Genet. 2020 Dec 4;29(22):3662-3678. doi: 10.1093/hmg/ddaa258. Hum Mol Genet. 2020. PMID: 33276377 Free PMC article.
Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype.
Paperna T, Sharon-Shwartzman N, Kurolap A, Goldberg Y, Moustafa N, Carasso Y, Feinstien M, Mory A, Reznick-Levi G, Gonzaga-Jauregui C, Shuldiner AR, Basel-Salmon L, Ofran Y, Half EE, Baris Feldman H. Paperna T, et al. Among authors: baris feldman h. J Med Genet. 2020 Jul;57(7):500-504. doi: 10.1136/jmedgenet-2018-105824. Epub 2019 Mar 11. J Med Genet. 2020. PMID: 30858171
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4.
Hershkovitz T, Kurolap A, Gonzaga-Jauregui C, Paperna T, Mory A, Wolf SE; Regeneron Genetics Center; Overton JD, Shuldiner AR, Saada A, Mandel H, Baris Feldman H. Hershkovitz T, et al. Among authors: baris feldman h. J Hum Genet. 2019 Jun;64(6):589-595. doi: 10.1038/s10038-019-0592-6. Epub 2019 Mar 22. J Hum Genet. 2019. PMID: 30903008
A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes.
Hershkovitz T, Kurolap A, Tal G, Paperna T, Mory A, Staples J, Brigatti KW; Regeneron Genetics Center; Gonzaga-Jauregui C, Dumin E, Saada A, Mandel H, Baris Feldman H. Hershkovitz T, et al. Among authors: baris feldman h. Mol Genet Metab Rep. 2020 Dec 30;26:100699. doi: 10.1016/j.ymgmr.2020.100699. eCollection 2021 Mar. Mol Genet Metab Rep. 2020. PMID: 33457206 Free PMC article.
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.
Samra N, Toubiana S, Yttervik H, Tzur-Gilat A, Morani I, Itzkovich C, Giladi L, Abu Jabal K, Cao JZ, Godley LA, Mory A, Baris Feldman H, Tveten K, Selig S, Weiss K. Samra N, et al. Among authors: baris feldman h. J Hum Genet. 2021 Nov;66(11):1101-1112. doi: 10.1038/s10038-021-00931-z. Epub 2021 May 13. J Hum Genet. 2021. PMID: 33980986
Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.
Ponger P, Kurolap A, Lerer I, Dagan J, Chai Gadot C, Mory A, Wilnai Y, Oniashvili N, Giladi N, Gurevich T, Meiner V, Lossos A, Baris Feldman H. Ponger P, et al. Among authors: baris feldman h. J Mol Neurosci. 2022 Aug;72(8):1715-1723. doi: 10.1007/s12031-022-02035-5. Epub 2022 Jun 8. J Mol Neurosci. 2022. PMID: 35676594
55 results