Harel T - Search Results

1

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size.

Kadir R, Harel T, Markus B, Perez Y, Bakhrat A, Cohen I, Volodarsky M, Feintsein-Linial M, Chervinski E, Zlotogora J, Sivan S, Birnbaum RY, Abdu U, Shalev S, Birk OS. Kadir R, et al. Among authors: harel t. PLoS Genet. 2016 Mar 23;12(3):e1005919. doi: 10.1371/journal.pgen.1005919. eCollection 2016 Mar. PLoS Genet. 2016. PMID: 27008544 Free PMC article.

2

USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.

Koch I, Slovik M, Zhang Y, Liu B, Rennie M, Konz E, Cogne B, Daana M, Davids L, Diets IJ, Gold NB, Holtz AM, Isidor B, Mor-Shaked H, Neira Fresneda J, Niederhoffer KY, Nizon M, Pfundt R, Simon M, Stegmann A, Guillen Sacoto MJ, Wevers M, Barakat TS, Yanovsky-Dagan S, Atanassov BS, Toth R, Gao C, Bustos F, Harel T. Koch I, et al. Among authors: harel t. Life Sci Alliance. 2024 Jan 5;7(3):e202302258. doi: 10.26508/lsa.202302258. Print 2024 Mar. Life Sci Alliance. 2024. PMID: 38182161 Free PMC article.

3

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bi… See abstract for full author list ➔ Küry S, et al. Among authors: harel t. medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174. medRxiv. 2024. PMID: 38293138 Free PMC article. Preprint.

4

De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.

Harel T, Spicher C, Scheer E, Buchan JG, Cech J, Folland C, Frey T, Holtz AM, Innes AM, Keren B, Macken WL, Marcelis C, Otten CE, Paolucci SA, Petit F, Pfundt R, Pitceathly RDS, Rauch A, Ravenscroft G, Sanchev R, Steindl K, Tammer F, Tyndall A, Devys D, Vincent SD, Elpeleg O, Tora L. Harel T, et al. Brain. 2024 Aug 1;147(8):2732-2744. doi: 10.1093/brain/awae160. Brain. 2024. PMID: 38753057

5

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.

Harel T, Goldberg Y, Shalev SA, Chervinski I, Ofir R, Birk OS. Harel T, et al. Eur J Hum Genet. 2004 Jan;12(1):38-43. doi: 10.1038/sj.ejhg.5201087. Eur J Hum Genet. 2004. PMID: 14523375

6

CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.

Bar-Yosef U, Abuelaish I, Harel T, Hendler N, Ofir R, Birk OS. Bar-Yosef U, et al. Among authors: harel t. Hum Genet. 2004 Sep;115(4):302-9. doi: 10.1007/s00439-004-1154-2. Hum Genet. 2004. PMID: 15257456

7

COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED).

Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J, Gradstein L, Lifshitz T, Ofir R, Elbedour K, Birk OS. Harel T, et al. Am J Med Genet A. 2005 Jan 1;132A(1):33-5. doi: 10.1002/ajmg.a.30371. Am J Med Genet A. 2005. PMID: 15558753

8

Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred.

Ifergane G, Al-Sayed I, Birk O, Harel T, Wirguin I. Ifergane G, et al. Among authors: harel t. Eur J Neurol. 2007 Mar;14(3):305-8. doi: 10.1111/j.1468-1331.2006.01657.x. Eur J Neurol. 2007. PMID: 17355552

9

Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data.

Zlotogora J, Harel T, Meiner V. Zlotogora J, et al. Among authors: harel t. Eur J Med Genet. 2023 Jun;66(6):104765. doi: 10.1016/j.ejmg.2023.104765. Epub 2023 Apr 6. Eur J Med Genet. 2023. PMID: 37028505 Review.

10

Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.

Rips J, Halstuk O, Fuchs A, Lang Z, Sido T, Gershon-Naamat S, Abu-Libdeh B, Edvardson S, Salah S, Breuer O, Hadhud M, Eden S, Simon I, Slae M, Damseh NS, Abu-Libdeh A, Eskin-Schwartz M, Birk OS, Varga J, Schueler-Furman O, Rosenbluh C, Elpeleg O, Yanovsky-Dagan S, Mor-Shaked H, Harel T. Rips J, et al. Among authors: harel t. Genet Med. 2024 Apr;26(4):101068. doi: 10.1016/j.gim.2024.101068. Epub 2024 Jan 6. Genet Med. 2024. PMID: 38193396

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