Sagi-Dain L - Search Results

1

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia.

Kuipers DJS, Mandemakers W, Lu CS, Olgiati S, Breedveld GJ, Fevga C, Tadic V, Carecchio M, Osterman B, Sagi-Dain L, Wu-Chou YH, Chen CC, Chang HC, Wu SL, Yeh TH, Weng YH, Elia AE, Panteghini C, Marotta N, Pauly MG, Kühn AA, Volkmann J, Lace B, Meijer IA, Kandaswamy K, Quadri M, Garavaglia B, Lohmann K, Bauer P, Mencacci NE, Lubbe SJ, Klein C, Bertoli-Avella AM, Bonifati V. Kuipers DJS, et al. Ann Neurol. 2021 Mar;89(3):485-497. doi: 10.1002/ana.25973. Epub 2020 Dec 15. Ann Neurol. 2021. PMID: 33236446 Free PMC article.

2

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

van der Knoop MM, Maroofian R, Fukata Y, van Ierland Y, Karimiani EG, Lehesjoki AE, Muona M, Paetau A, Miyazaki Y, Hirano Y, Selim L, de França M, Fock RA, Beetz C, Ruivenkamp CAL, Eaton AJ, Morneau-Jacob FD, Sagi-Dain L, Shemer-Meiri L, Peleg A, Haddad-Halloun J, Kamphuis DJ, Peeters-Scholte CMPCD, Kurul SH, Horvath R, Lochmüller H, Murphy D, Waldmüller S, Spranger S, Overberg D, Muir AM, Rad A, Vona B, Abdulwahad F, Maddirevula S, Povolotskaya IS, Voinova VY, Gowda VK, Srinivasan VM, Alkuraya FS, Mefford HC, Alfadhel M, Haack TB, Striano P, Severino M, Fukata M, Hilhorst-Hofstee Y, Houlden H. van der Knoop MM, et al. Brain. 2022 Jul 29;145(7):2301-2312. doi: 10.1093/brain/awac116. Brain. 2022. PMID: 35373813 Free PMC article.

3

Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2U.

Sagi-Dain L, Shemer L, Zelnik N, Zoabi Y, Orit S, Adir V, Schif A, Peleg A. Sagi-Dain L, et al. J Peripher Nerv Syst. 2018 Jun;23(2):138-142. doi: 10.1111/jns.12264. Epub 2018 May 9. J Peripher Nerv Syst. 2018. PMID: 29582526

4

A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literature.

Sagi-Dain L, Kurolap A, Ilivitzki A, Mory A, Paperna T; Regeneron Genetics Center; Kedar R, Gonzaga-Jauregui C, Peleg A, Baris Feldman H. Sagi-Dain L, et al. Am J Med Genet A. 2020 Jan;182(1):205-212. doi: 10.1002/ajmg.a.61404. Epub 2019 Nov 7. Am J Med Genet A. 2020. PMID: 31697046

5

A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.

Peleg A, Kurolap A, Sagi-Dain L, Larom-Khan G, Adir V, Mory A, Paperna T, Shuldiner AR, Gonzaga-Jauregui C, Adir N, Baris Feldman H, Wollstein R. Peleg A, et al. Clin Dysmorphol. 2021 Apr 1;30(2):71-75. doi: 10.1097/MCD.0000000000000342. Clin Dysmorphol. 2021. PMID: 32925198

6

Clinical utility of expanded non-invasive prenatal screening compared with chromosomal microarray analysis in over 8000 pregnancies without major structural anomaly.

Maya I, Salzer Sheelo L, Brabbing-Goldstein D, Matar R, Kahana S, Agmon-Fishman I, Klein C, Gurevitch M, Basel-Salmon L, Sagi-Dain L. Maya I, et al. Ultrasound Obstet Gynecol. 2023 Jun;61(6):698-704. doi: 10.1002/uog.26177. Ultrasound Obstet Gynecol. 2023. PMID: 36776119

7

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network; Zenker M, Lee B, Biesecker LG. Johnston JJ, et al. Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22. Genet Med. 2018. PMID: 29469822 Free PMC article.

8

Correction to: Combination of early pushing with extended second stage increases the rates of spontaneous vaginal deliveries, but might be associated with adverse maternal and neonatal outcomes.

Masri A, Abu-Nasra L, Kedar R, Damti A, Bardicef M, Kugelman N, Sagi-Dain L. Masri A, et al. Arch Gynecol Obstet. 2022 Jan;305(1):47. doi: 10.1007/s00404-021-06141-4. Arch Gynecol Obstet. 2022. PMID: 34245342 No abstract available.

9

Genetic counseling of high-risk isolated populations: A worldwide challenge.

Sagi-Dain L, Weissman I, Cohen-Kfir N, Kalfon L, Edri N, Shasha Lavski H, Peleg A, Falik-Zaccai TC. Sagi-Dain L, et al. Birth Defects Res. 2020 Mar 1;112(4):316-320. doi: 10.1002/bdr2.1633. Birth Defects Res. 2020. PMID: 32115902

10

A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.

Kessel I, German A, Peleg A; Regeneron Genetics Center; Gonzaga-Jauregui C, Paperna T, Ekhilevitch N, Kurolap A, Baris Feldman H, Sagi-Dain L. Kessel I, et al. Am J Med Genet A. 2021 Oct;185(10):3161-3166. doi: 10.1002/ajmg.a.62401. Epub 2021 Jun 19. Am J Med Genet A. 2021. PMID: 34145742

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