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Page 1
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.
Ni M, Afroze B, Xing C, Pan C, Shao Y, Cai L, Cantarel BL, Pei J, Grishin NV, Hewson S, Knight D, Mahida S, Michel D, Tarnopolsky M, Poduri A, Rotenberg A, Sondheimer N, DeBerardinis RJ. Ni M, et al. Among authors: sondheimer n. Genet Med. 2021 May;23(5):900-908. doi: 10.1038/s41436-020-01071-z. Epub 2021 Jan 20. Genet Med. 2021. PMID: 33473208 Free PMC article.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Lionel AC, et al. Among authors: sondheimer n. Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771251 Free PMC article.
Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR. Costain G, et al. Among authors: sondheimer n. Eur J Hum Genet. 2018 May;26(5):740-744. doi: 10.1038/s41431-018-0114-6. Epub 2018 Feb 16. Eur J Hum Genet. 2018. PMID: 29453418 Free PMC article.
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
Roifman M, Niles KM, MacNeil L, Blaser S, Noor A, Godoy R, van Mieghem T, Ryan G, Seaward G, Sondheimer N, Mercimek-Andrews S, Schulze A, Hewson S, Ovadia A, Chitayat D, Morgen EK, Hojilla C, Kolomietz E, Watkins N, Häberle J, Shannon P. Roifman M, et al. Among authors: sondheimer n. Clin Genet. 2020 Dec;98(6):613-619. doi: 10.1111/cge.13844. Epub 2020 Oct 1. Clin Genet. 2020. PMID: 32888207 Free article.
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.
Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière JB, Faivre L, Thevenon J. Assoum M, et al. Among authors: sondheimer n. Am J Hum Genet. 2016 Dec 1;99(6):1368-1376. doi: 10.1016/j.ajhg.2016.10.009. Epub 2016 Nov 23. Am J Hum Genet. 2016. PMID: 27889060 Free PMC article.
Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians.
Paik K, Lines MA, Chakraborty P, Khangura SD, Latocki M, Al-Hertani W, Brunel-Guitton C, Khan A, Penny B, Rockman-Greenberg C, Rupar CA, Sondheimer N, Tarnopolsky M, Tingley K, Coyle D, Dyack S, Feigenbaum A, Geraghty MT, Gillis J, van Karnebeek CDM, Kronick JB, Little J, Potter M, Siriwardena K, Sparkes R, Turner LA, Wilson K, Buhas D, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Paik K, et al. Among authors: sondheimer n. Can J Neurol Sci. 2019 Nov;46(6):717-726. doi: 10.1017/cjn.2019.240. Can J Neurol Sci. 2019. PMID: 31387656
Homozygous pathogenic variant in BRAT1 associated with nonprogressive cerebellar ataxia.
Mahjoub A, Cihlarova Z, Tétreault M, MacNeil L, Sondheimer N, Caldecott KW, Hanzlikova H, Yoon G; Care4Rare Canada Consortium. Mahjoub A, et al. Among authors: sondheimer n. Neurol Genet. 2019 Sep 4;5(5):e359. doi: 10.1212/NXG.0000000000000359. eCollection 2019 Oct. Neurol Genet. 2019. PMID: 31742228 Free PMC article.
85 results