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Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Johannesen KM, Iqbal S, Guazzi M, Mohammadi NA, Pérez-Palma E, Schaefer E, De Saint Martin A, Abiwarde MT, McTague A, Pons R, Piton A, Kurian MA, Ambegaonkar G, Firth H, Sanchis-Juan A, Deprez M, Jansen K, De Waele L, Briltra EH, Verbeek NE, van Kempen M, Fazeli W, Striano P, Zara F, Visser G, Braakman HMH, Haeusler M, Elbracht M, Vaher U, Smol T, Lemke JR, Platzer K, Kennedy J, Klein KM, Au PYB, Smyth K, Kaplan J, Thomas M, Dewenter MK, Dinopoulos A, Campbell AJ, Lal D, Lederer D, Liao VWY, Ahring PK, Møller RS, Gardella E. Johannesen KM, et al. Among authors: elbracht m. Genet Med. 2022 Mar;24(3):681-693. doi: 10.1016/j.gim.2021.11.004. Epub 2021 Dec 7. Genet Med. 2022. PMID: 34906499 Free article.
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Vitobello A, Mazel B, Lelianova VG, Zangrandi A, Petitto E, Suckling J, Salpietro V, Meyer R, Elbracht M, Kurth I, Eggermann T, Benlaouer O, Lall G, Tonevitsky AG, Scott DA, Chan KM, Rosenfeld JA, Nambot S, Safraou H, Bruel AL, Denommé-Pichon AS, Tran Mau-Them F, Philippe C, Duffourd Y, Guo H, Petersen AK, Granger L, Crunk A, Bayat A, Striano P, Zara F, Scala M, Thomas Q, Delahaye A, de Sainte Agathe JM, Buratti J, Kozlov SV, Faivre L, Thauvin-Robinet C, Ushkaryov Y. Vitobello A, et al. Among authors: elbracht m. Am J Hum Genet. 2022 Aug 4;109(8):1436-1457. doi: 10.1016/j.ajhg.2022.06.011. Epub 2022 Jul 30. Am J Hum Genet. 2022. PMID: 35907405 Free PMC article.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Brunet T, Zott B, Lieftüchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Hüning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor RW, McFarland R, Devlin A, Mihaljević M, Barišić N, Rohlfs M, Wilfling S, Sondheimer N, Hewson S, Marinakis NM, Kosma K, Traeger-Synodinos J, Elbracht M, Begemann M, Trepels-Kottek S, Hasan D, Scala M, Capra V, Zara F, van der Ven AT, Driemeyer J, Apitz C, Krämer J, Strong A, Hakonarson H, Watson D, Mayr JA, Prokisch H, Meitinger T, Borggraefe I, Spiegler J, Baric I, Paolini M, Gerstl L, Wagner M. Brunet T, et al. Among authors: elbracht m. Genet Med. 2024 Feb;26(2):101013. doi: 10.1016/j.gim.2023.101013. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924258
Patient with three euchromatic supernumerary marker chromosomes derived from chromosomes 1, 12, and 18: characterization and evaluation of the aberrations.
Schwanitz G, Hagh JK, Rad IA, Omrani MD, Gamerdinger U, Schubert R, Elbracht M, Eggermann T, Eggermann K, Spengler S, Schüler H, Gogiel M. Schwanitz G, et al. Among authors: elbracht m. Am J Med Genet A. 2014 Mar;164A(3):736-40. doi: 10.1002/ajmg.a.36319. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357605
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure.
Mulchandani S, Bhoj EJ, Luo M, Powell-Hamilton N, Jenny K, Gripp KW, Elbracht M, Eggermann T, Turner CL, Temple IK, Mackay DJ, Dubbs H, Stevenson DA, Slattery L, Zackai EH, Spinner NB, Krantz ID, Conlin LK. Mulchandani S, et al. Among authors: elbracht m. Genet Med. 2016 Apr;18(4):309-15. doi: 10.1038/gim.2015.103. Epub 2015 Aug 6. Genet Med. 2016. PMID: 26248010 Free article.
85 results