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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 3
2004 4
2005 4
2006 8
2007 3
2008 6
2009 5
2010 5
2011 13
2012 12
2013 10
2014 13
2015 20
2016 19
2017 23
2018 18
2019 15
2020 25
2021 30
2022 23
2023 19
2024 9

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249 results

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Page 1
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
Wortmann SB, Feichtinger RG, Abela L, van Gemert LA, Aubart M, Dufeu-Berat CM, Boddaert N, de Coo R, Stühn L, Hebbink J, Heinritz W, Hildebrandt J, Himmelreich N, Korenke C, Lehman A, Leyland T, Makowski C, Martinez Marin RJ, Marzin P, Mühlhausen C, Rio M, Rotig A, Roux CJ, Schiff M, Haack TB, Syrbe S, Zylicz SA, Thiel C, Veiga da Cunha M, van Schaftingen E, Wagner M, Mayr JA, Wevers RA, Boltshauser E, Willemsen MA. Wortmann SB, et al. Among authors: mayr ja. Neurol Genet. 2024 Apr 5;10(2):e200146. doi: 10.1212/NXG.0000000000200146. eCollection 2024 Apr. Neurol Genet. 2024. PMID: 38617198 Free PMC article.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
Smith CEL, Laugel-Haushalter V, Hany U, Best S, Taylor RL, Poulter JA, Wortmann SB, Feichtinger RG, Mayr JA, Al Bahlani S, Nikolopoulos G, Rigby A, Black GC, Watson CM, Mansour S, Inglehearn CF, Mighell AJ, Bloch-Zupan A; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium. Smith CEL, et al. Among authors: mayr ja. J Med Genet. 2024 Apr 8:jmg-2023-109728. doi: 10.1136/jmg-2023-109728. Online ahead of print. J Med Genet. 2024. PMID: 38458752 Free article.
Response to Kulseth.
Vogel GF, Feichtinger RG, Mayr JA, Wortmann SB. Vogel GF, et al. Among authors: mayr ja. Genet Med. 2024 Mar;26(3):101040. doi: 10.1016/j.gim.2023.101040. Epub 2024 Jan 16. Genet Med. 2024. PMID: 38226982 No abstract available.
Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.
Kušíková K, Šoltýsová A, Ficek A, Feichtinger RG, Mayr JA, Škopková M, Gašperíková D, Kolníková M, Ornig K, Kalev O, Weis S, Weis D. Kušíková K, et al. Among authors: mayr ja. Genes (Basel). 2023 Dec 3;14(12):2174. doi: 10.3390/genes14122174. Genes (Basel). 2023. PMID: 38136996 Free PMC article.
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut NE, Brugger M, Brunet T, Bufler P, Burnytė B, Calvo PL, Crushell E, Dalgiç B, Das AM, Dezsőfi A, Distelmaier F, Fichtner A, Freisinger P, Garbade SF, Gaspar H, Goujon L, Hadzic N, Hartleif S, Hegen B, Hempel M, Henning S, Hoerning A, Houwen R, Hughes J, Iorio R, Iwanicka-Pronicka K, Jankofsky M, Junge N, Kanavaki I, Kansu A, Kaspar S, Kathemann S, Kelly D, Kirsaçlioğlu CT, Knoppke B, Kohl M, Kölbel H, Kölker S, Konstantopoulou V, Krylova T, Kuloğlu Z, Kuster A, Laass MW, Lainka E, Lurz E, Mandel H, Mayerhanser K, Mayr JA, McKiernan P, McClean P, McLin V, Mention K, Müller H, Pasquier L, Pavlov M, Pechatnikova N, Peters B, Petković Ramadža D, Piekutowska-Abramczuk D, Pilic D, Rajwal S, Rock N, Roetig A, Santer R, Schenk W, Semenova N, Sokollik C, Sturm E, Taylor RW, Tschiedel E, Urbonas V, Urreizti R, Vermehren J, Vockley J, Vogel GF, Wagner M, van der Woerd W, Wortmann SB, Zakharova E, Hoffmann GF, Meitinger T, Murayama K, Staufner C, Prokisch H. Lenz D, et al. Among authors: mayr ja. Hepatology. 2024 May 1;79(5):1075-1087. doi: 10.1097/HEP.0000000000000684. Epub 2023 Nov 16. Hepatology. 2024. PMID: 37976411 Free PMC article.
Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death.
Weis D, Lin LL, Wang HH, Li ZJ, Kusikova K, Ciznar P, Wolf HM, Leiss-Piller A, Wang Z, Wei X, Weis S, Skalicka K, Hrckova G, Danisovic L, Soltysova A, Yang TT, Feichtinger RG, Mayr JA, Qi L. Weis D, et al. Among authors: mayr ja. J Clin Invest. 2024 Jan 16;134(2):e170882. doi: 10.1172/JCI170882. J Clin Invest. 2024. PMID: 37943617 Free PMC article.
249 results