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Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet. 2021 Aug 5;108(8):1450-1465. doi: 10.1016/j.ajhg.2021.06.003. Epub 2021 Jun 28.
Am J Hum Genet. 2021.
PMID: 34186028
Free PMC article.
CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants.
Zarate YA, Uehara T, Abe K, Oginuma M, Harako S, Ishitani S, Lehesjoki AE, Bierhals T, Kloth K, Ehmke N, Horn D, Holtgrewe M, Anderson K, Viskochil D, Edgar-Zarate CL, Sacoto MJG, Schnur RE, Morrow MM, Sanchez-Valle A, Pappas J, Rabin R, Muona M, Anttonen AK, Platzer K, Luppe J, Gburek-Augustat J, Kaname T, Okamoto N, Mizuno S, Kaido Y, Ohkuma Y, Hirose Y, Ishitani T, Kosaki K.
Zarate YA, et al. Among authors: luppe j.
Genet Med. 2021 Jun;23(6):1050-1057. doi: 10.1038/s41436-020-01091-9. Epub 2021 Jan 25.
Genet Med. 2021.
PMID: 33495529
Free article.
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WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Bögershausen N, Krawczyk HE, Jamra RA, Lin SJ, Yigit G, Hüning I, Polo AM, Vona B, Huang K, Schmidt J, Altmüller J, Luppe J, Platzer K, Dörgeloh BB, Busche A, Biskup S, Mendes MI, Smith DEC, Salomons GS, Zibat A, Bültmann E, Nürnberg P, Spielmann M, Lemke JR, Li Y, Zenker M, Varshney GK, Hillen HS, Kratz CP, Wollnik B.
Bögershausen N, et al. Among authors: luppe j.
Hum Mutat. 2022 Oct;43(10):1454-1471. doi: 10.1002/humu.24430. Epub 2022 Jul 21.
Hum Mutat. 2022.
PMID: 35790048
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Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.
Luppe J, Sticht H, Lecoquierre F, Goldenberg A, Gorman KM, Molloy B, Agolini E, Novelli A, Briuglia S, Kuismin O, Marcelis C, Vitobello A, Denommé-Pichon AS, Julia S, Lemke JR, Abou Jamra R, Platzer K.
Luppe J, et al.
Eur J Hum Genet. 2023 Mar;31(3):345-352. doi: 10.1038/s41431-022-01269-6. Epub 2022 Dec 23.
Eur J Hum Genet. 2023.
PMID: 36564538
Free PMC article.
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