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Page 1
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Wortmann SB, Ziętkiewicz S, Guerrero-Castillo S, Feichtinger RG, Wagner M, Russell J, Ellaway C, Mróz D, Wyszkowski H, Weis D, Hannibal I, von Stülpnagel C, Cabrera-Orefice A, Lichter-Konecki U, Gaesser J, Windreich R, Myers KC, Lorsbach R, Dale RC, Gersting S, Prada CE, Christodoulou J, Wolf NI, Venselaar H, Mayr JA, Wevers RA. Wortmann SB, et al. Among authors: dale rc. Genet Med. 2021 Sep;23(9):1705-1714. doi: 10.1038/s41436-021-01194-x. Epub 2021 Jun 17. Genet Med. 2021. PMID: 34140661 Free article.
Mutations in the exocyst component EXOC2 cause severe defects in human brain development.
Van Bergen NJ, Ahmed SM, Collins F, Cowley M, Vetro A, Dale RC, Hock DH, de Caestecker C, Menezes M, Massey S, Ho G, Pisano T, Glover S, Gusman J, Stroud DA, Dinger M, Guerrini R, Macara IG, Christodoulou J. Van Bergen NJ, et al. Among authors: dale rc. J Exp Med. 2020 Oct 5;217(10):e20192040. doi: 10.1084/jem.20192040. J Exp Med. 2020. PMID: 32639540 Free PMC article.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk ØL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Küry S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Møller RS, Scheffer IE. Stamberger H, et al. Among authors: dale rc. Genet Med. 2021 Feb;23(2):363-373. doi: 10.1038/s41436-020-00988-9. Epub 2020 Nov 4. Genet Med. 2021. PMID: 33144681 Free article.
Correction to: Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Wortmann SB, Ziętkiewicz S, Guerrero-Castillo S, Feichtinger RG, Wagner M, Russell J, Ellaway C, Mróz D, Wyszkowski H, Weis D, Hannibal I, von Stülpnagel C, Cabrera-Orefice A, Lichter-Konecki U, Gaesser J, Windreich R, Myers KC, Lorsbach R, Dale RC, Gersting S, Prada CE, Christodoulou J, Wolf NI, Venselaar H, Mayr JA, Wevers RA. Wortmann SB, et al. Among authors: dale rc. Genet Med. 2021 Sep;23(9):1789. doi: 10.1038/s41436-021-01280-0. Genet Med. 2021. PMID: 34302123 Free article. No abstract available.
Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.
Rius R, Bennett NK, Bhattacharya K, Riley LG, Yüksel Z, Formosa LE, Compton AG, Dale RC, Cowley MJ, Gayevskiy V, Al Tala SM, Almehery AA, Ryan MT, Thorburn DR, Nakamura K, Christodoulou J. Rius R, et al. Among authors: dale rc. Hum Mutat. 2022 Dec;43(12):1970-1978. doi: 10.1002/humu.24453. Epub 2022 Sep 7. Hum Mutat. 2022. PMID: 36030551 Free PMC article.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogné B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Bellen HJ, Tan QK. Goodman LD, et al. Among authors: dale rc. Am J Hum Genet. 2021 Sep 2;108(9):1669-1691. doi: 10.1016/j.ajhg.2021.06.019. Epub 2021 Jul 26. Am J Hum Genet. 2021. PMID: 34314705 Free PMC article.
358 results