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Page 1
Genome sequencing in families with congenital limb malformations.
Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, de Silva DC, Elçioglu N, Filges I, Gerkes E, Girisha KM, Graul-Neumann L, Jamsheer A, Krawitz P, Kurth I, Markus S, Megarbane A, Reis A, Reuter MS, Svoboda D, Teller C, Tuysuz B, Türkmen S, Wilson M, Woitschach R, Vater I, Caliebe A, Hülsemann W, Horn D, Mundlos S, Spielmann M. Elsner J, et al. Among authors: busche a. Hum Genet. 2021 Aug;140(8):1229-1239. doi: 10.1007/s00439-021-02295-y. Epub 2021 Jun 22. Hum Genet. 2021. PMID: 34159400 Free PMC article.
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
Bisschoff IJ, Zeschnigk C, Horn D, Wellek B, Rieß A, Wessels M, Willems P, Jensen P, Busche A, Bekkebraten J, Chopra M, Hove HD, Evers C, Heimdal K, Kaiser AS, Kunstmann E, Robinson KL, Linné M, Martin P, McGrath J, Pradel W, Prescott KE, Roesler B, Rudolf G, Siebers-Renelt U, Tyshchenko N, Wieczorek D, Wolff G, Dobyns WB, Morris-Rosendahl DJ. Bisschoff IJ, et al. Among authors: busche a. Hum Mutat. 2013 Jan;34(1):237-47. doi: 10.1002/humu.22224. Epub 2012 Oct 17. Hum Mutat. 2013. PMID: 23033313 Free PMC article.
Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly.
Marchal JA, Ghani M, Schindler D, Gavvovidis I, Winkler T, Esquitino V, Sternberg N, Busche A, Krawitz P, Hecht J, Robinson P, Mundlos S, Graul-Neumann L, Sperling K, Trimborn M, Neitzel H. Marchal JA, et al. Among authors: busche a. Cell Cycle. 2011 Sep 1;10(17):2967-77. doi: 10.4161/cc.10.17.16871. Epub 2011 Sep 1. Cell Cycle. 2011. PMID: 21857152
Neonatal manifestation of multiple sulfatase deficiency.
Busche A, Hennermann JB, Bürger F, Proquitté H, Dierks T, von Arnim-Baas A, Horn D. Busche A, et al. Eur J Pediatr. 2009 Aug;168(8):969-73. doi: 10.1007/s00431-008-0871-2. Epub 2008 Dec 10. Eur J Pediatr. 2009. PMID: 19066960 Review.
ANKRD11 variants: KBG syndrome and beyond.
Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. Parenti I, et al. Among authors: busche a. Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14. Clin Genet. 2021. PMID: 33955014 Free article.
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: busche a. Hum Mutat. 2022 Oct;43(10):1454-1471. doi: 10.1002/humu.24430. Epub 2022 Jul 21. Hum Mutat. 2022. PMID: 35790048
Variants in CUL4B are associated with cerebral malformations.
Vulto-van Silfhout AT, Nakagawa T, Bahi-Buisson N, Haas SA, Hu H, Bienek M, Vissers LE, Gilissen C, Tzschach A, Busche A, Müsebeck J, Rump P, Mathijssen IB, Avela K, Somer M, Doagu F, Philips AK, Rauch A, Baumer A, Voesenek K, Poirier K, Vigneron J, Amram D, Odent S, Nawara M, Obersztyn E, Lenart J, Charzewska A, Lebrun N, Fischer U, Nillesen WM, Yntema HG, Järvelä I, Ropers HH, de Vries BB, Brunner HG, van Bokhoven H, Raymond FL, Willemsen MA, Chelly J, Xiong Y, Barkovich AJ, Kalscheuer VM, Kleefstra T, de Brouwer AP. Vulto-van Silfhout AT, et al. Among authors: busche a. Hum Mutat. 2015 Jan;36(1):106-17. doi: 10.1002/humu.22718. Hum Mutat. 2015. PMID: 25385192 Free PMC article.
47 results