Crosby, Andrew - University of Exeter

个人简介

Professor Crosby’s main area of research involves the investigation of the genetic and molecular causes of inherited conditions, stemming from the identification of the causal disease gene through to more detailed studies of the disease mechanism responsible. He and his colleagues have so far identified the genes that underlie >35 novel inherited conditions, the majority of which cause neurological disease. He is recognised internationally for his research in motor neurone degenerative diseases, in particular the hereditary spastic paraplegias for which his team have discovered 10 new causative genes. These genetic discoveries have provided an important insight into new pathogenic mechanisms which are now undergoing more detailed investigation in his research group, and have led to the exploration of a clinical trial in motor neurone disease. Many of the families involved in these genetic studies have been identified as part of a long-running community genetic program based amongst the Amish populations of Ohio (USA) undertaken in close collaboration with Dr Emma Baple (UEMS). The UK research team undertake their studies in close partnership with clinicians, special education teachers and other healthcare workers who provide care and support for Amish and other Anabaptist families locally. As well as empowering diagnostic services in the region, their genetic studies provide the scientific insight important for the development and investigation of new therapeutic approaches for conditions which occur in the community.

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Ingram G, Barwick KE, Hartley L, McEntagart M, Crosby AH, Llewelyn G, Morris HR (2016). Distal hereditary motor neuropathy with vocal cord paresis: from difficulty in choral singing to a molecular genetic diagnosis. Pract Neurol, 16(3), 247-251. Abstract. Author URL. Article has an altmetric score of 2 Vona B, Hofrichter MAH, Chioza BA, Crosby AH, Nanda I, Haaf T (2016). Genetic elucidation of nonsyndromic hearing loss in the high-throughput sequencing era. Monographs in Human Genetics, 20, 56-72. Abstract. Alves MM, Halim D, Maroofian R, de Graaf BM, Rooman R, van der Werf CS, Van de Vijver E, Mehrjardi MY, Aflatoonian M, Chioza BA, et al (2016). Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder. Eur J Hum Genet, 24(11), 1627-1629. Abstract. Author URL. Harlalka GV, McEntagart ME, Gupta N, Skrzypiec AE, Mucha MW, Chioza BA, Simpson MA, Sreekantan-Nair A, Pereira A, Günther S, et al (2016). Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia. Hum Mutat, 37(11), 1157-1161. Abstract. Author URL. Article has an altmetric score of 3 Yan D, Tekin D, Bademci G, Foster J, Cengiz FB, Kannan-Sundhari A, Guo S, Mittal R, Zou B, Grati M, et al (2016). Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. Hum Genet, 135(8), 953-961. Abstract. Author URL. Article has an altmetric score of 2 Cubillos-Rojas M, Schneider T, Hadjebi O, Pedrazza L, de Oliveira JR, Langa F, Guénet JL, Duran J, de Anta JM, Alcántara S, et al (2016). The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination. Oncotarget Abstract. Author URL. Alakbarzade V, Hameed A, Quek DQ, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, et al (2015). A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. Nat Genet, 47(7), 814-817. Abstract. Author URL. Article has an altmetric score of 49 Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, et al (2015). Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology, 84(17), 1745-1750. Abstract. Author URL. Article has an altmetric score of 5 Jinks RN, Puffenberger EG, Baple EL, Harding B, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, et al (2015). Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain Abstract. Full text. Article has an altmetric score of 3 Wilson WC, Hornig-Do HT, Bruni F, Chang JH, Jourdain AA, Martinou JC, Falkenberg M, Spåhr H, Larsson NG, Lewis RJ, et al (2014). A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression. Hum Mol Genet, 23(23), 6345-6355. Abstract. Author URL. Koçak Eker H, Ünlü SE, Al-Salmi F, Crosby AH (2014). A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis. European Journal of Medical Genetics, 57(6), 275-278. Abstract. Eker HK, Unlü SE, Al-Salmi F, Crosby AH (2014). A novel homozygous mutation in ALS2 gene in four siblings with infantile-onset ascending hereditary spastic paralysis. Eur J Med Genet, 57(6), 275-278. Abstract. Author URL. Hanson HL, Wilson MJ, Short JP, Chioza BA, Crosby AH, Nash RM, Marks KJ, Mansour S (2014). Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23. American Journal of Medical Genetics, Part A, 164(4), 1003-1009. Abstract. Hanson HL, Wilson MJ, Short JP, Chioza BA, Crosby AH, Nash RM, Marks KJ, Mansour S (2014). Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23. Am J Med Genet A, 164A(4), 1003-1009. Abstract. Author URL. Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, et al (2014). Hypomorphic PCNA mutation underlies a human DNA repair disorder. J Clin Invest, 124(7), 3137-3146. Abstract. Author URL. Article has an altmetric score of 10 Baple EL, Maroofian R, Chioza BA, Izadi M, Cross HE, Al-Turki S, Barwick K, Skrzypiec A, Pawlak R, Wagner K, et al (2014). Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures. Am J Hum Genet, 94(1), 87-94. Abstract. Author URL. Article has an altmetric score of 7 Green CM, Baple EL, Crosby AH (2014). PCNA mutation affects DNA repair not replication. Cell Cycle, 13(20), 3157-3158. Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B (2014). Raine syndrome: an overview. European Journal of Medical Genetics, 57(9), 536-542. Abstract. Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B (2014). Raine syndrome: an overview. Eur J Med Genet, 57(9), 536-542. Abstract. Author URL. Sharifi R, Morra R, Appel CD, Tallis M, Chioza B, Jankevicius G, Simpson MA, Matic I, Ozkan E, Golia B, et al (2013). Deficiency of terminal ADP-ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease. EMBO J, 32(9), 1225-1237. Abstract. Author URL.