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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 Iype T, Alakbarzade V, Iype M, Singh R, Sreekantan-Nair A, Chioza BA, Mohapatra TM, Baple EL, Patton MA, Warner TT, et al (2015). A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations. BMC Med Genet, 16 Abstract. Author URL. Article has an altmetric score of 1 Alakbarzade V, Hameed A, Quek DQY, 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. Nature Genetics, 47(7), 814-817. Abstract. Article has an altmetric score of 49 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 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 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. Article has an altmetric score of 21 Harlalka GV, Baple EL, Cross H, Kühnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, et al (2013). Mutation of HERC2 causes developmental delay with Angelman-like features. J Med Genet, 50(2), 65-73. Abstract. Author URL. Article has an altmetric score of 18 Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross HE, Sreekantan-Nair A, Priestman C, Royle L, Kozak RP, et al (2013). Mutations in B4GALNT1 (GM2 Synthase) underlie a new disorder of ganglioside biosynthesis. Brain, 136(12), 3618-3624. Abstract. Author URL. Article has an altmetric score of 1 Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, et al (2013). SLITRK6 mutations cause myopia and deafness in humans and mice. Journal of Clinical Investigation, 123(5), 2094-2102. Article has an altmetric score of 23 Barwick KE, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, et al (2012). Defective presynaptic choline transport underlies hereditary motor neuropathy. Am J Hum Genet, 91(6), 1103-1107. Abstract. Author URL. Article has an altmetric score of 4 Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, et al (2010). Defective mitochondrial mRNA maturation is associated with spastic ataxia. American Journal Human Genetics, 87(5), 655-660. Abstract. Author URL.