COLLEGE OF MEDICINE AND HEALTH
Medicine, Nursing and Allied Health Professions

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Professor Andrew Crosby

Professor of Human Genetics

 5704

 +44 (0) 1392 725704

 RILD Building 

 

University of Exeter Medical School, RILD Building, RD&E Hospital Wonford, Barrack Road, Exeter, EX2 5DW, UK

Overview

Professor Crosby leads the Community Genomic and Neurogenetics Research group at the University of Exeter Medical School alongside Dr Emma Baple, with whom he works closely. Professor Crosby trained at the Universities of Birmingham (BSc) and Manchester (PhD) before moving to St. George’s University London to undertake his postgraduate training, where he rapidly progressed to a Personal Chair and Co-Leader of the Genetics Research Centre. Professor Crosby and his team left London in 2013 to join the rapidly expanding Genomics Research group at the Wellcome-Wolfson Research Centre, where he is now based. 

Qualifications

  • PhD (University Manchester)
  • BSc (University of Birmingham)

Links

Research group links

Research

Research interests

Over the last 18 years Professor Crosby’s research has focussed on the investigation of the genetic and molecular basis of inherited conditions. His group has discovered >65 new genetic causes of inherited diseases, most of which entail causes of inherited neurological disorders. He is recognised internationally for his research to define the molecular causes of motor neurone degenerative diseases, for which his group has defined 18 new disease genes. These genetic discoveries have provided important insights into new neurodegenerative disease mechanisms, which are currently the area of more focussed investigation.

Many of the families involved in this research form part of long-running community clinical-genetic research programmes, in particular amongst the Amish populations of the USA undertaken in close collaboration with Dr Emma Baple (see www.wohproject.org). The UK research team undertake these studies in close partnership with local 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.

Publications

Key publications | Publications by category | Publications by year

Key publications


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. Nat Genet, 47(7), 814-817. 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.
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.
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. Abstract.
Barwick KES, 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.
Auer-Grumbach M, Olschewski A, Papi L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B, et al (2010). Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nature Genetics, 42(2), 160-164. Abstract.

Publications by category


Journal articles

Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, et al (In Press). A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain, 140(3), 547-554. Abstract.  Author URL.  Full text.
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 (In Press). 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 (In Press). Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia. Hum Mutat, 37(11), 1157-1161. Abstract.  Author URL.
Wilson RHC, Biasutto AJ, Wang L, Fischer R, Baple EL, Crosby AH, Mancini EJ, Green CM (In Press). PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions. DNA Repair (Amst), 50, 22-35. Abstract.  Author URL.
Yan D, Tekin D, Bademci G, Foster J, Cengiz FB, Kannan-Sundhari A, Guo S, Mittal R, Zou B, Grati M, et al (In Press). Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. Hum Genet, 135(8), 953-961. Abstract.  Author URL.
Salter CG, Beijer D, Hardy H, Barwick KES, Bower M, Mademan I, De Jonghe P, Deconinck T, Russell MA, McEntagart MM, et al (2018). Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies. Neurol Genet, 4(2). Abstract.  Author URL.  Full text.
Mathiowetz AJ, Baple E, Russo AJ, Coulter AM, Carrano E, Brown JD, Jinks RN, Crosby AH, Campellone KG (2017). An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway. Mol Biol Cell, 28(19), 2492-2507. Abstract.  Author URL.
Wang H, Salter CG, Refai O, Hardy H, Barwick KES, Akpulat U, Kvarnung M, Chioza BA, Harlalka G, Taylan F, et al (2017). Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Brain, 140(11), 2838-2850. Abstract.  Author URL.
Muggenthaler MMA, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, et al (2017). Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLoS Genet, 13(1). Abstract.  Author URL.  Full text.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, et al (2017). PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain, 140(4), 940-952. Abstract.  Author URL.  Full text.
Dehghan Tezerjani M, Maroofian R, Vahidi Mehrjardi MY, Chioza BA, Zamaninejad S, Kalantar SM, Nori-Shadkam M, Ghadimi H, Baple EL, Crosby AH, et al (2016). A novel mutation in the OFD1 gene in a family with oral-facial-digital syndrome type 1: a case report. Iranian Journal of Public Health, 45(10), 1359-1366. Abstract.
Ingram G, Barwick KES, 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.
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.
Aharoni S, Barwick KES, Harlalka GV, Straussberg R, Nevo Y, Chioza BA, McEntagart MM, Mimouni-Bloch A, Weedon M, Crosby AH, et al (2016). Novel homozygous missense mutation in GAN associated with Charcot-Marie-Toothdisease type 2 in a large consanguineousfamily from Israel. BMC Medical Genetics, 17, 18-18. Full text.
Cubillos-Rojas M, Schneider T, Hadjebi O, Pedrazza L, de Oliveira JR, Langa F, Guénet J-L, Duran J, de Anta JM, Alcántara S, et al (2016). The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination. Oncotarget, 7(35), 56083-56106. Abstract.  Author URL.
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.  Full text.
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. Nat Genet, 47(7), 814-817. Abstract.  Author URL.
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.
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.
Wilson WC, Hornig-Do H-T, Bruni F, Chang JH, Jourdain AA, Martinou J-C, Falkenberg M, Spåhr H, Larsson N-G, 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.
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.
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.
Ingram G, Barwick K, McEntagart M, Crosby A, Hartley L, Llewelyn G, Morris H (2013). Distal spinal muscular atrophy with vocal paresis: from the welsh choir to genes. J Neurol Neurosurg Psychiatry, 84(11). Abstract.  Author URL.
Ababneh FK, AlSwaid A, Youssef T, Al Azzawi M, Crosby A, AlBalwi MA (2013). Hereditary Deletion of the Entire FAM20C Gene in a Patient with Raine Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 161(12), 3155-3160. Author URL.
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.
Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross H, Sreekantan-Nair A, Priestman DA, Al-Turki S, McEntagart ME, et al (2013). Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. Brain, 136(Pt 12), 3618-3624. Abstract.  Author URL.  Full text.
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. Abstract.
Barwick KES, 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.
Aharoni S, Harlalka G, Offiah A, Shuper A, Crosby AH, Mcentagart M (2011). Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder. American Journal of Medical Genetics, Part A, 155(12), 3153-3156.
Klein CJ, Shi Y, Fecto F, Donaghy M, Nicholson G, McEntagart ME, Crosby AH, Wu Y, Lou H, McEvoy KM, et al (2011). TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. Neurology, 76(10), 887-894. Abstract.
Auer-Grumbach M, Olschewski A, Papi L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B, et al (2010). Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nature Genetics, 42(2), 160-164. Abstract.
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 of Human Genetics, 87(5), 655-660. Abstract.
Zimoń M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, et al (2010). Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain, 133(6), 1798-1809.
Dick KJ, Eckhardt M, Paisán-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA, Maier H, Sharifi R, Patton MA, Bashir W, et al (2010). Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat, 31(4), E1251-E1260. Abstract.  Author URL.
Pearlman A, Loke J, Le Caignec C, White S, Chin L, Friedman A, Warr N, Willan J, Brauer D, Farmer C, et al (2010). Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination. AMERICAN JOURNAL OF HUMAN GENETICS, 87(6), 898-904. Author URL.
Auer-Grumbach M, Olschewski A, Papić L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Balint Z, Tang B, et al (2010). Mutations in ankyrin domain TRPV4 cause congenital and scapuloperoneal spinal muscular atrophy, and hereditary motor and sensory neuropathy 2C. Nature Genetics, 42(2), 160-164.
Kochar GS, Choudhary A, Gadodia A, Gupta N, Simpson MA, Crosby AH, Kabra M (2010). Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent. Clinical Dysmorphology, 19(3), 153-156.
Simpson MA, Cook RW, Solanki P, Patton MA, Dennis JA, Crosby AH (2009). A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle. Anim Genet, 40(1), 42-46. Abstract.  Author URL.
Schuele R, Brandt E, Karle KN, Tsaousidou M, Klebe S, Klimpe S, Auer-Grumbach M, Crosby AH, Huebner CA, Schoels L, et al (2009). Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. NEUROGENETICS, 10(2), 97-104. Author URL.
Goizet C, Boukhris A, Durr A, Truchetto J, Tesson C, Tsaousidou M, Guyant-Maréchal L, Fontaine B, Loureiro J, Isidor B, et al (2009). CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain, 132(6), 1589-1600.
Boukhris A, Goizet C, Durr A, Tsaousidou M, Guyant-Marechal L, Guimaraes J, Chazouilleres O, Chinnery P, Coutinho P, Crosby A, et al (2009). CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. EUROPEAN JOURNAL OF NEUROLOGY, 16, 281-281. Author URL.
Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, McKenna WJ, Behr ER, Crosby AH (2009). Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology, 113(1), 28-34. Abstract.  Author URL.
Simpson MA, Cross HE, Cross L, Helmuth M, Crosby AH (2009). Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. Am J Kidney Dis, 53(5), 790-795. Abstract.  Author URL.
Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H, Crosby AH (2009). Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Clin Genet, 75(3), 271-276. Abstract.  Author URL.
Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH (2008). A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology, 71(4), 248-252. Abstract.  Author URL.
Salinas S, Proukakis C, Crosby A, Warner TT (2008). Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol, 7(12), 1127-1138. Abstract.  Author URL.
Zahka K, Kalidas K, Simpson MA, Cross H, Keller BB, Galambos C, Gurtz K, Patton MA, Crosby AH (2008). Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish. Heart, 94(10), 1326-1330. Abstract.
Simpson MS, Mansour S, Patton M, Behr E, Crosby AH (2008). Homozygous mutation of desmocollin 2 in a patient with ahrhythmogenic right ventricular cardiomyopathy associated with mild hair and skin abnormalities. Circulation, 113(1), 28-34.
Hashemzadeh Chaleshtori M, Farhud DD, Crosby AH, Farrokhi E, Pour Jafari H, Ghatreh Samani K, Safa Chaleshtori K, Kasiri M, Shahrani M, Mobini GR, et al (2008). Molecular pathology of 6 novel GJB2 allelic variants detected in familial and sporadic Iranian non syndromic hearing loss cases. Iranian Journal of Public Health, 37(3), 9-18. Abstract.
Tsaousidou M, Patton MA, Simpson MA, Morfin R, Crosby AH (2008). Mutation within P4507B1 underlies a form of hereditary spastic paraplegia (SPG5). American Journal Human Genetics, 82(2), 510-515.
Dick KJ, McEntagart M, Alwan W, Reilly M, Crosby AH (2008). Refinement of the locus for distal hereditary motor neuronopathy VII (dHMN-VII) and exclusion of candidate genes. Genome, 51(11), 959-962. Abstract.  Author URL.
Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, et al (2008). Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet, 82(2), 510-515. Abstract.  Author URL.
Simpson MA, Patton MA, Hsu R, Brown N, Crosby AH (2007). Lethal osteosclerotic bone dysplasia is caused by loss of function of Fam20C. American Journal Human genetics, 81(5), 906-912.
Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, et al (2007). Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Am J Hum Genet, 81(5), 906-912. Abstract.  Author URL.
Chaleshtori MH, Simpson MA, Farrokhi E, Dolati M, Hoghooghi Rad L, Geshnigani SA, Crosby AH (2007). Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families [1]. Clinical Genetics, 72(3), 261-263.
Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA (2007). The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child, 92(2), 128-132. Abstract.  Author URL.
Robay D, Patel H, Simpson MA, Brown NA, Crosby AH (2006). Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons. Exp Cell Res, 312(15), 2764-2777. Abstract.  Author URL.
Sen-Chowdhry S, Syrris P, McKenna WJ, Norman M, Mogensen J, Shaw A, Rowland E, Simpson M, Crosby A, Hughes S, et al (2006). Letter regarding article by Norman et al, "Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy" - Response. CIRCULATION, 113(5), E69-E69. Author URL.
Reed JA, Wilkinson PA, Patel H, Simpson MA, Chatonnet A, Robay D, Patton MA, Crosby AH, Warner TT (2005). A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics, 6(2), 79-84. Abstract.  Author URL.
Brockmann K, Simpson MA, Faber A, Bonnernann C, Crosby AH, Gartner J (2005). Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset. NEUROPEDIATRICS, 36(4), 274-278. Author URL.
Norman M, Simpson M, Mogensen J, Shaw A, Hughes S, Syrris P, Sen-Chowdhry S, Rowland E, Crosby A, McKenna WJ, et al (2005). Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation, 112(5), 636-642. Abstract.  Author URL.
Wilkinson PA, Crosby AH, Turner C, Bradley LJ, Ginsberg L, Wood NW, Schapira AH, Warner TT (2004). A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain, 127(Pt 5), 973-980. Abstract.  Author URL.
Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, et al (2004). Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. NATURE GENETICS, 36(3), 271-276. Author URL.
Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DCA, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, et al (2004). Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nature Genetics, 36(11), 1225-1229. Abstract.
Tartaglia M, Cordeddu V, Chang H, Shaw A, Kalidas K, Crosby AH, Patton MA, Sorcini M, van der Burgt I, Jeffery S, et al (2004). Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome. American Journal Human Genetics, 75(3), 492-497.
Tartaglia M, Cordeddu V, Chang H, Shaw A, Kalidas K, Crosby A, Patton MA, Sorcini M, van der Burgt I, Jeffery S, et al (2004). Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. Am J Hum Genet, 75(3), 492-497. Abstract.  Author URL.
Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH (2004). Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. J Neurol, 251(9), 1105-1110. Abstract.  Author URL.
Simpson MA, Cross H, Proukakis C, Pryde A, Patton MA, Hershberger R, Crosby AH (2003). Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. American Journal Human Genetics, 73(6), 1147-1156.
Wilkinson PA, Hart PE, Patel H, Warner TT, Crosby AH (2003). SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. J Neurol Sci, 216(1), 43-45. Abstract.  Author URL.
Crosby AH, Proukakis C (2002). Is the transportation highway the right road for hereditary spastic paraplegia?. American Journal Human Genetics, 71(5), 1009-1016. Abstract.
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Crosby AH, Ion A, Kucherlapati RS, et al (2002). PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. American Journal Human Genetics, 70(6), 1555-1563.
Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH (2002). SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nature Genetics, 31(4), 347-348.
Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, et al (2001). Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nature Genetics, 29(4), 465-468.
Patel H, Hart PE, Warner T, Jeffery S, Patton MA, Crosby AH (2001). The Silver syndrome variant of hereditary spastic paraplegia maps to 11q12-14, with evidence for genetic heterogeneity within this subtype. American Journal Human Genetics, 69(1), 209-215.
Patel H, Hart PE, Warner TT, Houlston RS, Patton MA, Jeffery S, Crosby AH (2001). The Silver syndrome variant of hereditary spastic paraplegia maps to 11q12-q14 with evidence for genetic heterogeneity within this subtype. AMERICAN JOURNAL OF HUMAN GENETICS, 69(4), 512-512. Author URL.
Mckoy G, Protonotarious N, Crosby AH, Tsatsopoulou A, Anastsakis A, Coonar A, Toutouzas P, Norman M, Baboonian C, Jeffery S, et al (2000). A deletion in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy with non epidermolytic palmoplantar keratoderma and woolly hair (Naxos disease). Lancet, 355, 2119-2124.
McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ, et al (2000). Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet, 355(9221), 2119-2124. Abstract.  Author URL.

Conferences

Campellone KG, Baple EL, Russo AJ, Mathiowetz AJ, Crosby AH (2015). An inherited developmental disorder reveals functions for WHAMM and the actin nucleation machinery in autophagy.  Author URL.
Muggenthaler M, Zahka K, Lever H, Desai M, Chioza BA, Cross H, Behr ER, Sharma S, Crosby AH (2015). Phenotypic variation of hypertrophic cardiomyopathy caused by the 3330+2T > G mutation in myosin binding protein-C in 303 Amish individuals.  Author URL.
Aharoni S, Harlalka G, Offiah A, Shuper A, Crosby AH, McEntagart M (2011). A family with a TRPV4 related neuropathy displays marked phenotypic variability ranging from profound neuromuscular disability to non-penetrance.  Author URL.
Baple E, Cross H, Chioza B, Simpson M, Trembath R, McEntagart M, Patton M, Crosby A (2011). A founder mutation in the SAMHD1 gene identified in the Amish is associated with laryngeal involvement.  Author URL.
Muggenthaler M, Cross HE, Behr ER, Crosby AH (2011). Propionic acidaemia in the Old Order Amish presenting as isolated dilated cardiomyopathy.  Author URL.
Norman M, Simpson M, Jens M, Shaw A, Hughes S, Sen-Chowdry S, Rowland E, Crosby A, McKenna WJ (2005). A novel desmoplakin mutation causes left ventricular arrhythmogenic ventricular cardiomyopathy.  Author URL.

Publications by year


In Press

Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, et al (In Press). A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain, 140(3), 547-554. Abstract.  Author URL.  Full text.
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 (In Press). 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 (In Press). Novel Genetic, Clinical, and Pathomechanistic Insights into TFG-Associated Hereditary Spastic Paraplegia. Hum Mutat, 37(11), 1157-1161. Abstract.  Author URL.
Wilson RHC, Biasutto AJ, Wang L, Fischer R, Baple EL, Crosby AH, Mancini EJ, Green CM (In Press). PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions. DNA Repair (Amst), 50, 22-35. Abstract.  Author URL.
Yan D, Tekin D, Bademci G, Foster J, Cengiz FB, Kannan-Sundhari A, Guo S, Mittal R, Zou B, Grati M, et al (In Press). Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents. Hum Genet, 135(8), 953-961. Abstract.  Author URL.

2018

Salter CG, Beijer D, Hardy H, Barwick KES, Bower M, Mademan I, De Jonghe P, Deconinck T, Russell MA, McEntagart MM, et al (2018). Truncating SLC5A7 mutations underlie a spectrum of dominant hereditary motor neuropathies. Neurol Genet, 4(2). Abstract.  Author URL.  Full text.

2017

Mathiowetz AJ, Baple E, Russo AJ, Coulter AM, Carrano E, Brown JD, Jinks RN, Crosby AH, Campellone KG (2017). An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway. Mol Biol Cell, 28(19), 2492-2507. Abstract.  Author URL.
Wang H, Salter CG, Refai O, Hardy H, Barwick KES, Akpulat U, Kvarnung M, Chioza BA, Harlalka G, Taylan F, et al (2017). Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. Brain, 140(11), 2838-2850. Abstract.  Author URL.
Muggenthaler MMA, Chowdhury B, Hasan SN, Cross HE, Mark B, Harlalka GV, Patton MA, Ishida M, Behr ER, Sharma S, et al (2017). Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. PLoS Genet, 13(1). Abstract.  Author URL.  Full text.
Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, et al (2017). PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain, 140(4), 940-952. Abstract.  Author URL.  Full text.

2016

Dehghan Tezerjani M, Maroofian R, Vahidi Mehrjardi MY, Chioza BA, Zamaninejad S, Kalantar SM, Nori-Shadkam M, Ghadimi H, Baple EL, Crosby AH, et al (2016). A novel mutation in the OFD1 gene in a family with oral-facial-digital syndrome type 1: a case report. Iranian Journal of Public Health, 45(10), 1359-1366. Abstract.
Ingram G, Barwick KES, 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.
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.
Aharoni S, Barwick KES, Harlalka GV, Straussberg R, Nevo Y, Chioza BA, McEntagart MM, Mimouni-Bloch A, Weedon M, Crosby AH, et al (2016). Novel homozygous missense mutation in GAN associated with Charcot-Marie-Toothdisease type 2 in a large consanguineousfamily from Israel. BMC Medical Genetics, 17, 18-18. Full text.
Cubillos-Rojas M, Schneider T, Hadjebi O, Pedrazza L, de Oliveira JR, Langa F, Guénet J-L, Duran J, de Anta JM, Alcántara S, et al (2016). The HERC2 ubiquitin ligase is essential for embryonic development and regulates motor coordination. Oncotarget, 7(35), 56083-56106. Abstract.  Author URL.

2015

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.  Full text.
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. Nat Genet, 47(7), 814-817. Abstract.  Author URL.
Campellone KG, Baple EL, Russo AJ, Mathiowetz AJ, Crosby AH (2015). An inherited developmental disorder reveals functions for WHAMM and the actin nucleation machinery in autophagy.  Author URL.
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.
Muggenthaler M, Zahka K, Lever H, Desai M, Chioza BA, Cross H, Behr ER, Sharma S, Crosby AH (2015). Phenotypic variation of hypertrophic cardiomyopathy caused by the 3330+2T > G mutation in myosin binding protein-C in 303 Amish individuals.  Author URL.
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.

2014

Wilson WC, Hornig-Do H-T, Bruni F, Chang JH, Jourdain AA, Martinou J-C, Falkenberg M, Spåhr H, Larsson N-G, 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.
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.
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.

2013

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.
Ingram G, Barwick K, McEntagart M, Crosby A, Hartley L, Llewelyn G, Morris H (2013). Distal spinal muscular atrophy with vocal paresis: from the welsh choir to genes. J Neurol Neurosurg Psychiatry, 84(11). Abstract.  Author URL.
Ababneh FK, AlSwaid A, Youssef T, Al Azzawi M, Crosby A, AlBalwi MA (2013). Hereditary Deletion of the Entire FAM20C Gene in a Patient with Raine Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 161(12), 3155-3160. Author URL.
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.
Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross H, Sreekantan-Nair A, Priestman DA, Al-Turki S, McEntagart ME, et al (2013). Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. Brain, 136(Pt 12), 3618-3624. Abstract.  Author URL.  Full text.
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. Abstract.

2012

Barwick KES, 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.

2011

Aharoni S, Harlalka G, Offiah A, Shuper A, Crosby AH, McEntagart M (2011). A family with a TRPV4 related neuropathy displays marked phenotypic variability ranging from profound neuromuscular disability to non-penetrance.  Author URL.
Baple E, Cross H, Chioza B, Simpson M, Trembath R, McEntagart M, Patton M, Crosby A (2011). A founder mutation in the SAMHD1 gene identified in the Amish is associated with laryngeal involvement.  Author URL.
Muggenthaler M, Cross HE, Behr ER, Crosby AH (2011). Propionic acidaemia in the Old Order Amish presenting as isolated dilated cardiomyopathy.  Author URL.
Aharoni S, Harlalka G, Offiah A, Shuper A, Crosby AH, Mcentagart M (2011). Striking phenotypic variability in familial TRPV4-axonal neuropathy spectrum disorder. American Journal of Medical Genetics, Part A, 155(12), 3153-3156.
Klein CJ, Shi Y, Fecto F, Donaghy M, Nicholson G, McEntagart ME, Crosby AH, Wu Y, Lou H, McEvoy KM, et al (2011). TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies. Neurology, 76(10), 887-894. Abstract.

2010

Auer-Grumbach M, Olschewski A, Papi L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Bálint Z, Tang B, et al (2010). Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C. Nature Genetics, 42(2), 160-164. Abstract.
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 of Human Genetics, 87(5), 655-660. Abstract.
Zimoń M, Baets J, Auer-Grumbach M, Berciano J, Garcia A, Lopez-Laso E, Merlini L, Hilton-Jones D, McEntagart M, Crosby AH, et al (2010). Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain, 133(6), 1798-1809.
Dick KJ, Eckhardt M, Paisán-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA, Maier H, Sharifi R, Patton MA, Bashir W, et al (2010). Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat, 31(4), E1251-E1260. Abstract.  Author URL.
Pearlman A, Loke J, Le Caignec C, White S, Chin L, Friedman A, Warr N, Willan J, Brauer D, Farmer C, et al (2010). Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination. AMERICAN JOURNAL OF HUMAN GENETICS, 87(6), 898-904. Author URL.
Auer-Grumbach M, Olschewski A, Papić L, Kremer H, McEntagart ME, Uhrig S, Fischer C, Fröhlich E, Balint Z, Tang B, et al (2010). Mutations in ankyrin domain TRPV4 cause congenital and scapuloperoneal spinal muscular atrophy, and hereditary motor and sensory neuropathy 2C. Nature Genetics, 42(2), 160-164.
Kochar GS, Choudhary A, Gadodia A, Gupta N, Simpson MA, Crosby AH, Kabra M (2010). Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent. Clinical Dysmorphology, 19(3), 153-156.

2009

Simpson MA, Cook RW, Solanki P, Patton MA, Dennis JA, Crosby AH (2009). A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle. Anim Genet, 40(1), 42-46. Abstract.  Author URL.
Schuele R, Brandt E, Karle KN, Tsaousidou M, Klebe S, Klimpe S, Auer-Grumbach M, Crosby AH, Huebner CA, Schoels L, et al (2009). Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia. NEUROGENETICS, 10(2), 97-104. Author URL.
Goizet C, Boukhris A, Durr A, Truchetto J, Tesson C, Tsaousidou M, Guyant-Maréchal L, Fontaine B, Loureiro J, Isidor B, et al (2009). CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain, 132(6), 1589-1600.
Boukhris A, Goizet C, Durr A, Tsaousidou M, Guyant-Marechal L, Guimaraes J, Chazouilleres O, Chinnery P, Coutinho P, Crosby A, et al (2009). CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5. EUROPEAN JOURNAL OF NEUROLOGY, 16, 281-281. Author URL.
Simpson MA, Mansour S, Ahnood D, Kalidas K, Patton MA, McKenna WJ, Behr ER, Crosby AH (2009). Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology, 113(1), 28-34. Abstract.  Author URL.
Simpson MA, Cross HE, Cross L, Helmuth M, Crosby AH (2009). Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. Am J Kidney Dis, 53(5), 790-795. Abstract.  Author URL.
Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H, Crosby AH (2009). Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Clin Genet, 75(3), 271-276. Abstract.  Author URL.

2008

Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH (2008). A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology, 71(4), 248-252. Abstract.  Author URL.
Salinas S, Proukakis C, Crosby A, Warner TT (2008). Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol, 7(12), 1127-1138. Abstract.  Author URL.
Zahka K, Kalidas K, Simpson MA, Cross H, Keller BB, Galambos C, Gurtz K, Patton MA, Crosby AH (2008). Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish. Heart, 94(10), 1326-1330. Abstract.
Simpson MS, Mansour S, Patton M, Behr E, Crosby AH (2008). Homozygous mutation of desmocollin 2 in a patient with ahrhythmogenic right ventricular cardiomyopathy associated with mild hair and skin abnormalities. Circulation, 113(1), 28-34.
Hashemzadeh Chaleshtori M, Farhud DD, Crosby AH, Farrokhi E, Pour Jafari H, Ghatreh Samani K, Safa Chaleshtori K, Kasiri M, Shahrani M, Mobini GR, et al (2008). Molecular pathology of 6 novel GJB2 allelic variants detected in familial and sporadic Iranian non syndromic hearing loss cases. Iranian Journal of Public Health, 37(3), 9-18. Abstract.
Tsaousidou M, Patton MA, Simpson MA, Morfin R, Crosby AH (2008). Mutation within P4507B1 underlies a form of hereditary spastic paraplegia (SPG5). American Journal Human Genetics, 82(2), 510-515.
Dick KJ, McEntagart M, Alwan W, Reilly M, Crosby AH (2008). Refinement of the locus for distal hereditary motor neuronopathy VII (dHMN-VII) and exclusion of candidate genes. Genome, 51(11), 959-962. Abstract.  Author URL.
Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, et al (2008). Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet, 82(2), 510-515. Abstract.  Author URL.

2007

Simpson MA, Patton MA, Hsu R, Brown N, Crosby AH (2007). Lethal osteosclerotic bone dysplasia is caused by loss of function of Fam20C. American Journal Human genetics, 81(5), 906-912.
Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, et al (2007). Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Am J Hum Genet, 81(5), 906-912. Abstract.  Author URL.
Chaleshtori MH, Simpson MA, Farrokhi E, Dolati M, Hoghooghi Rad L, Geshnigani SA, Crosby AH (2007). Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families [1]. Clinical Genetics, 72(3), 261-263.
Shaw AC, Kalidas K, Crosby AH, Jeffery S, Patton MA (2007). The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child, 92(2), 128-132. Abstract.  Author URL.

2006

Robay D, Patel H, Simpson MA, Brown NA, Crosby AH (2006). Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons. Exp Cell Res, 312(15), 2764-2777. Abstract.  Author URL.
Sen-Chowdhry S, Syrris P, McKenna WJ, Norman M, Mogensen J, Shaw A, Rowland E, Simpson M, Crosby A, Hughes S, et al (2006). Letter regarding article by Norman et al, "Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy" - Response. CIRCULATION, 113(5), E69-E69. Author URL.

2005

Reed JA, Wilkinson PA, Patel H, Simpson MA, Chatonnet A, Robay D, Patton MA, Crosby AH, Warner TT (2005). A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics, 6(2), 79-84. Abstract.  Author URL.
Norman M, Simpson M, Jens M, Shaw A, Hughes S, Sen-Chowdry S, Rowland E, Crosby A, McKenna WJ (2005). A novel desmoplakin mutation causes left ventricular arrhythmogenic ventricular cardiomyopathy.  Author URL.
Brockmann K, Simpson MA, Faber A, Bonnernann C, Crosby AH, Gartner J (2005). Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset. NEUROPEDIATRICS, 36(4), 274-278. Author URL.
Norman M, Simpson M, Mogensen J, Shaw A, Hughes S, Syrris P, Sen-Chowdhry S, Rowland E, Crosby A, McKenna WJ, et al (2005). Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation, 112(5), 636-642. Abstract.  Author URL.

2004

Wilkinson PA, Crosby AH, Turner C, Bradley LJ, Ginsberg L, Wood NW, Schapira AH, Warner TT (2004). A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain, 127(Pt 5), 973-980. Abstract.  Author URL.
Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, et al (2004). Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. NATURE GENETICS, 36(3), 271-276. Author URL.
Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DCA, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, et al (2004). Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nature Genetics, 36(11), 1225-1229. Abstract.
Tartaglia M, Cordeddu V, Chang H, Shaw A, Kalidas K, Crosby AH, Patton MA, Sorcini M, van der Burgt I, Jeffery S, et al (2004). Paternal Germline Origin and Sex-Ratio Distortion in Transmission of PTPN11 Mutations in Noonan Syndrome. American Journal Human Genetics, 75(3), 492-497.
Tartaglia M, Cordeddu V, Chang H, Shaw A, Kalidas K, Crosby A, Patton MA, Sorcini M, van der Burgt I, Jeffery S, et al (2004). Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. Am J Hum Genet, 75(3), 492-497. Abstract.  Author URL.
Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH (2004). Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia. J Neurol, 251(9), 1105-1110. Abstract.  Author URL.

2003

Simpson MA, Cross H, Proukakis C, Pryde A, Patton MA, Hershberger R, Crosby AH (2003). Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. American Journal Human Genetics, 73(6), 1147-1156.
Wilkinson PA, Hart PE, Patel H, Warner TT, Crosby AH (2003). SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. J Neurol Sci, 216(1), 43-45. Abstract.  Author URL.

2002

Crosby AH, Proukakis C (2002). Is the transportation highway the right road for hereditary spastic paraplegia?. American Journal Human Genetics, 71(5), 1009-1016. Abstract.
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, Brunner HG, Crosby AH, Ion A, Kucherlapati RS, et al (2002). PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. American Journal Human Genetics, 70(6), 1555-1563.
Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH (2002). SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nature Genetics, 31(4), 347-348.

2001

Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, et al (2001). Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nature Genetics, 29(4), 465-468.
Patel H, Hart PE, Warner T, Jeffery S, Patton MA, Crosby AH (2001). The Silver syndrome variant of hereditary spastic paraplegia maps to 11q12-14, with evidence for genetic heterogeneity within this subtype. American Journal Human Genetics, 69(1), 209-215.
Patel H, Hart PE, Warner TT, Houlston RS, Patton MA, Jeffery S, Crosby AH (2001). The Silver syndrome variant of hereditary spastic paraplegia maps to 11q12-q14 with evidence for genetic heterogeneity within this subtype. AMERICAN JOURNAL OF HUMAN GENETICS, 69(4), 512-512. Author URL.

2000

Mckoy G, Protonotarious N, Crosby AH, Tsatsopoulou A, Anastsakis A, Coonar A, Toutouzas P, Norman M, Baboonian C, Jeffery S, et al (2000). A deletion in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy with non epidermolytic palmoplantar keratoderma and woolly hair (Naxos disease). Lancet, 355, 2119-2124.
McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ, et al (2000). Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet, 355(9221), 2119-2124. Abstract.  Author URL.

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