Professor Andrew Crosby
Professor of Human Genetics
A.H.Crosby@exeter.ac.uk
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 Rare Disease and Community Genomic Research group at the University of Exeter Medical School alongside Professor 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 subsequently Head 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
- The Amish community genetics project
- @RDExeter Twitter group account
- FutureLearn MOOC: Genomic Medicine and Research: A Community Approach
Research group links
Research
Research interests
Over the last 20 years Professor Crosby’s research has focussed on the investigation of the genetic and molecular basis of inherited conditions. His group has discovered >70 new monogenic inherited disorders, most of which entail eurolongical conditions. He is recognised internationally for his research to define the molecular causes of motor neurone degenerative diseases in particular the hereditary spastic paraplegias, for which his group has defined >20 new disease genes. These genetic discoveries have identified new neurodegenerative disease mechanisms providing important insights into molecular themes which may be common to multiple neurodegenerative disorders in particular motor neurone diseases, which are currently an active area of investigation.
Many of the families involved in this research form part of long-running community clinical-genetic research programmes undertaken alongside Professor Emma Baple, in particular amongst the Amish populations of the USA (see www.WOHproject.com). 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, as well as globally.
Publications
Journal articles
Alakbarzade V, Iype T, Chioza BA, Harlalka GV, Singh R, Hardy H, Sreekantan-Nair A, Proukakis C, Kathryn J P, Clark LN, et al (In Press). Copy number variation of LINGO1 in familial dystonic tremor. Neurology Genetics
Ullah MI, Abdul N, Harlalka GV, Ahmad W, Hassan MJ, Baple EL, Crosby A, Chioza BA (In Press). Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report. BMC Medical Genetics
Leslie J, Rawlins L, Chioza B, Olubodun O, Salter C, Fasham J, Jones H, Cross H, Lam S, Harlalka G, et al (In Press). MNS1 variant associated with situs inversus and male infertility. European Journal of Human Genetics, 1-18. Abstract.
Khalaf-Nazzal R, Dweikat I, Ubeyratna N, Fasham J, Alawneh M, Leslie J, Maree M, Gunning A, Zayed DZ, Voutsina N, et al (2024). TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine. Am J Med Genet A Abstract. Author URL.
Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH, Andersson MHL, Bupp C, Cambridge EL, et al (2023). Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes. Brain, 146(11), 4766-4783. Abstract. Author URL.
Fasham J, Huebner AK, Liebmann L, Khalaf-Nazzal R, Maroofian R, Kryeziu N, Wortmann SB, Leslie JS, Ubeyratna N, Mancini GMS, et al (2023). SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission. Brain, 146(11), 4547-4561. Abstract. Author URL.
Khalaf-Nazzal R, Fasham J, Inskeep KA, Blizzard LE, Leslie JS, Wakeling MN, Ubeyratna N, Mitani T, Griffith JL, Baker W, et al (2022). Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder. Am J Hum Genet, 109(11), 2068-2079. Abstract. Author URL.
Leslie JS, Hjeij R, Vivante A, Bearce EA, Dyer L, Wang J, Rawlins L, Kennedy J, Ubeyratna N, Fasham J, et al (2022). Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities. Genet Med, 24(11), 2249-2261. Abstract. Author URL.
Rawlins LE, Almousa H, Khan S, Collins SC, Milev MP, Leslie J, Saint-Dic D, Khan V, Hincapie AM, Day JO, et al (2022). Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice. PLoS Genet, 18(3). Abstract. Author URL.
Ma Y, Wang X, Shoshany N, Jiao X, Lee A, Ku G, Baple EL, Fasham J, Nadeem R, Naeem MA, et al (2022). CLCC1 c. 75C>A Mutation in Pakistani Derived Retinitis Pigmentosa Families Likely Originated with a Single Founder Mutation 2,000-5,000 Years Ago. Front Genet, 13 Abstract. Author URL.
Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, et al (2022). Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med, 24(3), 631-644. Abstract. Author URL.
Lin S, Sanchez-Bretano A, Leslie JS, Williams KB, Lee H, Thomas NS, Callaway J, Deline J, Ratnayaka JA, Baralle D, et al (2022). Evidence that the Ser192Tyr/Arg402Gln in <i>cis</i> Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B). NPJ GENOMIC MEDICINE, 7(1). Author URL.
Sala-Gaston J, Pedrazza L, Ramirez J, Martinez-Martinez A, Rawlins LE, Baple EL, Crosby AH, Mayor U, Ventura F, Rosa JL, et al (2022). HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress. Cell Mol Life Sci, 79(11). Abstract. Author URL.
Tábara LC, Al-Salmi F, Maroofian R, Al-Futaisi AM, Al-Murshedi F, Kennedy J, Day JO, Courtin T, Al-Khayat A, Galedari H, et al (2022). TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. Brain, 145(9), 3095-3107. Abstract. Author URL.
Ammous Z, Rawlins LE, Jones H, Leslie JS, Wenger O, Scott E, Deline J, Herr T, Evans R, Scheid A, et al (2021). A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder. PLOS Genetics, 17(9), e1009803-e1009803. Abstract.
Salter CG, Cai Y, Lo B, Helman G, Taylor H, McCartney A, Leslie JS, Accogli A, Zara F, Traverso M, et al (2021). Biallelic PI4KA variants cause neurological, intestinal and immunological disease. Brain, 144(12), 3597-3610. Abstract. Author URL.
Lin S, Fasham J, Al-Hijawi F, Qutob N, Gunning A, Leslie JS, McGavin L, Ubeyratna N, Baker W, Zeid R, et al (2021). Consolidating biallelic <i>SDHD</i> variants as a cause of mitochondrial complex II deficiency. EUROPEAN JOURNAL OF HUMAN GENETICS, 29(10), 1570-1576. Author URL.
Rickman OJ, Salter CG, Gunning AC, Fasham J, Voutsina N, Leslie JS, McGavin L, Cross HE, Posey JE, Akdemir ZC, et al (2021). Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform. Parkinsonism Relat Disord, 82, 84-86. Abstract. Author URL.
Khalaf-Nazzal R, Fasham J, Ubeyratna N, Evans DJ, Leslie JS, Warner TT, Al-Hijawi F, Alshaer S, Baker W, Turnpenny PD, et al (2021). Final Exon Frameshift Biallelic <i>PTPN23</i> Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia. BRAIN SCIENCES, 11(5). Author URL.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, et al (2021). The contribution of X-linked coding variation to severe developmental disorders. Nature Communications, 12(1). Abstract.
Borah K, Rickman OJ, Voutsina N, Ampong I, Gao D, Baple EL, Dias IH, Crosby AH, Griffiths HR (2020). A quantitative LC-MS/MS method for analysis of mitochondrial -specific oxysterol metabolism. Redox Biol, 36 Abstract. Author URL.
Gunning AC, Fryer V, Fasham J, Crosby AH, Ellard S, Baple EL, Wright CF (2020). Assessing performance of pathogenicity predictors using clinically relevant variant datasets. Journal of Medical Genetics, 58(8), 547-555. Abstract.
Wenger O, Brown M, Smith B, Chowdhury D, Crosby AH, Baple EL, Yoder M, Laxen W, Tortorelli S, Strauss KA, et al (2020). Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia. Molecular Genetics and Metabolism, 131(3), 316-324. Abstract.
Borah K, Rickman OJ, Voutsina N, Baple EL, Dias IH, Crosby AH, Griffiths HR (2020). Datasets of whole cell and mitochondrial oxysterols derived from THP-1, SH-SY5Y and human peripheral blood mononuclear cells using targeted metabolomics. Data in Brief, 33 Abstract.
Sullivan JM, Motley WW, Johnson JO, Aisenberg WH, Marshall KL, Barwick KE, Kong L, Huh JS, Saavedra-Rivera PC, McEntagart MM, et al (2020). Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy. J Clin Invest, 130(3), 1506-1512. Abstract. Author URL.
Rickman OJ, Baple EL, Crosby AH (2020). Lipid metabolic pathways converge in motor neuron degenerative diseases. Brain, 143(3), 1083-1087. Abstract.
Fasham J, Leslie JS, Harrison JW, Deline J, Williams KB, Kuhl A, Cross HE, Scott Schwoerer J, Crosby AH, Baple EL, et al (2020). No association between SCN9A and monogenic human epilepsy disorders. PLOS Genetics, 16(11), e1009161-e1009161. Abstract.
Tovy A, Reyes JM, Gundry MC, Brunetti L, Lee-Six H, Petljak M, Park HJ, Guzman AG, Rosas C, Jeffries AR, et al (2020). Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual is Associated with Conserved Epigenetic Erosion. Cell Stem Cell, 27(2), 326-335.e4. Abstract. Author URL.
Akbar A, Bint-E-Farrakh M, Crosby AH, Gul A, Harlalka GV (2020). Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families. Congenit Anom (Kyoto), 60(5), 149-150. Author URL.
O'Gorman L, Norman CS, Michaels L, Newall T, Crosby AH, Mattocks C, Cree AJ, Lotery AJ, Baple EL, Ratnayaka JA, et al (2019). A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping. Sci Rep, 9(1). Abstract. Author URL.
Rawlins LE, Jones H, Wenger O, Aye M, Fasham J, Harlalka GV, Chioza BA, Miron A, Ellard S, Wakeling M, et al (2019). An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia. Eur J Hum Genet, 27(4), 657-662. Abstract. Author URL.
Khan S, Lin S, Harlalka GV, Ullah A, Shah K, Khalid S, Mehmood S, Hassan MJ, Ahmad W, Self JE, et al (2019). BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. Ann Hum Genet, 83(6), 477-482. Abstract. Author URL.
Yuan B, Neira J, Pehlivan D, Santiago-Sim T, Song X, Rosenfeld J, Posey JE, Patel V, Jin W, Adam MP, et al (2019). Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med, 21(3), 663-675. Abstract. Author URL.
Fasham J, Arno G, Lin S, Xu M, Carss KJ, Hull S, Lane A, Robson AG, Wenger O, Self JE, et al (2019). Delineating the expanding phenotype associated with SCAPER gene mutation. Am J Med Genet A, 179(8), 1665-1671. Author URL.
Jeffries AR, Maroofian R, Salter CG, Chioza BA, Cross HE, Patton MA, Dempster E, Temple IK, Mackay DJG, Rezwan FI, et al (2019). Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging. Genome Res, 29(7), 1057-1066. Abstract. Author URL.
Shribman S, Reid E, Crosby AH, Houlden H, Warner TT (2019). Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches. Lancet Neurol, 18(12), 1136-1146. Abstract. Author URL.
Khan S, Rawlins LE, Harlalka GV, Umair M, Ullah A, Shahzad S, Javed M, Baple EL, Crosby AH, Ahmad W, et al (2019). Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families. BMC Med Genet, 20(1). Abstract. Author URL.
Mehmood S, Harlalka GV, Dad R, Chioza BA, Ullah MI, Ahmad A, Crosby AH, Baple EL, Hassan MJ (2019). In Silico analysis of SIGMAR1 gene causing distal hereditary motor neuropathy in a Pakistani family. Gene Reports, 16 Abstract.
Akbar A, Prince C, Payne C, Fasham J, Ahmad W, Baple EL, Crosby AH, Harlalka GV, Gul A (2019). Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families. BMC Med Genet, 20(1). Abstract. Author URL.
Shakil M, Harlalka GV, Ali S, Lin S, D'Atri I, Hussain S, Nasir A, Shahzad MA, Ullah MI, Self JE, et al (2019). Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families. Eye (Lond), 33(8), 1339-1346. Abstract. Author URL.
Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan C-C, Nakaya N, Ma Z, Ma Y, Cai X, et al (2018). Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genet, 14(8). Abstract. Author URL.
Lin S, Harlalka GV, Hameed A, Reham HM, Yasin M, Muhammad N, Khan S, Baple EL, Crosby AH, Saleha S, et al (2018). Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature. BMC Med Genet, 19(1). 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.
Bordbar A, Maroofian R, Ostergaard P, Kashaki M, Nikpour S, Gordon K, Crosby A, Khosravi P, Shojaei A (2017). A homozygous loss-of-function mutation in PTPN14 causes a syndrome of bilateral choanal atresia and early infantile-onset lymphedema: PTPN14 mutation in lymphedema-choanal atresia. Meta Gene, 14, 53-58. Abstract.
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 (2017). A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain, 140(3), 547-554. Abstract. Author URL.
van den Bruck R, Weil PP, Ziegenhals T, Schreiner P, Juranek S, Gödde D, Vogel S, Schuster F, Orth V, Dörner J, et al (2017). Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016. Mol Cell Pediatr, 4(Suppl 1). Author URL.
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.
Wilson RHC, Biasutto AJ, Wang L, Fischer R, Baple EL, Crosby AH, Mancini EJ, Green CM (2017). PCNA dependent cellular activities tolerate dramatic perturbations in PCNA client interactions. DNA Repair (Amst), 50, 22-35. Abstract. Author URL.
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.
Baple EL, Houlden H, Zollo M, Crosby AH (2017). Reply: PRUNE1: a disease-causing gene for secondary microcephaly. Brain, 140(10). Author URL.
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.
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.
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.
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.
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.
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.
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 <i>FAM20C</i> 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.
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 <i>MAP3K1</i> 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 <i>CYP7B1</i> 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.
Chaleshtori MH, Farrokhi E, Shahrani M, Kheiri S, Dolati M, Rad LH, Pour-Jafari H, Samani KG, Chaleshtori KS, Crosby AH, et al (2007). High carrier frequency of the GJB2 mutation (35delG) in the north of Iran. International Journal of Pediatric Otorhinolaryngology, 71(6), 863-867. Abstract.
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.
Sen-Chowdhry S, Syrris P, McKenna WJ, Norman M, Mogensen J, Shaw A, Rowland E, Simpson M, Crosby A, Hughes S, et al (2006). Response. Circulation, 113(5).
Wilkinson PA, Simpson MA, Bastaki L, Patel H, Reed JA, Kalidas K, Samilchuk E, Khan R, Warner TT, Crosby AH, et al (2005). A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14. JOURNAL OF MEDICAL GENETICS, 42(1), 80-82. 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, Bönnernann C, Crosby AH, Gärtner J (2005). Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset. NEUROPEDIATRICS, 36(4), 274-278. Author URL.
Kalidas K, Shaw AC, Crosby AH, Newbury-Ecob R, Greenhalgh L, Temple IK, Law C, Patel A, Patton MA, Jeffery S, et al (2005). Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. J Hum Genet, 50(1), 21-25. Abstract. 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.
Warner TT, Patel H, Proukakis C, Reed JA, McKie L, Wills A, Patton MA, Crosby AH (2004). A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia. J Neurol, 251(9), 1068-1074. Abstract. Author URL.
Sperfeld AD, Kassubek J, Crosby AH, Winner B, Ludolph AC, Uttner I, Hanemann CO (2004). Complicated hereditary spastic paraplegia with thin corpus callosum: Variation of phenotypic expression over time [8]. Journal of Neurology, 251(10), 1285-1287.
Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, et al (2004). Heterozygous missense mutations in <i>BSCL2</i> 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.
Wilkinson PA, Crosby AH, Turner C, Patel H, Wood NW, Schapira AH, Warner TT (2003). A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia. Neurology, 61(2), 235-238. Abstract. Author URL.
Crosby AH (2003). Disruption of cellular transport: a common cause of neurodegeneration?. Lancet Neurol, 2(5), 311-316. 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.
Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH (2003). Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet, 73(5), 1147-1156. Abstract. Author URL.
Ahmad-Annuar A, Shah P, Hafezparast M, Hummerich H, Witherden AS, Morrison KE, Shaw PJ, Kirby J, Warner TT, Crosby A, et al (2003). No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders. Amyotroph Lateral Scler Other Motor Neuron Disord, 4(3), 150-157. Abstract. Author URL.
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.
Proukakis C, Auer-Grumbach M, Wagner K, Wilkinson PA, Reid E, Patton MA, Warner TT, Crosby AH (2003). Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. Hum Mutat, 21(2). Abstract. Author URL.
Ciccarelli FD, Proukakis C, Patel H, Cross H, Azam S, Patton MA, Bork P, Crosby AH (2003). The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. Genomics, 81(4), 437-441. Abstract.
Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JCS, et al (2002). Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome. Hum Genet, 111(4-5), 421-427. Abstract. Author URL.
Markus HS, Martin RJ, Simpson MA, Dong YB, Ali N, Crosby AH, Powell JF (2002). Diagnostic strategies in CADASIL. Neurology, 59(8), 1134-1138. 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, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, et al (2002). Mutations in <i>PTPN11</i>, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome (vol 29, pg 465, 2001). NATURE GENETICS, 30(1), 123-123. Author URL.
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.
Proukakis C, Hart PE, Cornish A, Warner TT, Crosby AH (2002). Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia. J Neurol Sci, 201(1-2), 65-69. Abstract. Author URL.
Mead SH, Proukakis C, Wood N, Crosby AH, Plant GT, Warner TT (2001). A large family with hereditary spastic paraparesis due to a frame shift mutation of the spastin (SPG4) gene: association with multiple sclerosis in two affected siblings and epilepsy in other affected family members. J Neurol Neurosurg Psychiatry, 71(6), 788-791. Abstract. Author URL.
Patel H, Nardelli M, Fenn T, Houlston R, Coonar A, Patton MA, Crosby AH (2001). Homozygosity at chromosome 8qter in individuals affected by mal de Meleda (Meleda disease) originating from the island of Meleda. Br J Dermatol, 144(4), 731-734. Abstract. Author URL.
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, Allen I, Phillimore HE, Silver JR, Wood NW, Jeffery S, Patton MA, Crosby AH, et al (2001). Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci. Am J Med Genet, 102(1), 68-72. Abstract. Author URL.
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.
Ion A, Crosby AH, Kremer H, Kenmochi N, Van Reen M, Fenske C, Van der Burgt I, Brunner HG, Montgomery K, Kucherlapati RS, et al (2000). Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes <i>MYL2</i>, <i>DCN</i>, <i>EPS8</i>, and <i>RPL6</i>. JOURNAL OF MEDICAL GENETICS, 37(11), 884-886. Author URL.
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.
Afzal AR, Rajab A, Fenske C, Crosby A, Lahiri N, Ternes-Pereira E, Murday VA, Houlston R, Patton MA, Jeffery S, et al (2000). Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22. Hum Genet, 106(3), 351-354. Abstract. Author URL.
Jeffery S, Crosby A, Plange-Rhule J, Amoah-Danquah J, Acheampong JW, Eastwood JB, Malik AK (1999). Evidence from a Ghanaian population of known African descent to support the proposition that hemochromatosis is a Caucasian disorder. Genet Test, 3(4), 375-377. Abstract. Author URL.
Brady AF, Jamieson CR, van der Burgt I, Crosby A, van Reen M, Kremer H, Mariman E, Patton MA, Jeffery S (1997). Further delineation of the critical region for noonan syndrome on the long arm of chromosome 12. Eur J Hum Genet, 5(5), 336-337. Author URL.
Crosby AH, Lyu MS, Lin K, McBride OW, Kerr JM, Aplin HM, Fisher LW, Young MF, Kozak CA, Dixon MJ, et al (1996). Mapping of the human and mouse bone sialoprotein and osteopontin loci. Mammalian Genome, 7(2), 149-151.
Crosby AH, Edwards SJ, Murray JC, Dixon MJ (1995). Genomic Organization of the Human Osteopontin Gene: Exclusion of the Locus from a Causative Role in the Pathogenesis of Dentinogenesis Imperfecta Type II. Genomics, 27(1), 155-160.
Aplin HM, Hirst KL, Crosby AH, Dixon MJ (1995). Mapping of the Human Dentin Matrix Acidic Phosphoprotein Gene (DMP1) to the Dentinogenesis Imperfecta Type II Critical Region at Chromosome 4q21. Genomics, 30(2), 347-349.
Conferences
Leslie J, Hjeij R, Vivante A, Bearce E, Dyer L, Wang J, Rawlins L, Kennedy J, Ubeyratna N, Fasham J, et al (2023). Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities. Author URL.
Leslie J, Rawlins LE, Chioza BA, Olusanya OR, Salter CG, Fasham J, Cross HE, Lam S, Harlalka GV, Muggenthaler MMA, et al (2022). <i>MNS1</i> gene alterations are associated with situs inversus and male infertility. Author URL.
Fasham JDR, Leslie JS, Harrison JW, Deline J, Williams KB, Kuhl A, Schwoerer JS, Cross HE, Crosby AH, Baple EL, et al (2022). <i>SCN9A</i> gene variants do not cause monogenic epilepsy in humans. Author URL.
Rawlins LE, Almousa H, Khan S, Collins SC, Milev MP, Leslie JS, Saint-Dic D, Hincapie AM, Harlalka GV, Vancollie VE, et al (2022). Biallelic <i>TRAPPC10</i> variants are associated with a microcephalic TRAPPopathy disorder in humans and mice. Author URL.
Sullivan J, Motley W, Johnson J, Aisenberg W, Marshall K, Barwick K, Kong L, Huh J, Saavedra-Rivera P, McEntagart M, et al (2020). Dominant mutations of the notch ligand jagged1 cause type 2 Charcot-Marie-Tooth disease. Author URL.
Sullivan JM, Motley WW, Johnson JO, Aisenberg W, Zuberi A, Lutz C, Traynor B, Crosby A, Sumner CJ (2019). Dominant Mutations of a Notch Pathway Component Cause Type 2 Charcot-Marie-Tooth Disease. Author URL.
D'Atri I, Li L, Jiao X, Ono F, Nelson R, Chan C, Nakaya N, Ma Z, Ma Y, Cai X, et al (2019). Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. Author URL.
D'Atri I, Li L, Jiao X, Ono F, Nelson R, Chan C, Nakaya N, Ma Z, Ma Y, Cai X, et al (2019). Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. Author URL.
Ferrucci V, Salpietro V, Asadzadeh F, Jemielity J, Pennino F, Ahmed M, Scognamiglio I, Musella L, Di Somma A, Cozzolino F, et al (2018). Biallelic mutations of Prune-1 are causing PEHO-like syndrome with microcephaly and neurodevelopmental impairment. Author URL.
Tovy A, Park HJ, Reyes JM, Guzman A, Rau RE, Jeffries A, Jonnathan M, Baple E, Crosby A, Petljak M, et al (2018). Mosaic DNMT3A Germline Mutation As a Model for Mutant DNMT3A Competitive Advantage in the Blood Lineage. Author URL.
Mathiowetz A, Baple E, Russo A, Coulter A, Carrano E, Brown J, Jinks R, Crosby A, Campellone KG (2017). An Amish founder mutation disrupts a PI(3) P-WHAMM-Arp2/3 complex driven autophagosome remodeling pathway. Author URL.
Wang H, Salter S, Refai O, Hardy H, Sejersen T, Wright J, Zimmerman H, Weis J, Schara U, Russell M, et al (2017). Recessively-acting choline transporter mutations associated with severe congenital myasthenia disrupt transporter surface trafficking <i>in vitro</i> and <i>in vivo</i>. Author URL.
Campellone K, Mathiowetz A, Russo A, Baple E, Crosby A (2016). An inherited developmental disorder reveals functions for WHAMM and the actin nucleation machinery in early stages of autophagy. Author URL.
Campellone K, Mathiowetz A, Russo A, Baple E, Crosby A (2016). An inherited developmental disorder reveals functions for WHAMM and the actin nucleation machinery in early stages of autophagy. 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.
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.
Moore-Barton H, Chioza BA, Matsumoto Y, Cross HE, Sakoori K, Ota M, Gurtz K, Patton MA, Aruga J, Crosby AH, et al (2011). Molecular and pathological characterisation of an inherited condition amongst the Amish involving high myopia and sensorineural hearing loss. 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.
Priestman DA, Neville DCA, Reinkensmeier G, Simpson MA, Proukakis C, Patten M, Dwek RA, Butters TD, Platt FM, Crosby AH, et al (2005). Human GM3 synthase deficiency: a novel form of hereditary childhood epilepsy. Author URL.
Priestman DA, Neville DCA, Reinkensmeier G, Simpson MA, Proukakis C, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH, et al (2004). Human GM3 synthase deficiency: Autosomal recessive infantile onset symptomatic epilepsy syndrome. Author URL.
Crosby AH, Proukakis C, Simpson M, Patton MA, Cross H (2003). A clinical study of Mast syndrome, an autosomal recessive form of hereditary spastic paraplegia with dementia. Author URL.
Patel H, Whiting K, Patton MA, Crosby AH (2003). Investigation of the subcellular localisation of wildtype and mutant isoforms of spartin, mutated in a complicated form of HSP. Author URL.
Shaw AC, Sharland M, Crosby AH, Kalidas K, Sivapalan G, Jeffery S, Patton MA (2003). Long term outcome of feeding problems in Noonan syndrome. Author URL.
Proukakis C, Simpson M, Pryde A, Patton MA, Cross H, Crosby AH (2003). Mapping of a novel form of infantile onset epilepsy syndrome to chromosome 2p. Author URL.
Simpson M, Proukakis C, Cross H, Patton MA, Crosby AH (2003). Maspardin is mutated in Mast syndrome, a form of hereditary spastic paraplegia associated with dementia. Author URL.
Sivapalan G, Crosby A, Jeffery S, Kalidas K, Shaw A, Patton M (2003). Overview of the signalling cascades of PTPN11, mutated in Noonan Syndrome. Author URL.
Proukakis C, Crosby AH, Auer-Grumbach M, Wagner K, Reid E, Patton MA, Warner TT (2003). Screening of the spastin gene in autosomal dominant hereditary spastic paraplegia reveals seven novel mutations. Author URL.
Shaw AC, Prappa E, Kalidas K, Crosby AH, Jeffery S, McKenna WM, Patton MA (2002). 10 year follow up of a large cohort of patients with Noonan Syndrome. Author URL.
Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH (2002). A clinical study of the Troyer syndrome, a recessively inherited form of complicated hereditary spastic paraplepia. Author URL.
Patel H, Ciccarelli F, Proukakis C, Patton MA, Bork P, Crosby AH (2002). A novel sequence motif highlights a functional link between spartin and spastin, mutated in hereditary spastic paraplegia. Author URL.
Norman M, Mist B, O'Donoghue A, Mogensen J, Simpson M, Crosby A, McKenna WJ (2002). Autosomal dominant familial left ventricular ARVC. Author URL.
Jeffery S, Wilkinson P, Warner TT, Crosby AH (2002). Confirmation and refinement of the SPG5A locus for pure autosomal recessive hereditary spastic paraplegia. Author URL.
Fenske CD, Warner TT, Patel H, Patton MA, Proukakis C, Crosby AH (2002). Genetic heterogeneity in Silver syndrome. Author URL.
Shaw A, van der Burgt I, Brunner HG, Noordam K, Kalidas K, Crosby AH, Ion A, Jeffery S, Patton MA, Tartaglia M, et al (2002). Genotype and phenotype analysis of 127 patients with Noonan Syndrome. Author URL.
Crosby AH, Patel H, Patton MA, Proukakis C, Cross H (2002). Spartin, the Troyer syndrome gene, suggests defective endosomal trafficking underlies some forms of hereditary spastic paraplegia. Author URL.
Simpson MA, Davies B, Cook R, Abubaker O, Patton MA, Crosby AH (2001). Elucidation of the genomic organisation of the bovine Plakoglobin gene and evaluation of its role in a bovine model of arrhythmogenic right ventricular cardiomyopathy (ARVC), associated with woolly haircoat. Author URL.
Kalidas K, Crosby AH, Ion AM, Kremer H, Van der Burgt I, Brunner HG, Montgomery K, Goldberg R, Kucherlapati RS, Patton MA, et al (2001). Isolation, characterisation and mutation analysis of a novel gene in the Noonan syndrome critical region. Author URL.
Proukakis C, Comiskey C, Reid E, Wilkinson P, Rubinsztein D, Patton MA, Warner TT, Crosby AH (2001). SPG4 (spastin) mutation screening in hereditary spastic paraparesis. Author URL.
Simpson M, Ali N, Dong YB, Powell J, Martin R, Crosby A, Markus H (2001). Screening of British CADASIL families for NOTCH 3 mutations. Author URL.
Ion A, Tipper C, Crosby A, Marks K, Taylor R, Jeffrey I, Kingston HM, Pina-Neto JM, Sachdev R, Patton MA, et al (2000). Mapping the gene for Raine syndrome, a rare lethal autosomal recessive condition. Author URL.
Crosby AH, Salehpour M, Dong R, Kalidas K, Ion A, Jeffery S, Patton M, Kremer H, van Reen M, van der Burgt I, et al (1999). Genomic Organisation of the PPP1CC gene located within the Noonan syndrome critical interval. Author URL.
Ion AM, Brady A, Crosby A, Marks K, Jeffery S, Patton MA (1999). Microdeletion at 12q24.1 within the NS critical interval in two unrelated patients presenting with Noonan syndrome. Author URL.
Jamieson CR, Brady AF, Crosby A, van Reen M, van der Burgt I, Mariman E, Kremer H, Patton MA, Jeffery S (1999). Molecular studies on Noonan syndrome. Author URL.
Murday VA, Patel H, Hart P, Warner T, Allen I, Phillimore H, Patton M, Crosby AH (1999). Silver syndrome, a distinct form of hereditary spastic paraplegia (HSP), is not linked to any of the known HSP loci. Author URL.
Kremer H, Crosby AH, van Reen M, Kenmochi N, Ion A, Jamieson CR, van der Burgt I, Patton MA, Mariman ECM, Jeffery S, et al (1998). Exclusion of the myosin light chain 2 gene and the ribosomal protein L6 gene from a causative role in the pathogenesis of Noonan syndrome. Author URL.
