Dr Lucy Raymond

Lucy Raymond

University position

Senior Lecturer

Dr Lucy Raymond is pleased to consider applications from prospective PhD students.

Departments

Department of Medical Genetics

Institutes

Cambridge Institute for Medical Research (CIMR)

Email

flr24@cam.ac.uk

Home page

http://www.cimr.cam.ac.uk

Research Themes

Cellular and Molecular Neuroscience

Clinical and Veterinary Neuroscience

Interests

The group aims to understand the molecular mechanisms underlying intellectual disability in humans. Our main focus is on families with X linked disease. In collaboration with The Wellcome Trust Sanger Institute, we are using a new approach to disease gene identification using systematic searches for mutations through the whole of the X chromosome. We have established a substantial collection of samples from families with X linked mental retardation (XLMR) by collaborating with genetics centres throughout the UK, Ireland, Australia, USA and Europe. We have identified new families with mutations in known XLMR genes and have identified 6 novel genes that causes X-linked mental retardation and one that causes idiopathic nystagmus. We are continuing to identify novel genes that cause an X-linked disease with a neurological phenotype by screening the whole X chromosome in a large cohort of patients and assessing the disease causing likelihood in rare missense sequence variants.

Research Focus

Keywords

mental retardation

X chromosome

XLMR

human genetics

learning disability

Clinical conditions

Birth defects

Cognitive impairment

Genetic disorders

Learning disabilities

Equipment

Human genetic mapping

Sequence analysis

Collaborators

Cambridge

Andy Futreal

Tony Holland

Roger Pedersen

Michael Stratton

Geoff Woods

International

Jozef Gecz Web: http://www.wch.sa.gov.au/print.j...

Charles Schwartz Web: http://www.ggc.org/faculty...

Associated News Items


    Key publications

    Raymond FL Tarpey PS, , O’Meara S, Edkins S, Teague J, Butler A, Stevens C, Avis T, Barthorpe S, Buck G et al (2007), “Mutations in CUL4B, encoding a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus and tremor” Am J Hum Genet 80:345-352

    Raymond FL Tarpey PS, Edkins S, Calli Tofts C, O’Meara S,Teague J, Butler A, Stevens C, Barthorpe S, Buck G et al (in press), “Mutations in ZDHHC9, a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus” Am J Hum Genet 80 (in press)

    P Tarpey S Thomas, N Sarvananthan, U Mallya, S Lisgo, CJ Talbot, EO Roberts, M Awan, M Surendran, RJ McLean et al. (2006), “Mutations in a novel member of the FERM family, FRMD7 cause X-linked idiopathic congenital nystagmus” Nature Genetic 38 (11):1242–1244

    Publications

    2014

    Bui TH, Raymond FL, Van den Veyver IB (2014), “Current controversies in prenatal diagnosis 2: should incidental findings arising from prenatal testing always be reported to patients?” Prenat Diagn 34(1):12-7 Details

    Del Giudice E, Macca M, Imperati F, D'Amico A, Parent P, Pasquier L, Layet V, Lyonnet S, Stamboul-Darmency V, Thauvin-Robinet C, Franco B, Oral-Facial-Digital Type I (OFD1) Collaborative Group (2014), “CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study.” Orphanet J Rare Dis 9:74 Details

    Ferner RE, Shaw A, Evans DG, McAleer D, Halliday D, Parry A, Raymond FL, Durie-Gair J, Hanemann CO, Hornigold R, Axon P, Golding JF (2014), “Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2.” J Neurol 261(5):963-9 Details

    Grozeva D, Carss K, Spasic-Boskovic O, Parker MJ, Archer H, Firth HV, Park SM, Canham N, Holder SE, Wilson M, Hackett A, Field M, Floyd JA, UK10K Consortium, Hurles M, Raymond FL (2014), “De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.” Am J Hum Genet 94(4):618-24 Details

    Homan CC, Kumar R, Nguyen LS, Haan E, Raymond FL, Abidi F, Raynaud M, Schwartz CE, Wood SA, Gecz J, Jolly LA (2014), “Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.” Am J Hum Genet 94(3):470-8 Details

    2012

    Baker K, Raymond FL, Bass N (2012), “Genetic investigation for adults with intellectual disability: opportunities and challenges.” Curr Opin Neurol 25(2):150-8 Details

    Clarke AJ, Cooper DN, Krawczak M, Tyler-Smith C, Wallace HM, Wilkie AO, Raymond FL, Chadwick R, Craddock N, John R, Gallacher J, Chiano M (2012), “'Sifting the significance from the data' - the impact of high-throughput genomic technologies on human genetics and health care.” Hum Genomics 6:11 Details

    Evans DG, Raymond FL, Barwell JG, Halliday D (2012), “Genetic testing and screening of individuals at risk of NF2.” Clin Genet 82(5):416-24 Details

    Froyen G, Belet S, Martinez F, Santos-Rebouças CB, Declercq M, Verbeeck J, Donckers L, Berland S, Mayo S, Rosello M, Pimentel MM, Fintelman-Rodrigues N, Hovland R, Rodrigues dos Santos S, Raymond FL, Bose T, Corbett MA, Sheffield L, van Ravenswaaij-Arts CM, Dijkhuizen T, Coutton C, Satre V, Siu V, Marynen P (2012), “Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.” Am J Hum Genet 91(2):252-64 Details

    Santarius T, Dakoji S, Afshari FT, Raymond FL, Firth HV, Fernandes HM, Garnett MR (2012), “Isolated hypoglossal schwannoma in a 9-year-old child.” J Neurosurg Pediatr 10(2):130-3 Details

    Tysome JR, Macfarlane R, Durie-Gair J, Donnelly N, Mannion R, Knight R, Harris F, Vanat ZH, Tam YC, Burton K, Hensiek A, Raymond FL, Moffat DA, Axon PR (2012), “Surgical management of vestibular schwannomas and hearing rehabilitation in neurofibromatosis type 2.” Otol Neurotol 33(3):466-72 Details

    2011

    Otto EA, Ramaswami G, Janssen S, Chaki M, Allen SJ, Zhou W, Airik R, Hurd TW, Ghosh AK, Wolf MT, Hoppe B, Neuhaus TJ, Bockenhauer D, Milford DV, Soliman NA, Antignac C, Saunier S, Johnson CA, Hildebrandt F, GPN Study Group (2011), “Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.” J Med Genet 48(2):105-16 Details

    2010

    Blyth M, Raponi M, Treacy R, Raymond FL, Yates JR, Baralle D (2010), “Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation.” J Neurol Neurosurg Psychiatry 81(3):350-2 Details

    Castanet M, Mallya U, Agostini M, Schoenmakers E, Mitchell C, Demuth S, Raymond FL, Schwabe J, Gurnell M, Chatterjee VK (2010), “Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism.” J Clin Endocrinol Metab 95(8):4031-6 Details

    Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin JP, Raymond FL, Childs AM, Sheridan E, Edwards S, Josifova DJ (2010), “Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.” Am J Hum Genet 86(3):485-9 Details

    Hackett A, Tarpey PS, Licata A, Cox J, Whibley A, Boyle J, Rogers C, Grigg J, Partington M, Stevenson RE, Tolmie J, Yates JR, Turner G, Wilson M, Futreal AP, Corbett M, Shaw M, Gecz J, Raymond FL, Stratton MR, Schwartz CE, Abidi FE (2010), “CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.” Eur J Hum Genet 18(5):544-52 Details

    Kerzendorfer C, Whibley A, Carpenter G, Outwin E, Chiang SC, Turner G, Schwartz C, El-Khamisy S, Raymond FL, O'Driscoll M (2010), “Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks.” Hum Mol Genet 19(7):1324-34 Details

    Lugtenberg D, Zangrande-Vieira L, Kirchhoff M, Whibley AC, Oudakker AR, Kjaergaard S, Vianna-Morgante AM, Kleefstra T, Ruiter M, Jehee FS, Ullmann R, Schwartz CE, Stratton M, Raymond FL, Veltman JA, Vrijenhoek T, Pfundt R, Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Froyen G, Chelly J, Ropers HH, Moraine C, Gècz J, Knijnenburg J, Kant SG, Hamel BC, Rosenberg C, van Bokhoven H, de Brouwer AP (2010), “Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.” Am J Med Genet A 152A(3):638-45 Details

    McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF (2010), “Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.” Am J Hum Genet 87(6):905-14 Details

    Raymond FL, Whittaker J, Jenkins L, Lench N, Chitty LS (2010), “Molecular prenatal diagnosis: the impact of modern technologies.” Prenat Diagn 30(7):674-81 Details

    Rujirabanjerd S, Nelson J, Tarpey PS, Hackett A, Edkins S, Raymond FL, Schwartz CE, Turner G, Iwase S, Shi Y, Futreal PA, Stratton MR, Gecz J (2010), “Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.” Eur J Hum Genet 18(3):330-5 Details

    Shoubridge C, Tarpey PS, Abidi F, Ramsden SL, Rujirabanjerd S, Murphy JA, Boyle J, Shaw M, Gardner A, Proos A, Puusepp H, Raymond FL, Schwartz CE, Stevenson RE, Turner G, Field M, Walikonis RS, Harvey RJ, Hackett A, Futreal PA, Stratton MR, Gécz J (2010), “Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability.” Nat Genet 42(6):486-8 Details

    Whibley A, Urquhart J, Dore J, Willatt L, Parkin G, Gaunt L, Black G, Donnai D, Raymond FL (2010), “Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements.” Eur J Hum Genet 18(10):1095-9 Details

    Whibley AC, Plagnol V, Tarpey PS, Abidi F, Fullston T, Choma MK, Boucher CA, Shepherd L, Willatt L, Parkin G, Smith R, Futreal PA, Shaw M, Boyle J, Licata A, Skinner C, Stevenson RE, Turner G, Field M, Hackett A, Schwartz CE, Gecz J, Stratton MR, Raymond FL (2010), “Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.” Am J Hum Genet 87(2):173-88 Details

    2009

    Clark RD, Graham JM Jr, Friez MJ, Hoo JJ, Jones KL, McKeown C, Moeschler JB, Raymond FL, Rogers RC, Schwartz CE, Battaglia A, Lyons MJ, Stevenson RE (2009), “FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing.” Genet Med 11(11):769-75 Details

    Raymond FL, Whibley A, Stratton MR, Gecz J (2009), “Lessons learnt from large-scale exon re-sequencing of the X chromosome.” Hum Mol Genet 18(R1):R60-4 Details

    Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR (2009), “A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.” Nat Genet 41(5):535-43 Details

    2008

    Froyen G, Corbett M, Vandewalle J, Jarvela I, Lawrence O, Meldrum C, Bauters M, Govaerts K, Vandeleur L, Van Esch H, Chelly J, Sanlaville D, van Bokhoven H, Ropers HH, Laumonnier F, Ranieri E, Schwartz CE, Abidi F, Tarpey PS, Futreal PA, Whibley A, Raymond FL, Stratton MR, Fryns JP, Scott R, Peippo M, Sipponen M, Partington M, Mowat D, Field M, Hackett A, Marynen P, Turner G, Gécz J (2008), “Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.” Am J Hum Genet 82(2):432-43 Details

    Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P (2008), “SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.” Am J Hum Genet 82(4):1003-10 Details

    Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, Donnai D, Raymond FL, Walsh CA, Donahoe PK, Pober BR (2008), “Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.” Am J Med Genet A 146A(14):1842-7 Details

    Ponder M, Statham H, Hallowell N, Moon JA, Richards M, Raymond FL (2008), “Genetic research on rare familial disorders: consent and the blurred boundaries between clinical service and research.” J Med Ethics 34(9):690-4 Details

    Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B, Oral-Facial-Digital Type I (OFDI) Collaborative Group (2008), “Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.” Hum Mutat 29(10):1237-46 Details

    Thomas S, Proudlock FA, Sarvananthan N, Roberts EO, Awan M, McLean R, Surendran M, Kumar AS, Farooq SJ, Degg C, Gale RP, Reinecke RD, Woodruff G, Langmann A, Lindner S, Jain S, Tarpey P, Raymond FL, Gottlob I (2008), “Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7.” Brain 131(Pt 5):1259-67 Details

    Turner G, Boyle J, Partington MW, Kerr B, Raymond FL, Gécz J (2008), “Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation.” Clin Genet 73(2):188-90 Details

    2007

    Field M, Tarpey PS, Smith R, Edkins S, O'Meara S, Stevens C, Tofts C, Teague J, Butler A, Dicks E, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Wooster R, Moon J, Luo Y, Hughes H, Shaw M, Friend KL, Corbett M, Turner G, Partington M, Mulley J, Bobrow M, Schwartz C, Stevenson R, Gecz J, Stratton MR, Futreal PA, Raymond FL (2007), “Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly.” Am J Hum Genet 81(2):367-74 Details

    Quarrell OW, Rigby AS, Barron L, Crow Y, Dalton A, Dennis N, Fryer AE, Heydon F, Kinning E, Lashwood A, Losekoot M, Margerison L, McDonnell S, Morrison PJ, Norman A, Peterson M, Raymond FL, Simpson S, Thompson E, Warner J (2007), “Reduced penetrance alleles for Huntington's disease: a multi-centre direct observational study.” J Med Genet 44(3):e68 Details

    Raymond FL, Tarpey PS, Edkins S, Tofts C, O'Meara S, Teague J, Butler A, Stevens C, Barthorpe S, Buck G, Cole J, Dicks E, Gray K, Halliday K, Hills K, Hinton J, Jones D, Menzies A, Perry J, Raine K, Shepherd R, Small A, Varian J, Widaa S, Mallya U, Moon J, Luo Y, Shaw M, Boyle J, Kerr B, Turner G, Quarrell O, Cole T, Easton DF, Wooster R, Bobrow M, Schwartz CE, Gecz J, Stratton MR, Futreal PA (2007), “Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.” Am J Hum Genet 80(5):982-7 Details

    Schwartz CE, Tarpey PS, Lubs HA, Verloes A, May MM, Risheg H, Friez MJ, Futreal PA, Edkins S, Teague J, Briault S, Skinner C, Bauer-Carlin A, Simensen RJ, Joseph SM, Jones JR, Gecz J, Stratton MR, Raymond FL, Stevenson RE (2007), “The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.” J Med Genet 44(7):472-7 Details

    Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gécz J (2007), “Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.” Nat Genet 39(9):1127-33 Details

    Tarpey PS, Raymond FL, O'Meara S, Edkins S, Teague J, Butler A, Dicks E, Stevens C, Tofts C, Avis T, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Harrison R, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Moon J, Luo Y, Holder S, Smithson SF, Hurst JA, Clayton-Smith J, Kerr B, Boyle J, Shaw M, Vandeleur L, Rodriguez J, Slaugh R, Easton DF, Wooster R, Bobrow M, Srivastava AK, Stevenson RE, Schwartz CE, Turner G, Gecz J, Futreal PA, Stratton MR, Partington M (2007), “Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.” Am J Hum Genet 80(2):345-52 Details

    Willatt LR, Barber JC, Clarkson A, Simonic I, Raymond FL, Docherty Z, Ogilvie CM (2007), “Novel deletion variants of 9q13-q21.12 and classical euchromatic variants of 9q12/qh involve deletion, duplication and triplication of large tracts of segmentally duplicated pericentromeric euchromatin.” Eur J Hum Genet 15(1):45-52 Details

    Wu Y, Arai AC, Rumbaugh G, Srivastava AK, Turner G, Hayashi T, Suzuki E, Jiang Y, Zhang L, Rodriguez J, Boyle J, Tarpey P, Raymond FL, Nevelsteen J, Froyen G, Stratton M, Futreal A, Gecz J, Stevenson R, Schwartz CE, Valle D, Huganir RL, Wang T (2007), “Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.” Proc Natl Acad Sci U S A 104(46):18163-8 Details

    2006

    Field M, Tarpey P, Boyle J, Edkins S, Goodship J, Luo Y, Moon J, Teague J, Stratton MR, Futreal PA, Wooster R, Raymond FL, Turner G (2006), “Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.” Clin Genet 70(6):509-15 Details

    Gray J, Yeo GS, Cox JJ, Morton J, Adlam AL, Keogh JM, Yanovski JA, El Gharbawy A, Han JC, Tung YC, Hodges JR, Raymond FL, O'rahilly S, Farooqi IS (2006), “Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene.” Diabetes 55(12):3366-71 Details

    Raymond FL (2006), “X linked mental retardation: a clinical guide.” J Med Genet 43(3):193-200 Details

    Raymond FL, Tarpey P (2006), “The genetics of mental retardation.” Hum Mol Genet 15 Spec No 2:R110-6 Details

    Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Bastawrous A, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I (2006), “Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.” Nat Genet 38(11):1242-4 Details

    Tarpey PS, Stevens C, Teague J, Edkins S, O'Meara S, Avis T, Barthorpe S, Buck G, Butler A, Cole J, Dicks E, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, West S, Widaa S, Yates A, Catford R, Butler J, Mallya U, Moon J, Luo Y, Dorkins H, Thompson D, Easton DF, Wooster R, Bobrow M, Carpenter N, Simensen RJ, Schwartz CE, Stevenson RE, Turner G, Partington M, Gecz J, Stratton MR, Futreal PA, Raymond FL (2006), “Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardation.” Am J Hum Genet 79(6):1119-24 Details

    Woods CG, Cox J, Springell K, Hampshire DJ, Mohamed MD, McKibbin M, Stern R, Raymond FL, Sandford R, Malik Sharif S, Karbani G, Ahmed M, Bond J, Clayton D, Inglehearn CF (2006), “Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.” Am J Hum Genet 78(5):889-96 Details

    2005

    Douglas J, Tatton-Brown K, Coleman K, Guerrero S, Berg J, Cole TR, Fitzpatrick D, Gillerot Y, Hughes HE, Pilz D, Raymond FL, Temple IK, Irrthum A, Schouten JP, Rahman N (2005), “Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification.” J Med Genet 42(9):e56 Details

    Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, FitzPatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL (2005), “3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.” Am J Hum Genet 77(1):154-60 Details

    2004

    Holden S, Cox J, Raymond FL (2004), “Cloning, genomic organization, alternative splicing and expression analysis of the human gene WNK3 (PRKWNK3).” Gene 335:109-19 Details

    Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, Cox J, Davies H, Edkins S, Holden S, Korny A, Mallya U, Moon J, O'Meara S, Parker A, Stephens P, Stevens C, Teague J, Donnelly A, Mangelsdorf M, Mulley J, Partington M, Turner G, Stevenson R, Schwartz C, Young I, Easton D, Bobrow M, Futreal PA, Stratton MR, Gecz J, Wooster R, Raymond FL (2004), “Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.” Am J Hum Genet 75(2):318-24 Details

    2003

    Bovie C, Holden ST, Schroer A, Smith E, Trump D, Raymond FL (2003), “Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2).” J Med Genet 40(9):682-4 Details

    Cox JJ, Holden ST, Dee S, Burbridge JI, Raymond FL (2003), “Identification of a 650 kb duplication at the X chromosome breakpoint in a patient with 46,X,t(X;8)(q28;q12) and non-syndromic mental retardation.” J Med Genet 40(3):169-74 Details

    Holden S, Raymond FL (2003), “The human gene CXorf17 encodes a member of a novel family of putative transmembrane proteins: cDNA cloning and characterization of CXorf17 and its mouse ortholog orf34.” Gene 318:149-61 Details

    Raymond FL (2003), “Genetic services for people with intellectual disability and their families.” J Intellect Disabil Res 47(Pt 7):509-14 Details

    1993

    du Souich C, Raymond FL, Grzeschik KH, König A, Boerkoel CF, Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K (1993), NSDHL-Related Disorders,