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Research and publications

The Clinical Genetics Unit works closely with the Molecular Medicine Unit and the Clinical and Molecular Genetics Unit at the Institute of Child Health in a number of areas of research and a number of the consultants have joint appointments with dedicated research time.

Research

The department also work with researchers from across the UK and internationally to recruit to a wide variety of research studies relevant to the children and families seen in our clinics.
 
The principal focus of the research is the delineation of genetic disorders and the identification and clinical translation of their underlying causes. Particular areas of research expertise include clinical dysmorphology, the genetics of cleft lip and palate, the genetics of hearing loss, Fragile X syndrome, skeletal dysplasias and prenatal diagnosis.

Publications

Reference 1:
Kurian MA, Morgan NV, MacPherson L, Foster K, Peake D, Gupta R, Philip SG, Hendriksz C, Morton JE, Kingston HM, Rosser EM, Wassmer E, Gissen P, Maher ER (2008) Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).. Neurology 70 (18): 1623-9
Reference 2:
Rinne T, Clements SE, Lamme E, Duijf PH, Bolat E, Meijer R, Scheffer H, Rosser E, Tan TY, McGrath JA, Schalkwijk J, Brunner HG, Zhou H, van Bokhoven H (2008) A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.. Hum Mol Genet 17 (13): 1968-77
Reference 3:
Webber N, O'Toole EA, Paige DG, Rosser E (2008) Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II.. Pediatr Dermatol 25 (3): 401-2
Reference 4:
van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K, Fraser Syndrome Collaboration Group, Hennekam RC, Scambler PJ (2008) Molecular study of 33 families with Fraser syndrome new data and mutation review.. Am J Med Genet A 146A (17): 2252-7
Reference 5:
Hussain K, Padidela R, Kapoor RR, James C, Banerjee K, Harper J, Wilson LC, Hennekam RC (2009) Diabetes mellitus, exocrine pancreatic deficiency, hypertrichosis, hyperpigmentation, and chronic inflammation: confirmation of a syndrome.. Pediatr Diabetes 10 (3): 193-7
Reference 6:
Beysen D, De Jaegere S, Amor D, Bouchard P, Christin-Maitre S, Fellous M, Touraine P, Grix AW, Hennekam R, Meire F, Oyen N, Wilson LC, Barel D, Clayton-Smith J, de Ravel T, Decock C, Delbeke P, Ensenauer R, Ebinger F, Gillessen-Kaesbach G, Hendriks Y, Kimonis V, Laframboise R, Laissue P, Leppig K, Leroy BP, Miller DT, Mowat D, Neumann L, Plomp A, Van Regemorter N, Wieczorek D, Veitia RA, De Paepe A, De Baere E (2008) Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.. Hum Mutat 29 (11): E205-19
Reference 7:
Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Miñaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP (2009) Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.. Nat Genet 41 (1): 95-100
Reference 8:
Hunter A, Frias JL, Gillessen-Kaesbach G, Hughes H, Jones KL, Wilson L (2009) Elements of morphology: standard terminology for the ear.. Am J Med Genet A 149A (1): 40-60
Reference 9:
Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S (2009) Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.. Nat Genet 41 (3): 359-64
Reference 10:
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L, International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM (2008) RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.. Clin Genet 74 (2): 164-70
Reference 11:
Allotey J, Lacaille F, Lees MM, Strautnieks S, Thompson RJ, Davenport M (2008) Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy.. J Pediatr Surg 43 (9): 1736-40
Reference 12:
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
Reference 13:
Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE (2008) Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.. N Engl J Med 359 (16): 1685-99
Reference 14:
Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M (2009) SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.. J Med Genet 46 (7): 431-7
Reference 15:
Burn J, Bishop DT, Mecklin JP, Macrae F, Möslein G, Olschwang S, Bisgaard ML, Ramesar R, Eccles D, Maher ER, Bertario L, Jarvinen HJ, Lindblom A, Evans DG, Lubinski J, Morrison PJ, Ho JW, Vasen HF, Side L, Thomas HJ, Scott RJ, Dunlop M, Barker G, Elliott F, Jass JR, Fodde R, Lynch HT, Mathers JC, CAPP2 Investigators (2008) Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome.. N Engl J Med 359 (24): 2567-78
Reference 16:
Rebbeck TR, Antoniou AC, Llopis TC, Nevanlinna H, Aittomäki K, Simard J, Spurdle AB, KConFab, Couch FJ, Pereira LH, Greene MH, Andrulis IL, Ontario Cancer Genetics Network, Pasche B, Kaklamani V, Breast Cancer Family Registry, Hamann U, Szabo C, Peock S, Cook M, Harrington PA, Donaldson A, Male AM, Gardiner CA, Gregory H, Side LE, Robinson AC, Emmerson L, Ellis I, EMBRACE, Peyrat JP, Fournier J, Vennin P, Adenis C, Muller D, Fricker JP, Longy M, Sinilnikova OM, Stoppa-Lyonnet D, GEMO, Schmutzler RK, Versmold B, Engel C, Meindl A, Kast K, Schaefer D, Froster UG, Chenevix-Trench G, Easton DF (2009) No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study.. Breast Cancer Res Treat 115 (1): 185-92
Reference 17:
Bitner-Glindzicz M, Pembrey M, Duncan A, Heron J, Ring SM, Hall A, Rahman S (2009) Prevalence of mitochondrial 1555A-->G mutation in European children.. N Engl J Med 360 (6): 640-2
Reference 18:
Saihan Z, Webster AR, Luxon L, Bitner-Glindzicz M (2009) Update on Usher syndrome.. Curr Opin Neurol 22 (1): 19-27
Reference 19:
Bajaj Y, Sirimanna T, Albert DM, Qadir P, Jenkins L, Cortina-Borja M, Bitner-Glindzicz M (2009) Causes of deafness in British Bangladeshi children: a prevalence twice that of the UK population cannot be accounted for by consanguinity alone.. Clin Otolaryngol 34 (2): 113-9
Reference 20:
Bajaj Y, Sirimanna T, Albert DM, Qadir P, Jenkins L, Bitner-Glindzicz M (2008) Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population.. Clin Otolaryngol 33 (4): 313-8
Reference 21:
Park S, Jamshidi Y, Vaideanu D, Bitner-Glindzicz M, Fraser S, Sowden JC (2009) Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes.. Invest Ophthalmol Vis Sci 50 (4): 1522-30
Reference 22:
Taanman JW, Rahman S, Pagnamenta AT, Morris AA, Bitner-Glindzicz M, Wolf NI, Leonard JV, Clayton PT, Schapira AH (2009) Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.. Hum Mutat 30 (2): 248-54
Reference 23:
Tuschl K, Mills PB, Parsons H, Malone M, Fowler D, Bitner-Glindzicz M, Clayton PT (2008) Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia-A new metabolic disorder.. J Inherit Metab Dis E-pub: E-pub
Reference 24:
Kenny J, Lees MM, Drury S, Barnicoat A, Van't Hoff W, Palmer R, Morrogh D, Waters JJ, Lench NJ, Bockenhauer D (2011) Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.. Pediatr Nephrol 26 (8): 1331-4
Reference 25:
Bishop DV, Jacobs PA, Lachlan K, Wellesley D, Barnicoat A, Boyd PA, Fryer A, Middlemiss P, Smithson S, Metcalfe K, Shears D, Leggett V, Nation K, Scerif G (2011) Autism, language and communication in children with sex chromosome trisomies.. Arch Dis Child 96 (10): 954-9
Reference 26:
Brain CE, Creighton SM, Mushtaq I, Carmichael PA, Barnicoat A, Honour JW, Larcher V, Achermann JC (2010) Holistic management of DSD.. Best Pract Res Clin Endocrinol Metab 24 (2): 335-54
Reference 27:
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D (2009) Expanding CEP290 mutational spectrum in ciliopathies.. Am J Med Genet A 149A (10): 2173-80
Reference 28:
Turnbull C, Ruddy D, Barnicoat A (2009) Nasopharyngeal teratoma and diaphragmatic hernia: no longer a random association but a new syndrome?. Clin Dysmorphol 18 (3): 131-4
Reference 29:
Cullinane AR, Straatman-Iwanowska A, Seo JK, Ko JS, Song KS, Gizewska M, Gruszfeld D, Gliwicz D, Tuysuz B, Erdemir G, Sougrat R, Wakabayashi Y, Hinds R, Barnicoat A, Mandel H, Chitayat D, Fischler B, Garcia-Cazorla A, Knisely AS, Kelly DA, Maher ER, Gissen P (2009) Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.. Hum Mutat 30 (2): E330-7
Reference 30:
Glancy M, Barnicoat A, Vijeratnam R, de Souza S, Gilmore J, Huang S, Maloney VK, Thomas NS, Bunyan DJ, Jackson A, Barber JC (2009) Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties.. Eur J Hum Genet 17 (1): 37-43
Reference 31:
Robb SA, Sewry CA, Dowling JJ, Feng L, Cullup T, Lillis S, Abbs S, Lees MM, Laporte J, Manzur AY, Knight RK, Mills KR, Pike MG, Kress W, Beeson D, Jungbluth H, Pitt MC, Muntoni F (2011) Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies.. Neuromuscul Disord 21 (6): 379-86
Reference 32:
Horev L, Lees MM, Anteby I, Gomori JM, Gunny R, Ben-Neriah Z (2011) Oculoectodermal syndrome with coarctation of the aorta and moyamoya disease: expanding the phenotype to include vascular anomalies.. Am J Med Genet A 155A (3): 577-81
Reference 33:
Twigg SR, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IM, Wilkie AO (2009) Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.. Am J Hum Genet 84 (5): 698-705
Reference 34:
Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S (2009) Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.. Nat Genet 41 (3): 359-64
Reference 35:
Allotey J, Lacaille F, Lees MM, Strautnieks S, Thompson RJ, Davenport M (2008) Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy.. J Pediatr Surg 43 (9): 1736-40
Reference 36:
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P, International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM (2010) Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.. Hum Mutat 31 (5): E1319-31
Reference 37:
Cullinane AR, Straatman-Iwanowska A, Seo JK, Ko JS, Song KS, Gizewska M, Gruszfeld D, Gliwicz D, Tuysuz B, Erdemir G, Sougrat R, Wakabayashi Y, Hinds R, Barnicoat A, Mandel H, Chitayat D, Fischler B, Garcia-Cazorla A, Knisely AS, Kelly DA, Maher ER, Gissen P (2009) Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.. Hum Mutat 30 (2): E330-7
Reference 38:
Nopoulos PC, Aylward EH, Ross CA, Johnson HJ, Magnotta VA, Juhl AR, Pierson RK, Mills J, Langbehn DR, Paulsen JS, PREDICT-HD Investigators Coordinators of Huntington Study Group (HSG) (2010) Cerebral cortex structure in prodromal Huntington disease.. Neurobiol Dis 40 (3): 544-54
Reference 39:
Van Esch H, Rosser EM, Janssens S, Van Ingelghem I, Loeys B, Menten B (2010) Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14.. J Med Genet 47 (10): 717-20
Reference 40:
Soneson C, Fontes M, Zhou Y, Denisov V, Paulsen JS, Kirik D, Petersén A, Huntington Study Group PREDICT-HD investigators (2010) Early changes in the hypothalamic region in prodromal Huntington disease revealed by MRI analysis.. Neurobiol Dis 40 (3): 531-43
Reference 41:
Duff K, Paulsen J, Mills J, Beglinger LJ, Moser DJ, Smith MM, Langbehn D, Stout J, Queller S, Harrington DL, PREDICT-HD Investigators and Coordinators of the Huntington Study Group (2010) Mild cognitive impairment in prediagnosed Huntington disease.. Neurology 75 (6): 500-7
Reference 42:
Sousa SB, Abdul-Rahman OA, Bottani A, Cormier-Daire V, Fryer A, Gillessen-Kaesbach G, Horn D, Josifova D, Kuechler A, Lees M, MacDermot K, Magee A, Morice-Picard F, Rosser E, Sarkar A, Shannon N, Stolte-Dijkstra I, Verloes A, Wakeling E, Wilson L, Hennekam RC (2009) Nicolaides-Baraitser syndrome: Delineation of the phenotype.. Am J Med Genet A 149A (8): 1628-40
Reference 43:
Biglan KM, Ross CA, Langbehn DR, Aylward EH, Stout JC, Queller S, Carlozzi NE, Duff K, Beglinger LJ, Paulsen JS, PREDICT-HD Investigators of the Huntington Study Group (2009) Motor abnormalities in premanifest persons with Huntington's disease: the PREDICT-HD study.. Mov Disord 24 (12): 1763-72
Reference 44:
Langbehn DR, Hayden MR, Paulsen JS, PREDICT-HD Investigators of the Huntington Study Group (2010) CAG-repeat length and the age of onset in Huntington disease (HD): a review and validation study of statistical approaches.. Am J Med Genet B Neuropsychiatr Genet 153B (2): 397-408
Reference 45:
Slade I, Stephens P, Douglas J, Barker K, Stebbings L, Abbaszadeh F, Pritchard-Jones K, FACT collaboration, Cole R, Pizer B, Stiller C, Vujanic G, Scott RH, Stratton MR, Rahman N (2010) Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene.. J Med Genet 47 (5): 342-7
Reference 46:
Capasso M, Devoto M, Hou C, Asgharzadeh S, Glessner JT, Attiyeh EF, Mosse YP, Kim C, Diskin SJ, Cole KA, Bosse K, Diamond M, Laudenslager M, Winter C, Bradfield JP, Scott RH, Jagannathan J, Garris M, McConville C, London WB, Seeger RC, Grant SF, Li H, Rahman N, Rappaport E, Hakonarson H, Maris JM (2009) Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.. Nat Genet 41 (6): 718-23
Reference 47:
Scott RH, Douglas J, Baskcomb L, Huxter N, Barker K, Hanks S, Craft A, Gerrard M, Kohler JA, Levitt GA, Picton S, Pizer B, Ronghe MD, Williams D, Factors Associated with Childhood Tumours (FACT) Collaboration, Cook JA, Pujol P, Maher ER, Birch JM, Stiller CA, Pritchard-Jones K, Rahman N (2008) Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.. Nat Genet 40 (11): 1329-34
Reference 48:
Maris JM, Mosse YP, Bradfield JP, Hou C, Monni S, Scott RH, Asgharzadeh S, Attiyeh EF, Diskin SJ, Laudenslager M, Winter C, Cole KA, Glessner JT, Kim C, Frackelton EC, Casalunovo T, Eckert AW, Capasso M, Rappaport EF, McConville C, London WB, Seeger RC, Rahman N, Devoto M, Grant SF, Li H, Hakonarson H (2008) Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.. N Engl J Med 358 (24): 2585-93
Reference 49:
Scott RH, Douglas J, Baskcomb L, Nygren AO, Birch JM, Cole TR, Cormier-Daire V, Eastwood DM, Garcia-Minaur S, Lupunzina P, Tatton-Brown K, Bliek J, Maher ER, Rahman N (2008) Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation.. J Med Genet 45 (2): 106-13
Reference 50:
Rahman N, Scott RH (2007) Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players.. Hum Mol Genet 16 Spec No 1 (): R60-6
Reference 51:
Scott RH, Homfray T, Huxter NL, Mitton SG, Nash R, Potter MN, Lancaster D, Rahman N (2007) Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations.. J Med Genet 44 (7): e83
Reference 52:
Scott RH, Mansour S, Pritchard-Jones K, Kumar D, MacSweeney F, Rahman N (2007) Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations.. Nat Clin Pract Oncol 4 (2): 130-4
Reference 53:
Scott RH, Walker L, Olsen ØE, Levitt G, Kenney I, Maher E, Owens CM, Pritchard-Jones K, Craft A, Rahman N (2006) Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice.. Arch Dis Child 91 (12): 995-9
Reference 54:
Scott RH, Stiller CA, Walker L, Rahman N (2006) Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour.. J Med Genet 43 (9): 705-15
Reference 55:
Scott R, Aladangady N, Maalouf E (2004) Neonatal hypopituitarism presenting with poor feeding, hypoglycemia and prolonged unconjugated hyperbilirubinemia.. J Matern Fetal Neonatal Med 16 (2): 131-3
Reference 56:
Hurst JA, Jenkins D, Vasudevan PC, Kirchhoff M, Skovby F, Rieubland C, Gallati S, Rittinger O, Kroisel PM, Johnson D, Biesecker LG, Wilkie AO (2011) Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.. Eur J Hum Genet 19 (7): 757-62
Reference 57:
Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJ, Lester T, Richards PG, Twigg SR, Wall SA (2010) Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.. Pediatrics 126 (2): e391-400
Reference 58:
White SM, Morgan A, Da Costa A, Lacombe D, Knight SJ, Houlston R, Whiteford ML, Newbury-Ecob RA, Hurst JA (2010) The phenotype of Floating-Harbor syndrome in 10 patients.. Am J Med Genet A 152A (4): 821-9
Reference 59:
Jenkins D, Baynam G, De Catte L, Elcioglu N, Gabbett MT, Hudgins L, Hurst JA, Jehee FS, Oley C, Wilkie AO (2011) Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.. Hum Mutat 32 (4): E2069-78
Reference 60:
Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V (2011) Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.. J Med Genet 48 (6): 417-21
Reference 61:
Kini U, Hurst JA, Byren JC, Wall SA, Johnson D, Wilkie AO (2010) Etiological heterogeneity and clinical characteristics of metopic synostosis: Evidence from a tertiary craniofacial unit.. Am J Med Genet A 152A (6): 1383-9
Reference 62:
Wilkie AO, Byren JC, Hurst JA, Jayamohan J, Johnson D, Knight SJ, Lester T, Richards PG, Twigg SR, Wall SA (2010) Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.. Pediatrics 126 (2): e391-400
Reference 63:
Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW (2010) Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.. J Med Genet 47 (1): 30-7
Reference 64:
Shaw A, Hurst JA (2009) 'I don't see any point in telling them': attitudes to sharing genetic information in the family and carrier testing of relatives among British Pakistani adults referred to a genetics clinic.. Ethn Health 14 (2): 205-24
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Textbooks

Oxford Desk Reference: Clinical Genetics by Firth HV, Hurst JA with Hall JG (Advisory editor) ISBN 0-19-262896-8 OUP July 2005

Oxford Handbook of Genetics: Guy Bradley-Smith, Sally Hope, Helen V. Firth and Jane A. Hurst ISBN13: 9780199545360ISBN10: 0199545367 OUP 2009.

Chapters

Lees MM Cleft Lip and Palate in “Paediatric Surgery” edited by Mark Davenport and Agostino Peirro, 2009

Side LE. Genetic Counselling and Clinical Cancer Genetics. In Clinical Endocrine Oncology (Eds Wass J, Turner H, Hay I).  Blackwell, Oxford 2008.

Wilson LC. Albright’s Hereditary Osteodystrophy and Related Disorders. Obesity Syndromes. Ed. Beales P. (2009). Oxford University Press. ISBN 978-0-19-530016-1

Shaw, A. & J. Hurst. In press. Ideas about the causes of Inherited Illness among British Pakistani Users of Genetic Services.  In: Dhavendra Kumar (ed.) Genomics and Health in The Developing World, Oxford University Press.

This link goes to the page "your views matter"
Improve wayfinding at Great Ormond Street Hospital