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School of Medicine

Professor Jill Clayton-Smith MB ChB MD FRCP

Photograph of Jill Clayton-Smith

Honorary Professor in Medical Genetics

Address
Genetic Medicine, Manchester Academic Health Sciences Centre, 6th Floor, St Mary's Hospital, Hathersage Road, Manchester M13 9WL.

 

Role

Consultant Clinical Geneticist , North Western Regional Genetic Service

Honorary Professor in Medical Genetics

Clinical Lead for Research, St Mary's Division, Central Manchester University Hospitals Foundation Trust

 

Memberships of Committees and Professional Bodies

Fellow of Royal College of Physicians of London

British Society for Human Genetics

Clinical Genetics Society

European Society for Human Genetics

American Society of Human Genetics

Leader, Dyscerne Project, European Network of Centres of Expertise in Dysmorphology

Medical Advisor, Angelman Syndrome Support Group

Research

I am a member of the Institute of Health Sciences (IHS) Child Health Research Network.

I have been undertaking research in the field of genetics since 1988 when I held an Action Research Training Fellowship. My research interests have been varied and have included clinical, cytogenetic and molecular genetic projects. My research is largely service driven and aimed at answering questions which arise during my day to day clinical work with individuals with genetic disorders and malformations.

I have had a longstanding interest in Angelman syndrome, a rare learning disability diorder which was the subject of my MD. I have followed up a cohort of individuals with Angelman syndrome for the last twenty years and have written many clinical papers on this condition, and on neurodevelopmental disorders such as Rett syndrome, Mowat Wilson Syndrome and Pitt Hopkins syndrome which come into the differential diagnosis of Angelman syndrome. I have also studied the genetic mechanisms giving rise to Angelman syndrome and have thus become interested in other disorders of genomic imprinting.

Since first observing the problems seen in children exposed to valproic acid in utero in 1995 I have been involved in setting up and undertaking a long term prospective follow-up study of children born to mothers with epilepsy, with a particular interest in fetal valproate syndrome and it's effects both on physical development and on long term development and behaviour. This study has been undertaken with colleagues from the Neurosciences Department at the University of Liverpool and more recently we have joined a multicentre study following a similar cohort of children from the US.

Other patient cohorts we are currently studying include those with Ohdo syndrome, Macrocephaly-Capillary malformation syndrome and Coffin Siris syndrome

I have worked closely with the Regional Cleft Lip and Palate Network for the last 15 years and provide genetic input into the multidisciplinary team. This has led to involvement in the field of orofacial clefting, both the genetic aspects in identifying causative genes and providing input to clinical trials where differentiation of syndromic clefts from non-syndromic clefts is of crucial importance. I am also involved in qualiatative research looking at aspects of genetic service delivery for cleft lip and palate patients.

 

Keywords

  • Dysmorphology
  • Pregnancy and epilepsy
  • Angelman syndrome
  • Cleft genetics

I also have experience of involving children in research.

 

Methodological Knowledge

  • Observational research
  • Action Research
  • Clinical Trials
  • Long-term follow-up studies
  • Qualitative reserach 
 

Teaching

I have a regular teaching committment for 4th year and final year undergraduate medical students. I am also involved in supervision of SSCs, 4th year project options and mentoring of the group of student who are attached to the Clinical Genetics Department for their option.

 I  supervise  MRes student sintercalating between 4th and final years and  MD students

I teach on the MSc genetic counselling course and supevise MSc projects

I act as a mentor for students with special problems

I give a range of lectures to postgraduates form various disciplines and offer teaching in the clinic situation to trainees in various disciplines.

I run the Manchester Dysmorphology Training course for trainees in Clinical Genetics from the UK and the EU.

I have taught on European Training Courses in Genetics as a Faculty Memeber

I facilitate dysmorphology workshops in several European countries including Norway , Denamark and annually at the European Society for Human Genetics Syndrome Identification Workshops.

 

Biography

Qualified in Manchester in 1982 and trained in adult medicine, paediatrics and obstetrics before entering the field of Clinical Genetics in 1986. Clinical Fellow funded by Muscular Dystrophy Group at Institute of Child Health London 1988-89 followed by 3 years as an Action Reserach Training Fellow researching into the Clinical and Genetic Aspects of Angelman Syndrome. Completed clinical training in Manchester and accredited as a Clinical Geneticist in 1993. Appointed to the post of Consultant Clinical Geneticist at St Mary's Hospital, Manchester in 1994. Maintained research interests into Angelman syndrome and related neurodevelopmental disorders. PI on a long term follow up study of children born to mothers with epilepsy, with particular experience of Fetal Valproate Syndrome. Current research interests also involve genetics of orofacial clefting and syndromic eye disease.  Involved in aspects of service delivery for patients with genetic disorders; one of the leaders on a DOH funded project between 2004-2007 developing personal health records for patients with neurofibromatosis, achondroplasia and Di George syndrome. Involved in development of genetic testing fservice for Angelman syndrome in Manchester. Active in several lay groups including those for Angelman syndrome, Mowat wilson Syndrome and NOFAS, National Organisation for Fetal Alcohol Syndrome. Lead the Dyscerne Project network which uses a web-based system for submission of difficult to diagnose cases for expert review. This project has also involved development of clinical guidelines for some of the rare dysmorphic syndromes ( Williams syndrome, Kabuki Syndrome, Angelman Syndrome, Noonan Syndrome). My work in the firled of rare diseases has also involved contribution to EURORDIS, the European rare disease network and the UK Working Group om Rare Disease Strategy.

Current reserach interests involve examining the use of newer genetic technologies , particularly Next Generation Sequencing for Diagnosis of Developmental Disorders and Intellectual Disability. We are working on a project to evaluate the use of this technology in the diagnosis of syndromic learning disability associeted with seizures and movement disorder ( Angelman and Rett-like syndromes). We have also been successful in identifying several genes for multiple anomaly syndromes using this approach.

I have a keen interest in teaching at both undergraduate and postgraduate level. I run an annula manchester Dysmorphology Training course which attracts trainees from throughout Europe and farther afield. I have been a Faculty Memeber on several EU teaching courses. I co-organise the Syndrome Identification workshops at the annual Europena Society of Human Genetics Meetings and the International Manchester Dysmorphology Conference which takes place every two years.

 

Qualifications

MB ChB Hons Manchester 1982

MRCP UK Edinburgh 1985

MD (with gold medal) Manchester 1993

FRCP London 1999

 

Collaborators and affiliated staff

Pregnancy and Epilepsy: Professor Gus Baker, University of Liverpool

                                 Professor Kimford Meador, University of Georgia

Oro-facial Clefting:        Professor Mike Dixon, University of Liverpool

                                 Professor Bill Shaw, University Dental Hospital of Manchester

Array CGH work:

Autozygosity mapping:   Professor Graeme Black, Ophthalmic Genetics, UoM

                                 Dr Bill Newman. Senior Lecturer in Genetics, U of M

Learning disability:        Professor Han Brunner , University of Nijmegen

                                 Professor Stefan Mundlos, University of Berlin

                                Professor Peter Robinson, University of Berlin

Dyscerne Project:         Professor Dian Donnai, University of Manchester

                                 Dr Bronwyn Kerr, Genetics, St Mary's Hospital, Manchester

                                 Dr Kay Metcalfe, Genetics, St Mary's Hospital, Manchester

                                 Professor Koen Devriendt, University of Leuven

                                 Professor Bruno Dalapicolla, University of Rome

                                 Professor Malgorzata Krajewska-Walasek, University of Warsaw

                                 Dr Nicole Philippe, University of Marseille

                                 Dr Ineke Van der Burgt, University of Nijmegen

3D imaging studies:       Professor Peter Hammond, Institute of Child Health, London

 

 

Publications

2011

  • Banka, S., Fitzgibbon, G., Gaunt, L., Rankin, W. & Clayton-Smith, J (2011). A Novel 800 kb Microduplication of Chromosome 16q22.1 Resulting in Learning Disability and Epilepsy May Explain Phenotypic Variability in a Family With 15q13 Microdeletion. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(6), 1453-1457. eScholarID:127551 | DOI:10.1002/ajmg.a.34034
  • Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G. (2011). Whole exome sequencing identifies mutations in histone acetyltransferase KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. American Joiurnal of Human Genetics, 89(5), 7. eScholarID:144049 | DOI:10.1016/j.ajhg.2011.10.008
  • Hannibal, M., Buckingham, K., Ng, S., Ming, J., Beck, A., McMillin, M., Gildersleeve, H., Bigham, A., Tabor, H., Mefford, H., Cook, J., Yoshiura, K., Matsumoto, T., Matsumoto, N., Miyake, N., Tonoki, H., Naritomi, K., Kaname, T., Nagai, T., Ohashi, H., Kurosawa, K., Hou, J., Ohta, T., Liang, D., Sudo, A., Morris, C., Banka, S., Black, G., Clayton-Smith, J., Nickerson, D., Zackai, E., Shaikh, T., Donnai, D., Niikawa, N., Shendure, J. & Bamshad, M (2011). Spectrum of MLL2 (ALR) Mutations in 110 Cases of Kabuki Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(7), 1511-1516. eScholarID:127570 | DOI:10.1002/ajmg.a.34074
  • Lehalle, D., Williams, C., Siu, V. & Clayton-Smith, J (2011). Fetal Pads as a Clue to the Diagnosis of Pitt-Hopkins Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A(7), 1685-1689. eScholarID:127564 | DOI:10.1002/ajmg.a.34055
  • Meador, K., Baker, G., Browning, N., Cohen, M., Clayton-Smith, J., Kalayjian, L., Kanner, A., Liporace, J., Pennell, P., Privitera, M., Loring, D. & Study Grp, N (2011). Foetal antiepileptic drug exposure and verbal versus non-verbal abilities at three years of age. BRAIN, 134, 396-404. eScholarID:127566 | DOI:10.1093/brain/awq352
  • Snape, K., Hanks, S., Ruark, E., Barros-Nunez, P., Elliott, A., Murray, A., Lane, A., Shannon, N., Callier, P., Chitayat, D., Clayton-Smith, J., FitzPatrick, D., Gisselsson, D., Jacquemont, S., Asakura-Hay, K., Micale, M., Tolmie, J., Turnpenny, P., Wright, M., Douglas, J. & Rahman, N (2011). Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. NATURE GENETICS, 43(6), 527-529. eScholarID:127567 | DOI:10.1038/ng.822
  • Wright, E., Donnai, D., Johnson, D. & Clayton-Smith, J (2011). Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome. CLINICAL DYSMORPHOLOGY, 20(1), 15-20. eScholarID:127559 | DOI:10.1097/MCD.0b013e32833e8f1e
  • Wright, E., Spencer, H., Daly, S., Manson, F., Zeef, L., Urquhart, J., Zoppi, N., Bonshek, R., Tosounidis, I., Mohan, M., Madden, C., Dodds, A., Chandler, K., Banka, S., Au, L., Clayton-Smith, J., Khan, N., Biesecker, L., Wilson, M., Rohrbach, M., Colombi, M., Giunta, C. & Black, G (2011). Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance. AMERICAN JOURNAL OF HUMAN GENETICS, 88(6), 767-777. eScholarID:127568 | DOI:10.1016/j.ajhg.2011.05.007

2010

  • Banka, S., Lloyd, I., Black, G., Trueman, S., Gibbs, J. & Clayton-Smith, J (2010). De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability. Clin Dysmorphol, 19(2), 73-5. eScholarID:78918 | PMID:20177379 | DOI:10.1097/MCD.0b013e328331a6d7
  • Banka, S., Lloyd, I., Black, G., Trueman, S., Gibbs, J. & Clayton-Smith, J (2010). De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability. CLINICAL DYSMORPHOLOGY, 19(2), 73-75. eScholarID:127560 | DOI:10.1097/MCD.0b013e328331a6d7
  • Bochukova, E., Huang, N., Keogh, J., Henning, E., Purmann, C., Blaszczyk, K., Saeed, S., Hamilton-Shield, J., Clayton-Smith, J., O'Rahilly, S., Hurles, M. & Farooqi, I (2010). Large, rare chromosomal deletions associated with severe early-onset obesity. NATURE, 463(7281), 666-670. eScholarID:127580 | DOI:10.1038/nature08689
  • Bochukova, E., Huang, N., Keogh, J., Henning, E., Purmann, C., Blaszczyk, K., Saeed, S., Hamilton-Shield, J., Clayton-Smith, J., O'Rahilly, S., Hurles, M. & Farooqi, I (2010). Large, rare chromosomal deletions associated with severe early-onset obesity. Nature, 463(7281), 666-70. eScholarID:78920 | PMID:19966786 | DOI:10.1038/nature08689
  • Bond, S (2010). Cognitive function at 3 years of age after fetal exposure to antiepileptic drugs. JOURNAL OF MIDWIFERY & WOMENS HEALTH, 55(4), 388-389. eScholarID:127558 | DOI:10.1016/j.jmwh.2010.03.013
  • Clayton-Smith, J., Giblin, C., Smith, R., Dunn, C. & Willatt, L (2010). Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder. CLINICAL DYSMORPHOLOGY, 19(3), 128-132. eScholarID:127563 | DOI:10.1097/MCD.0b013e32833a1e3c
  • Li, Y., Pawlik, B., Elcioglu, N., Aglan, M., Kayserili, H., Yigit, G., Percin, F., Goodman, F., Nurnberg, G., Cenani, A., Urquhart, J., Chung, B., Ismail, S., Amr, K., Aslanger, A., Becker, C., Netzer, C., Scambler, P., Eyaid, W., Hamamy, H., Clayton-Smith, J., Hennekam, R., Nurnberg, P., Herz, J., Temtamy, S. & Wollnik, B (2010). LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 86(5), 696-706. eScholarID:127579 | DOI:10.1016/j.ajhg.2010.03.004
  • Mawer, G., Briggs, M., Baker, G., Bromley, R., Coyle, H., Eatock, J., Kerr, L., Kini, U., Kuzmyshcheva, L., Lucas, S., Wyatt, L., Clayton-Smith, J. & . (2010). Pregnancy with epilepsy: obstetric and neonatal outcome of a controlled study. Seizure, 19(2), 112-9. eScholarID:78919 | PMID:20036166 | DOI:10.1016/j.seizure.2009.11.008
  • Mawer, G., Briggs, M., Baker, G., Bromley, R., Coyle, H., Eatock, J., Kerr, L., Kini, U., Kuzmyshcheva, L., Lucas, S., Wyatt, L., Clayton-Smith, J. & Liverpool & Manchester Neurodev, G (2010). Pregnancy with epilepsy: Obstetric and neonatal outcome of a controlled study. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 19(2), 112-119. eScholarID:127578 | DOI:10.1016/j.seizure.2009.11.008
  • Meador, K., Baker, G., Browning, N., Clayton-Smith, J., Combs-Cantrell, D., Cohen, M., Kalayjian, L., Kanner, A., Liporace, J., Pennell, P., Privitera, M., Loring, D. & Study Grp, N (2010). Effects of breastfeeding in children of women taking antiepileptic drugs. NEUROLOGY, 75(22), 1954-1960. eScholarID:127562 | DOI:10.1212/WNL.0b013e3181ffe4a9
  • O'Driscoll, M., Black, G., Clayton-Smith, J., Sherr, E. & Dobyns, W (2010). Identification of Genomic Loci Contributing to Agenesis of the Corpus Callosum. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 152A(9), 2145-2159. eScholarID:127577 | DOI:10.1002/ajmg.a.33558
  • Orrico, A., Galli, L., Faivre, L., Clayton-Smith, J., Azzarello-Burri, S., Hertz, J., Jacquemont, S., Taurisano, R., Carrera, I., Tarantino, E., Devriendt, K., Melis, D., Thelle, T., Meinhardt, U. & Sorrentino, V (2010). Aarskog-Scott Syndrome: Clinical Update and Report of Nine Novel Mutations of the FGD1 Gene. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 152A(2), 313-318. eScholarID:127552 | DOI:10.1002/ajmg.a.33199
  • Ramsden, S., Clayton-Smith, J., Birch, R. & Buiting, K (2010). Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes. BMC MEDICAL GENETICS, 11, eScholarID:127569 | DOI:10.1186/1471-2350-11-70
  • Wright, E., Perveen, R., Bowers, N., Ramsden, S., McCann, E., O'Driscoll, M., Lloyd, I., Clayton-Smith, J. & Black, G (2010). VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype. BRITISH JOURNAL OF OPHTHALMOLOGY, 94(3), 386-388. eScholarID:127572 | DOI:10.1136/bjo.2009.159996

2009

  • Balikova, I., Lehesjoki, A., de Ravel, T., Thienpont, B., Chandler, K., Clayton-Smith, J., Traskelin, A., Fryns, J. & Vermeesch, J (2009). Deletions in the VPS13B(COH1) Gene as a Cause of Cohen Syndrome. HUMAN MUTATION, 30(9), E845-E854. eScholarID:127561 | DOI:10.1002/humu.21065
  • Banka, S., Metcalfe, K. & Clayton-Smith, J (2009). Trisomy 18 mosaicism: 2 more cases and important learning points. JOURNAL OF MEDICAL GENETICS, 46, S38-S38. eScholarID:127571
  • Bromley, R., Shallcross, R., Gummery, A., Mawer, G., Clayton-Smith, J. & Baker, G (2009). BEHAVIORAL ABILITIES OF CHILDREN EXPOSED TO CARBAMAZEPINE OR SODIUM VALPROATE IN UTERO: PRELIMINARY PROSPECTIVE EVIDENCE FROM THE LIVERPOOL AND MANCHESTER NEURO-DEVELOPMENT GROUP. EPILEPSIA, 50, 140-140. eScholarID:127557
  • Clayton-Smith, J., Walters, S., Hobson, E., Burkitt-Wright, E., Smith, R., Toutain, A., Amiel, J., Lyonnet, S., Mansour, S., Fitzpatrick, D., Ciccone, R., Ricca, I., Zuffardi, O. & Donnai, D (2009). Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. EUROPEAN JOURNAL OF HUMAN GENETICS, 17(4), 434-443. eScholarID:127573 | DOI:10.1038/ejhg.2008.192
  • Cole, R., Van Ross, E. & Clayton-Smith, J (2009). Fibular aplasia in a child exposed to sodium valproate in pregnancy. CLINICAL DYSMORPHOLOGY, 18(1), 37-39. eScholarID:127576 | DOI:10.1097/MCD.0b013e3283155170
  • Giorda, R., Bonaglia, M., Beri, S., Fichera, M., Novara, F., Magini, P., Urquhart, J., Sharkey, F., Zucca, C., Grasso, R., Marelli, S., Castiglia, L., Di Benedetto, D., Musumeci, S., Vitello, G., Failla, P., Reitano, S., Avola, E., Bisulli, F., Tinuper, P., Mastrangelo, M., Fiocchi, I., Spaccini, L., Torniero, C., Fontana, E., Lynch, S., Clayton-Smith, J., Black, G., Jonveaux, P., Leheup, B., Seri, M., Romano, C., dalla Bernardina, B. & Zuffardi, O (2009). Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females. Am J Hum Genet, 85(3), 394-400. eScholarID:78921 | PMID:19716111 | DOI:10.1016/j.ajhg.2009.08.001
  • Giorda, R., Bonaglia, M., Beri, S., Fichera, M., Novara, F., Magini, P., Urquhart, J., Sharkey, F., Zucca, C., Grasso, R., Marelli, S., Castiglia, L., Di Benedetto, D., Musumeci, S., Vitello, G., Failla, P., Reitano, S., Avola, E., Bisulli, F., Tinuper, P., Mastrangelo, M., Fiocchi, I., Spaccini, L., Torniero, C., Fontana, E., Lynch, S., Clayton-Smith, J., Black, G., Jonveaux, P., Leheup, B., Seri, M., Romano, C., dalla Bernardina, B. & Zuffardi, O (2009). Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females. AMERICAN JOURNAL OF HUMAN GENETICS, 85(3), 394-400. eScholarID:127574 | DOI:10.1016/j.ajhg.2009.08.001
  • Lacbawan, et al (2009). Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. JOURNAL OF MEDICAL GENETICS, 46(6), 389-398. eScholarID:127556 | DOI:10.1136/jmg.2008.063818
  • Meador, K., Baker, G., Browning, N., Clayton-Smith, J., Combs-Cantrell, D., Cohen, M., Kalayjian, L., Kanner, A., Liporace, J., Pennell, P., Privitera, M., Loring, D. & . (2009). Cognitive function at 3 years of age after fetal exposure to antiepileptic drugs. N Engl J Med, 360(16), 1597-605. eScholarID:78925 | PMID:19369666 | DOI:10.1056/NEJMoa0803531
  • Meador, K., Baker, G., Browning, N., Clayton-Smith, J., Combs-Cantrell, D., Cohen, M., Kalayjian, L., Kanner, A., Liporace, J., Pennell, P., Privitera, M., Loring, D. & Study Grp, N (2009). Cognitive Function at 3 Years of Age after Fetal Exposure to Antiepileptic Drugs. NEW ENGLAND JOURNAL OF MEDICINE, 360(16), 1597-1605. eScholarID:127555 | DOI:10.1056/NEJMoa0803531
  • Meador, K., Cohen, M., Browning, N., Baker, G., Clayton-Smith, J., Pennell, P., Kalayjian, L., Liporace, J., Privitera, M., Kanner, A., Combs-Cantrell, D. & Loring, D (2009). Effects of fetal antiepileptic drug exposure on verbal vs. nonverbal cognitive outcomes at age 3 years. JOURNAL OF THE NEUROLOGICAL SCIENCES, 285, S103-S103. eScholarID:127565 | DOI:10.1016/S0022-510X(09)70419-8
  • Urquhart, J., Black, G. & Clayton-Smith, J (2009). 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. EUROPEAN JOURNAL OF MEDICAL GENETICS, 52(6), 454-457. eScholarID:127553 | DOI:10.1016/j.ejmg.2009.06.003

2008

  • Bromley, R., Mawer, G., Clayton-Smith, J., Baker, G. & Manchester Neurodev, L (2008). AUTISM SPECTRUM DISORDERS FOLLOWING IN UTERO EXPOSURE TO ANTIEPILEPTIC DRUGS. NEUROLOGY, 71(23), 1923-1924. eScholarID:127554 | DOI:10.1212/01.wnl.0000339399.64213.1a
  • Newman, W., Clayton-Smith, J., Metcalfe, K., Cole, R., Tartaglia, M., Brancati, F., Morara, S., Novelli, A., Liu, X., Siminovitch, K., Mundlos, S., Tassabehji, M. & Black, G (2008). Geroderma Osteodysplastica Maps to a 4 Mb Locus on Chromosome 1q24. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 146A(23), 3034-3037. eScholarID:127575 | DOI:10.1002/ajmg.a.32564

2007

  • Cilliers DD, Parveen R, Clayton PE, Cairns S, Clarke S, Shalet SM, Black GCM, Newman WG, Clayton-Smith J. (2007). A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26. European Journal of Medical Genetics, eScholarID:1d15560
  • Newman WG, Hamilton S, Ayres J, Sanghera N, Smith A, Gaunt L, Davies LM, Clayton-Smith J. (2007). Array comparative genomic hybridization for diagnosis of developmental delay - an exploratory cost-consequences analysis. Clinical Genetics, eScholarID:1d15529

2006

  • Kini U, Adab N, Vinten J, Fryer A, Clayton-Smith J. (2006). Dysmorphic features: an important clue to the diagnosis and severity of fetal anticonvulsant syndromes. Arch Dis Child, 91, F90-95. eScholarID:1d13096 | DOI:10.1136/adc.2004.067421

2005

  • Beysen D, Raes J, Leroy JP, Lucassen A, Yates JR, Clayton-Smith, J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Peer YV, Veitia RA, De Paepe A, De Baere E. (2005). Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet, 77, 205-218. eScholarID:1d13097 | DOI:10.1086/432083
  • Hammond, P, Hutton, T, Allanson, J, Buxton, B, Campbell, L, Clayton-Smith, J, Donnai, D, Karmiloff-Smith, A, Metcalfe, K, Murphy, K, Patton, M, Pober, B, Prescott, K, Scambler, P, Shaw, A, Smith, A, Stevens, A, Temple, I, Hennekam, R, Tassabehji, M. (2005). Discriminating power of localized three-dimensional facial morphology. Am J Hum Genet, 77(6), 999-1010. eScholarID:1d13985
  • Meyer, S, Fergusson, W, Oostra, A, Medhurst, A, Waisfisz, Q, de Winter, J, Chen, F, Carr, T, Clayton-Smith, J, Clancy, T, Green, M, Barber, L, Eden, O, Will, A, Joenje, H, Taylor, G. (2005). A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations. Genes Chromosomes Cancer, 42( 4), eScholarID:1d30840

2004

  • Adab, N, Kini, U, Vinten, J, Ayres, J, Baker, G, Clayton-Smith, J, Coyle, H, Fryer, A, Gorry, J, Gregg, J, Mawer, G, Nicolaides, P, Pickering, L, Tunnicliffe, L, Chadwick, D. (2004). The longer term outcome of children born to mothers with epilepsy. J Neurol Neurosurg Psychiatry, 75( 11), 1575-83. eScholarID:1d10807

2003

  • Clayton-Smith J, Laan LAEM. (2003). Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet, 40, 87-92. eScholarID:1d9657
  • Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Bacino C, Becker K, Clayton-Smith, J, Giovannucci-Uzielli M, Goh D, Grange D, Krajewska-Walasek M , Lacombe D , Morris C , Odent S, Savairayan R, Stratton R, Superti-Furga A , Verloes A , Vigneron J , Wilcox W , Winter R, Young K , Wilkie AO. (2003). Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nature Genetics, 33, 487-491. eScholarID:1d9659

2002

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