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Jill Clayton-Smith

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Rebecca Louise Bromley; Christopher Cheyne; Jill Clayton-Smith; Marta García-Fiñana; Rachel Kneen; Sam B Lucas; George E Mawer; Rebekah Shallcross; Gus A Baker; Maria Briggs
The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs.
Siddharth Banka; Kay Metcalfe; Jill Clayton-Smith
Trisomy 18 mosaicism: report of two cases.
Kimford J Meador; Page B Pennell; Michael Privitera; Gus A Baker; Rebecca L Bromley; Nancy Browning; Jill Clayton-Smith; Morris J Cohen; Laura A Kalayjian; Andres Kanner; Joyce Liporace; David W Loring
Fetal antiepileptic drug exposure and cognitive outcomes at age 6 years (NEAD study): a prospective observational study.

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2013: Rebecca Louise Bromley; Christopher Cheyne; Jill Clayton-Smith; Marta García-Fiñana; Rachel Kneen; Sam B Lucas; George E Mawer; Rebekah Shallcross; Gus A Baker; Maria Briggs
The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs.
Journal of neurology, neurosurgery, and psychiatry 2013;84(6):637-43.
2013: Siddharth Banka; Kay Metcalfe; Jill Clayton-Smith
Trisomy 18 mosaicism: report of two cases.
World journal of pediatrics : WJP 2013;9(2):179-81.
2013: Kimford J Meador; Page B Pennell; Michael Privitera; Gus A Baker; Rebecca L Bromley; Nancy Browning; Jill Clayton-Smith; Morris J Cohen; Laura A Kalayjian; Andres Kanner; Joyce Liporace; David W Loring
Fetal antiepileptic drug exposure and cognitive outcomes at age 6 years (NEAD study): a prospective observational study.
Lancet neurology 2013;12(3):244-52.
2013: Lucas Fares-Taie; Xavier GERARD; Sylvie Gerber; Sylvain Hanein; Josseline Kaplan; Stanislas LYONNET; Arnold Munnich; Patrick Nitschke; Ghislaine Plessis; Nicola Ragge; Clarisse Baumann; Christine Bole; Lionel Brétillon; Patrick Calvas; Nicolas Chassaing; Jill Clayton-Smith; Bénédicte Demeer; Margaux Serey; Valérie Serre; Eduardo Silva; Jean-Michel Rozet
ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.
American journal of human genetics 2013;92(2):265-70.
2013: Julien Thevenon; Annick Toutain; Joris Andrieux; Marlène Bonnet; Patrick Callier; Virginie Carmignac; Jill Clayton-Smith; Albert David; Bruno Delobel; Sandra Farrell; Lorraine Gaunt; Cédric Le Caignec; Fabienne Levy; N Marle; Alice Masurel-Paulet; Delphine Minot; Laure Mosca Anne; Francine Mugneret; Damien Sanlaville; Sylvie Sukno; Christel Thauvin-Robinet; Laurence Faivre
12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.
European journal of human genetics : EJHG 2013;21(1):82-8.
2012: Sofia Douzgou; Elizabeth Jones; Bronwyn Kerr; Kay Metcalfe; Catherine Breen; Kate Chandler; Yanick J Crow; Jill Clayton-Smith
Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies.
Archives of disease in childhood 2012;97(9):812-7.
2012: Mathilde Nizon; Antonio Rossi; David Sillence; Beyhan Tuysuz; Merel C Van Maarle; Catheline Vilain; Ian Young; Klaus Zerres; Fabio De Leonardis; Julie Désir; Antonella Forlino; Mélanie Fradin; Harinder Gill; Marie T Greally; Céline Huber; Erkan Koparir; Carine Le Goff; Martine Le Merrer; Sara MacKay; Rodolphe Merrina; Geert Mortier; Jenny Morton; Arnold Munnich; Bassam Y Abu-Libdeh; Yasemin Alanay; Beate Albrecht; Lihadh Al-Gazali; Sarenur Yilmaz Basaran; Jill Clayton-Smith; Valérie Cormier-Daire
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Human mutation 2012;33(8):1261-6.
2012: Jan Novy; Shelagh M Smith; Claudia Bacanhim Catarino; Krishna Chinthapalli; Jill Clayton-Smith; Peter Hammond; Raoul C M Hennekam; Sanjay M Sisodiya
Another cause of vaccine encephalopathy: a case of Angelman syndrome.
European journal of medical genetics 2012;55(5):338-41.
2012: Emma M Jenkinson; Sarju Mehta; Natalie Moreton; Christopher Bennett; Deirdre Cilliers; Jill Clayton-Smith; Gerard S Conway; Julian R E Davis; Giuseppe De Michele; Andrew Green; Simon H S Pearce; Willie Reardon; Dorothy Trump; William G Newman
Perrault syndrome: further evidence for genetic heterogeneity.
Journal of neurology 2012;259(5):974-6.
2012: Kimford J Meador; Page B Pennell; M Privitera; G A Baker; R L Bromley; N Browning; Jill Clayton-Smith; M J Cohen; L A Kalayjian; A Kanner; Joyce Liporace; D W Loring
Effects of fetal antiepileptic drug exposure: outcomes at age 4.5 years.
Neurology 2012;78(16):1207-14.
2011: Jill Clayton-Smith; Sarah Daly; Ruth Day; Dian Donnai; Alan Fryer; Bronwyn Kerr; Malgorzata Krajewska-Walasek; Sally-Ann Lynch; Sahar Mansour; Shane McKee; Shehla Mohammed; James O'Sullivan; Janine Smith; Philip Smith; Elizabeth Sweeney; May Tassabehji; Tim Thomas; Anne K Voss; Beverley Anderson; Sanjeev Bhaskar; Leslie G Biesecker; Kate E Chandler; Graeme Black
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
American journal of human genetics 2011;89(5):675-81.
2011: Alfredo Orrico; Lucia Galli; Jill Clayton-Smith; Jean-Pierre Fryns
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
European journal of human genetics : EJHG 2011;19(11):.
2011: Morris J Cohen; Laura A Kalayjian; Andres Kanner; Joyce D Liporace; Gus A Baker; Nancy Browning; Jill Clayton-Smith; Kimford J Meador; Page B Pennell; Michael Privitera; David W Loring
Fetal antiepileptic drug exposure: motor, adaptive, and emotional/behavioral functioning at age 3 years.
Epilepsy & behavior : E&B 2011;22(2):240-6.
2011: Alma Kuechler; Cédric Le Caignec; Francesca Mari; Geert Mortier; Alessandra Renieri; Karen Buysse; Jill Clayton-Smith; Albert David; Hartmut Engels; Jürgen Kohlhase; Dagmar Wieczorek
Five patients with novel overlapping interstitial deletions in 8q22.2q22.3.
American journal of medical genetics. Part A 2011;155A(8):1857-64.
2011: Daphne Lehalle; Victoria Mok Siu; Charles Williams; Jill Clayton-Smith
Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome.
American journal of medical genetics. Part A 2011;155A(7):1685-9.
2011: Emma M M Burkitt Wright; Kate Chandler; Jill Clayton-Smith; Marina Colombi; Sarah B Daly; Annabel Dodds; Cecilia Giunta; Naz Khan; Colm Madden; Forbes D C Manson; Meyyammai Mohan; Marianne Rohrbach; Helen L Spencer; Ioannis Tosounidis; Jill Urquhart; Meredith Wilson; Leo A H Zeef; Nicoletta Zoppi; Leon Au; Siddharth Banka; Leslie G Biesecker; Richard Bonshek; Graeme C M Black
Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.
American journal of human genetics 2011;88(6):767-77.
2011: Siddharth Banka; Gregory J Fitzgibbon; Lorraine Gaunt; Wendy J Rankin; Jill Clayton-Smith
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 2011;155A(6):1453-7.
2011: Katie Snape; Sandra Hanks; Elise Ruark; Patricio Barros-Núñez; Anna Elliott; Anne Murray; Andrew H Lane; Nora Shannon; Patrick Callier; David Chitayat; Jill Clayton-Smith; David R Fitzpatrick; David Gisselsson; Sebastien Jacquemont; Keiko Asakura-Hay; Mark A Micale; John Tolmie; Peter D Turnpenny; Michael Wright; Jenny Douglas; Nazneen Rahman
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Nature genetics 2011;43(6):527-9.
2011: Kimford J Meador; Page B Pennell; Michael Privitera; Gus A Baker; Nancy Browning; Jill Clayton-Smith; Morris J Cohen; Laura A Kalayjian; Andres Kanner; Joyce D Liporace; David W Loring
Relationship of child IQ to parental IQ and education in children with fetal antiepileptic drug exposure.
Epilepsy & behavior : E&B 2011;21(2):147-52.
2011: Kimford J Meador; Gus A Baker; Nancy Browning; Morris J Cohen; Jill Clayton-Smith; Laura A Kalayjian; Andres Kanner; Joyce D Liporace; Page B Pennell; Michael Privitera; David W Loring
Foetal antiepileptic drug exposure and verbal versus non-verbal abilities at three years of age.
Brain : a journal of neurology 2011;134(Pt 2):396-404.
2011: Emma Burkitt Wright; Dian Donnai; Diana Johnson; Jill Clayton-Smith
Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome.
Clinical dysmorphology 2011;20(1):15-20.
2010: Kimford J Meador; G A Baker; N Browning; Jill Clayton-Smith; D T Combs-Cantrell; Morris J Cohen; L A Kalayjian; A Kanner; J D Liporace; Page B Pennell; M Privitera; D W Loring
Effects of breastfeeding in children of women taking antiepileptic drugs.
Neurology 2010;75(22):1954-60.
2010: Mary C O'Driscoll; Graeme C M Black; Jill Clayton-Smith; Elliott H Sherr; William B Dobyns
Identification of genomic loci contributing to agenesis of the corpus callosum.
American journal of medical genetics. Part A 2010;152A(9):2145-59.
2010: Jill Clayton-Smith; Carol Giblin; Rupert A Smith; Carolyn Dunn; Lionel Willatt
Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder.
Clinical dysmorphology 2010;19(3):128-32.
2010: Yun Li; Barbara Pawlik; Nursel Elcioglu; Mona Aglan; Hulya Kayserili; Gökhan Yigit; Ferda Percin; Frances Goodman; Gudrun Nürnberg; Asim Cenani; Jill Urquhart; Boi-Dinh Chung; Samira Ismail; Khalda Amr; Ayca D Aslanger; Christian Becker; Christian Netzer; Peter J Scambler; Wafaa Eyaid; Hanan Hamamy; Jill Clayton-Smith; Raoul Hennekam; Peter Nürnberg; Joachim Herz; Samia A Temtamy; Bernd Wollnik
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
American journal of human genetics 2010;86(5):696-706.
2010: Siddharth Banka; Christopher Lloyd; Graeme Black; Stephen Trueman; John Gibbs; Jill Clayton-Smith
De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability.
Clinical dysmorphology 2010;19(2):73-5.
2010: Emma M M Burkitt Wright; Rahat Perveen; Naomi Bowers; Simon Ramsden; Emma McCann; Mary O'Driscoll; Christopher Lloyd; Jill Clayton-Smith; Graeme C M Black
VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype.
The British journal of ophthalmology 2010;94(3):386-8.
2010: G Mawer; M Briggs; G A Baker; R Bromley; H Coyle; J Eatock; L Kerr; Usha Kini; L Kuzmyshcheva; S B Lucas; L Wyatt; Jill Clayton-Smith
Pregnancy with epilepsy: obstetric and neonatal outcome of a controlled study.
Seizure : the journal of the British Epilepsy Association 2010;19(2):112-9.
2010: Elena G Bochukova; Ni Huang; Julia Keogh; Elana Henning; Carolin Purmann; Kasia Blaszczyk; Sadia Saeed; Julian Hamilton-Shield; Jill Clayton-Smith; Stephen O'Rahilly; Matthew E Hurles; I Sadaf Farooqi
Large, rare chromosomal deletions associated with severe early-onset obesity.
Nature 2010;463(7281):666-70.
2010: Simon Ramsden; Jill Clayton-Smith; Rachael Birch; Karin Buiting
Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes.
BMC medical genetics 2010;11():70.
2009: Jill Urquhart; Graeme C M Black; Jill Clayton-Smith
4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.
European journal of medical genetics 2009;52(6):454-7.
2009: Kimford J Meador; Gus A Baker; Nancy Browning; Jill Clayton-Smith; Deborah T Combs-Cantrell; Morris J Cohen; Laura A Kalayjian; Andres Kanner; Joyce D Liporace; Page B Pennell; Michael Privitera; David W Loring
Cognitive function at 3 years of age after fetal exposure to antiepileptic drugs.
The New England journal of medicine 2009;360(16):1597-605.
2009: Jill Clayton-Smith; Sarah Walters; Emma Hobson; Emma Burkitt-Wright; Rupert Smith; Annick Toutain; Jeanne Amiel; Stanislas Lyonnet; Sahar Mansour; David Fitzpatrick; Roberto Ciccone; Ivana Ricca; Orsetta Zuffardi; Dian Donnai
Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.
European journal of human genetics : EJHG 2009;17(4):434-43.
2009: Rachel Louise Cole; Ernest R Van Ross; Jill Clayton-Smith
Fibular aplasia in a child exposed to sodium valproate in pregnancy.
Clinical dysmorphology 2009;18(1):37-9.
2008: William G Newman; Jill Clayton-Smith; Kay Metcalfe; Rachel Cole; Marco Tartaglia; Francesco Brancati; Sara Morara; Antonio Novelli; Xiangdong Liu; Katherine A Siminovitch; Stefan Mundlos; May Tassabehji; Graeme C M Black
Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24.
American journal of medical genetics. Part A 2008;146A(23):3034-7.
2008: Hans Christian Hennies; Uwe Kornak; Haikuo Zhang; Johannes Egerer; Xin Zhang; Wenke Seifert; Jirko Kühnisch; Birgit Budde; Marc Nätebus; Francesco Brancati; William R Wilcox; Dietmar Müller; Paige B Kaplan; Anna Rajab; Giuseppe Zampino; Valentina Fodale; Bruno Dallapiccola; William Newman; Kay Metcalfe; Jill Clayton-Smith; May Tassabehji; Beat Steinmann; Francis A Barr; Peter Nürnberg; Peter Wieacker; Stefan Mundlos
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Nature genetics 2008;40(12):1410-2.
2008: Christiane Zweier; H Sticht; E K Bijlsma; Jill Clayton-Smith; S E Boonen; A Fryer; M T Greally; L Hoffmann; N S den Hollander; M Jongmans; S G Kant; M D King; S A Lynch; S McKee; A T Midro; S-M Park; V Ricotti; E Tarantino; M Wessels; M Peippo; Anita Rauch
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
Journal of medical genetics 2008;45(11):738-44.
2008: Dian Donnai; Jill Clayton-Smith; Michael Baraitser
Complementation in a 45,X/47,XX,+14 patient?
Clinical dysmorphology 2008;17(4):291.
2008: Paul S Cannon; Jill Clayton-Smith; Philip L Beales; Christopher Lloyd
Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.
Ophthalmic genetics 2008;29(3):128-32.
2008: Matteo M Guerrini; Cristina Sobacchi; Barbara Cassani; Mario Abinun; Sara S Kilic; Alessandra Pangrazio; Daniele Moratto; Evelina Mazzolari; Jill Clayton-Smith; Paul Orchard; Fraser Coxon; Miep H Helfrich; Julie Crockett; David Mellis; Ashok Vellodi; Ilhan Tezcan; Luigi D Notarangelo; Michael J Rogers; Paolo Vezzoni; Anna Villa; Annalisa Frattini
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
American journal of human genetics 2008;83(1):64-76.
2008: Mary C O'Driscoll; Jill Clayton-Smith
Bilateral camptodactyly and recurrent patellar dislocation: a new sign of 22q11 deletions or an independent dominant disorder?
Clinical dysmorphology 2008;17(3):157-9.
2008: Gregory J Fitzgibbon; Jill Clayton-Smith; Siddharth Banka; Susan J Hamilton; Margaret M Needham; Jonathan K Dore; Jake T Miller; Gareth D Pawson; Lorraine Gaunt
Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report.
Journal of medical case reports 2008;2():355.
2007: Usha Kini; Rebecca Lee; Alison Jones; Sarah Smith; Simon Ramsden; Alan Fryer; Jill Clayton-Smith
Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero.
European journal of medical genetics 2007;50(6):411-20.
2007: Joris R Vermeesch; Heike Fiegler; Nicole de Leeuw; Karoly Szuhai; Jacqueline Schoumans; Roberto Ciccone; Frank Speleman; Anita Rauch; Jill Clayton-Smith; Conny van Ravenswaaij-Arts; Damien Sanlaville; Philippos C Patsalis; Helen V Firth; koenraad devriendt; Orsetta Zuffardi
Guidelines for molecular karyotyping in constitutional genetic diagnosis.
European journal of human genetics : EJHG 2007;15(11):1105-14.
2007: Elena Boland; Jill Clayton-Smith; Victoria G Woo; Shane McKee; Forbes D C Manson; Livija Medne; Elaine Zackai; Eric A Swanson; David Fitzpatrick; Kathleen J Millen; Elliott H Sherr; William B Dobyns; Graeme C M Black
Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.
American journal of human genetics 2007;81(2):292-303.
2007: Christiane Zweier; Maarit Peippo; Juliane Hoyer; Sergio Sousa; Armand Bottani; Jill Clayton-Smith; William Reardon; Jorge Saraiva; Alexandra Cabral; Ina Gohring; koenraad devriendt; T J L de Ravel; Emilia K Bijlsma; Raoul Hennekam; Alfredo Orrico; Monika Cohen; Alexander Dreweke; André Reis; Peter Nurnberg; Anita Rauch
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
American journal of human genetics 2007;80(5):994-1001.
2007: Deirdre D Cilliers; Rahat Parveen; Peter Clayton; Stephen A Cairns; Sheila Clarke; Stephen M Shalet; Graeme C M Black; William G Newman; Jill Clayton-Smith
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 2007;50(3):216-23.
2007: Deirdre Cilliers; Yasemin Alanay; Koray Boduroglu; Eda Utine; Ergül Tunçbilek; Jill Clayton-Smith
Cerebro-facio-thoracic dysplasia: expanding the phenotype.
Clinical dysmorphology 2007;16(2):121-5.
2007: Audrey Smith; Sarju Mehta; Philip Bullen; Jill Clayton-Smith
Osteocraniostenosis: a further case report documenting the antenatal findings.
Clinical dysmorphology 2007;16(2):117-20.
2007: William G Newman; S Hamilton; J Ayres; N Sanghera; A Smith; L Gaunt; linda davies; Jill Clayton-Smith
Array comparative genomic hybridization for diagnosis of developmental delay: an exploratory cost-consequences analysis.
Clinical genetics 2007;71(3):254-9.
2006: L Boyes; A J Wallace; Malgorzata Krajewska-Walasek; Krystyna H Chrzanowska; Jill Clayton-Smith; Simon Ramsden
Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay.
European journal of medical genetics 2006;49(6):472-80.
2006: Charles A Williams; Arthur L Beaudet; Jill Clayton-Smith; Joan H Knoll; Martin Kyllerman; Laura A Laan; R Ellen Magenis; Anne Moncla; Albert A Schinzel; Jane A Summers; Joseph Wagstaff
Angelman syndrome 2005: updated consensus for diagnostic criteria.
American journal of medical genetics. Part A 2006;140(5):413-8.
2006: Usha Kini; Naghme Adab; J Vinten; Alan Fryer; Jill Clayton-Smith
Dysmorphic features: an important clue to the diagnosis and severity of fetal anticonvulsant syndromes.
Archives of disease in childhood. Fetal and neonatal edition 2006;91(2):F90-5.
2005: Peter Hammond; Tim J Hutton; Judith E Allanson; Bernard Buxton; Linda E Campbell; Jill Clayton-Smith; Dian Donnai; Annette Karmiloff-Smith; Kay Metcalfe; Kieran C Murphy; Michael Patton; Barbara Pober; Katrina Prescott; Peter J Scambler; Adam Shaw; Ann C M Smith; Angela F Stevens; I Karen Temple; Raoul Hennekam; May Tassabehji
Discriminating power of localized three-dimensional facial morphology.
American journal of human genetics 2005;77(6):999-1010.
2005: Stefan Meyer; William Fergusson; Anneke B Oostra; Annette L Medhurst; Quinten Waisfisz; Johan P de Winter; Fei Chen; Trevor F Carr; Jill Clayton-Smith; Tara Clancy; Mike Green; Lisa Barber; Osborn B Eden; Andrew M Will; Hans Joenje; G Malcolm Taylor
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 2005;42(4):404-15.
2005: Saba Sharif; Charles R M Hay; Jill Clayton-Smith
Aplasia cutis congenita and low molecular weight heparin.
BJOG : an international journal of obstetrics and gynaecology 2005;112(2):256-8.
2005: Karen L Ciprero; Jill Clayton-Smith; Dian Donnai; Robert A Zimmerman; Elaine H Zackai; Jeffrey E Ming
Symptomatic Chiari I malformation in Kabuki syndrome.
American journal of medical genetics. Part A 2005;132A(3):273-5.
2005: Livia Garavelli; K Leask; Claudio Zanacca; S Pedori; Giuseppe Albertini; Elvio Della Giustina; Gianfranco Croci; C Magnani; Giacomo Banchini; Jill Clayton-Smith; M Bocian; Helen V Firth; J A Gold; J Hurst
MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.
Genetic counseling (Geneva, Switzerland) 2005;16(2):117-28.
2004: S M Quinn; Graeme C M Black; Susmito Biswas; Jill Clayton-Smith; Christopher Lloyd
Autosomal dominant brachydactyly, coloboma and anterior segment dysgenesis.
Ophthalmic genetics 2004;25(4):277-83.
2004: Naghme Adab; Usha Kini; J Vinten; J Ayres; G Baker; Jill Clayton-Smith; H Coyle; Alan Fryer; J Gorry; J Gregg; George Mawer; Paola Nicolaides; L Pickering; L Tunnicliffe; David W Chadwick
The longer term outcome of children born to mothers with epilepsy.
Journal of neurology, neurosurgery, and psychiatry 2004;75(11):1575-83.
2004: Usha Kini; Jill Clayton-Smith
Acromegaloid facial appearance syndrome: a further case report.
Clinical dysmorphology 2004;13(4):251-3.
2004: Juha Kolehmainen; Robert Wilkinson; Anna-Elina Lehesjoki; Kate Chandler; Satu Kivitie-Kallio; Jill Clayton-Smith; Ann-Liz Träskelin; Laura Waris; Anne Juvonen; Jabbar Khan; Varda Gross-Tsur; Elias Traboulsi; Mette Warburg; Jean-Pierre Fryns; Reijo Norio; Graeme C M Black; Forbes D C Manson
Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.
American journal of human genetics 2004;75(1):122-7.
2004: David A Stevenson; Theresa M Anaya; Jill Clayton-Smith; Bryan D Hall; Margot I Van Allen; Roberto T Zori; Elaine H Zackai; Gary Frank; Carol L Clericuzio
Unexpected death and critical illness in Prader-Willi syndrome: report of ten individuals.
American journal of medical genetics. Part A 2004;124A(2):158-64.
2003: Jill Clayton-Smith
Genomic imprinting as a cause of disease.
BMJ (Clinical research ed.) 2003;327(7424):1121-2.
2003: Meredith Wilson; David Mowat; Florence Dastot-Le Moal; Valère Cacheux; Helena Kääriäinen; Danny Cass; Dian Donnai; Jill Clayton-Smith; Sharron Townshend; Cynthia Curry; Michael Gattas; Stephen Braddock; Bronwyn Kerr; Salim Aftimos; Harry Zehnwirth; Catherine Barrey; Michel Goossens
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.
American journal of medical genetics. Part A 2003;119A(3):257-65.
2003: Juha Kolehmainen; Graeme C M Black; Anne Juvonen; Kate Chandler; Jill Clayton-Smith; Ann-Liz Träskelin; Rahat Perveen; Satu Kivitie-Kallio; Reijo Norio; Mette Warburg; Jean-Pierre Fryns; Albert de La Chapelle; Anna-Elina Lehesjoki
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.
American journal of human genetics 2003;72(6):1359-69.
2003: Kate Chandler; A Kidd; L Al-Gazali; Juha Kolehmainen; Anna-Elina Lehesjoki; Graeme C M Black; Jill Clayton-Smith
Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.
Journal of medical genetics 2003;40(4):233-41.
2003: Kate Chandler; M Moffett; Jill Clayton-Smith; G A Baker
Neuropsychological assessment of a group of UK patients with Cohen syndrome.
Neuropediatrics 2003;34(1):7-13.
2003: André Mégarbané; Joseph Haddad; Stanislas LYONNET; Jill Clayton-Smith
Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: macrocephaly-cutis marmorata telangiectatica congenita syndrome or new disorder?
American journal of medical genetics. Part A 2003;116A(2):184-7.
2002: George Mawer; Jill Clayton-Smith; Helen Coyle; Usha Kini
Outcome of pregnancy in women attending an outpatient epilepsy clinic: adverse features associated with higher doses of sodium valproate.
Seizure : the journal of the British Epilepsy Association 2002;11(8):512-8.
2002: Kate Chandler; Susmito Biswas; Christopher Lloyd; N Parry; Jill Clayton-Smith; Graeme C M Black
The ophthalmic findings in Cohen syndrome.
The British journal of ophthalmology 2002;86(12):1395-8.
2002: Karen M Lower; Gillian Turner; Bronwyn A Kerr; Katherine D Mathews; Marie A Shaw; Agi K Gedeon; Susan Schelley; H Eugene Hoyme; Susan M White; Martin B Delatycki; Anne K Lampe; Jill Clayton-Smith; Helen Stewart; Conny M A van Ravenswaay; Bert B A de Vries; Barbara Cox; Markus Grompe; Shelley Ross; Paul Thomas; John C Mulley; Jozef Gécz
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.
Nature genetics 2002;32(4):661-5.
2002: David Monk; Louise Bentley; Megan P Hitchins; Rachael A Myler; Jill Clayton-Smith; Samira Ismail; Sue M Price; Michael A Preece; Philip Stanier; Gudrun E Moore
Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.
Human genetics 2002;111(4-5):376-87.
2002: Kate Chandler; Jill Clayton-Smith
Does a Jewish type of Cohen syndrome truly exist?
American journal of medical genetics 2002;111(4):453-4.
2001: H Stewart; P T Smith; L Gaunt; L Moore; P Tarpey; S Andrew; I Dady; R Rifkin; Jill Clayton-Smith
De novo deletion of chromosome 18q in a baby with harlequin ichthyosis.
American journal of medical genetics 2001;102(4):342-5.
2001: P Watson; G Black; Simon Ramsden; M Barrow; Maurice Super; Bronwyn Kerr; Jill Clayton-Smith
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein.
Journal of medical genetics 2001;38(4):224-8.
2000: AM Slavotinek; Xiao-Ning Chen; A Jackson; L Gaunt; A Campbell; Jill Clayton-Smith; Julie R Korenberg
Partial tetrasomy 21 in a male infant.
Journal of medical genetics 2000;37(10):E30.
2000: Jill Clayton-Smith; P Watson; Simon Ramsden; Graeme C M Black
Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males.
Lancet 2000;356(9232):830-2.
2000: Rahat Perveen; Christopher Lloyd; Jill Clayton-Smith; Amanda J Churchill; Veronica van Heyningen; Isabel M Hanson; D Taylor; Carole M E McKeown; Maurice Super; Bronwyn Kerr; R Winter; Graeme C M Black
Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.
Investigative ophthalmology & visual science 2000;41(9):2456-60.
2000: Dian Donnai; L Kerzin-Storrar; D Craufurd; G Evans; Jill Clayton-Smith; HM Kingston
Tensions in implementing the new genetics. Genetic counsellors could be based in genetic centres but be formally linked to general practice.
BMJ (Clinical research ed.) 2000;321(7255):241; author reply 242.
2000: F M Waters; Christopher Lloyd; Jill Clayton-Smith
Apple peel atresia in association with bilateral colobomatous malformation of the optic nerve heads, dysmorphic features, and learning disability - a new syndrome?
Ophthalmic genetics 2000;21(2):117-21.
1999: A Slavotinek; Jill Clayton-Smith
A girl with ectodermal dysplasia, choanal atresia and polysyndactyly.
Clinical dysmorphology 1999;8(4):287-9.
1999: Graeme C M Black; Rahat Perveen; Richard E Bonshek; M Cahill; Jill Clayton-Smith; Christopher Lloyd; david mcleod
Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.
Human molecular genetics 1999;8(11):2031-5.
1999: A Slavotinek; Jill Clayton-Smith; B Kerr
Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus.
Clinical dysmorphology 1999;8(3):223-5.
1999: AM Slavotinek; Jill Clayton-Smith
Brachydactyly type B: case report and further evidence for clinical heterogeneity.
Clinical dysmorphology 1999;8(3):165-71.
1999: AM Slavotinek; M Rosenberg; S Knight; L Gaunt; William Fergusson; C Killoran; Jill Clayton-Smith; HM Kingston; R H Campbell; J Flint; Dian Donnai; L Biesecker
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres.
Journal of medical genetics 1999;36(5):405-11.
1998: Graeme C M Black; Rahat Perveen; E Hatchwell; A Reck; Jill Clayton-Smith
Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).
Journal of medical genetics 1998;35(12):985-8.
1997: Jill Clayton-Smith; Bronwyn Kerr; H Brunner; L Tranebjaerg; A Magee; Raoul Hennekam; R F Mueller; Louise A Brueton; Maurice Super; J Steen-Johnsen; Dian Donnai
Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome.
Clinical dysmorphology 1997;6(4):291-302.
1997: AK Ryan; Judith A Goodship; David I Wilson; N Philip; A Levy; Heide Seidel; S Schuffenhauer; H Oechsler; B Belohradsky; Marguerite Prieur; A Aurias; F L Raymond; Jill Clayton-Smith; E Hatchwell; Carole M E McKeown; F A Beemer; B Dallapiccola; G Novelli; Jane A Hurst; Jaakko Ignatius; A J Green; Robin M Winter; Louise A Brueton; K Brøndum-Nielsen; Peter J Scambler
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
Journal of medical genetics 1997;34(10):798-804.
1997: A Slavotinek; Jill Clayton-Smith; Maurice Super
Familial patent ductus arteriosus: a further case of CHAR syndrome.
American journal of medical genetics 1997;71(2):229-32.
1997: Christopher Lloyd; PM Haigh; Jill Clayton-Smith; P Clayton; David A Price; AE Ridgway; Dian Donnai
Anterior segment dysgenesis in mosaic Turner syndrome.
The British journal of ophthalmology 1997;81(8):639-43.
1997: S Lindsay; M Ireland; O O'Brien; Jill Clayton-Smith; Jane A Hurst; J Mann; T Cole; J Sampson; S Slaney; David Schlessinger; John Burn; Giuseppe Pilia
Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.
Journal of medical genetics 1997;34(6):480-3.
1997: K J Lipscomb; Jill Clayton-Smith; R Harris
Evolving phenotype of Marfan's syndrome.
Archives of disease in childhood 1997;76(1):41-6.
1996: S Ramsden; L Gaunt; A Seres-Santamaria; Jill Clayton-Smith
A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation.
Acta geneticae medicae et gemellologiae 1996;45(1-2):255-61.
1995: Charles A Williams; H Angelman; Jill Clayton-Smith; Daniel J Driscoll; J E Hendrickson; J H Knoll; R Ellen Magenis; A Schinzel; J Wagstaff; E M Whidden
Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.
American journal of medical genetics 1995;56(2):237-8.
1995: Richard J Gibbons; Louise A Brueton; V J Buckle; J Burn; Jill Clayton-Smith; B C Davison; R J Gardner; TF Homfray; Lyndal Kearney; HM Kingston
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
American journal of medical genetics 1995;55(3):288-99.
1994: Jessica Louise Buxton; C T Chan; H Gilbert; Jill Clayton-Smith; John Burn; Marcus E Pembrey; Sue Malcolm
Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb.
Human molecular genetics 1994;3(8):1409-13.
1994: D G Evans; H C Rees; A Spreadborough; D J Campbell; G S Gau; E Pickering; S Hamilton; Jill Clayton-Smith
Radial ray defects, renal ectopia, duodenal atresia and hydrocephalus: the extended spectrum for Fanconi anaemia.
Clinical dysmorphology 1994;3(3):200-6.
1993: C T Chan; Jill Clayton-Smith; X J Cheng; Jessica Louise Buxton; T Webb; Marcus E Pembrey; Sue Malcolm
Molecular mechanisms in Angelman syndrome: a survey of 93 patients.
Journal of medical genetics 1993;30(11):895-902.
1993: Jill Clayton-Smith; D J Driscoll; M F Waters; T Webb; T Andrews; Sue Malcolm; Marcus E Pembrey; R D Nicholls
Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.
American journal of medical genetics 1993;47(5):683-6.
1993: Jill Clayton-Smith; T Webb; X J Cheng; Marcus E Pembrey; Sue Malcolm
Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.
Journal of medical genetics 1993;30(6):529-31.
1993: Jill Clayton-Smith
Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals.
American journal of medical genetics 1993;46(1):12-5.
1993: T Webb; Sue Malcolm; Marcus E Pembrey; Jill Clayton-Smith
Inheritance of parental chromosomes 15 in Angelman syndrome--implications for the family.
Genetic counseling (Geneva, Switzerland) 1993;4(1):1-6.
1992: T Webb; Jill Clayton-Smith; X J Cheng; J H Knoll; M Lalande; Marcus E Pembrey; Sue Malcolm
Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.
Journal of medical genetics 1992;29(12):921-4.
1992: Jill Clayton-Smith; T Webb; S A Robb; I Dijkstra; P Willems; S Lam; X J Cheng; Marcus E Pembrey; Sue Malcolm
Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome.
American journal of medical genetics 1992;44(2):256-60.
1992: Jill Clayton-Smith
Angelman's syndrome.
Archives of disease in childhood 1992;67(7):889-90.
1992: Jill Clayton-Smith; Marcus E Pembrey
Angelman syndrome.
Journal of medical genetics 1992;29(6):412-5.
1992: A M Norman; Andrew P Read; Jill Clayton-Smith; T Andrews; Dian Donnai
Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5).
American journal of medical genetics 1992;42(4):638-41.
1992: Jill Clayton-Smith; Andrew P Read; Dian Donnai
Monozygotic twinning and Wiedemann-Beckwith syndrome.
American journal of medical genetics 1992;42(4):633-7.
1991: Sue Malcolm; Jill Clayton-Smith; M Nichols; S Robb; T Webb; J A Armour; A J Jeffreys; Marcus E Pembrey
Uniparental paternal disomy in Angelman's syndrome.
Lancet 1991;337(8743):694-7.
1990: Jill Clayton-Smith; P A Farndon; C McKeown; D Donnai
Examination of fetuses after induced abortion for fetal abnormality.
BMJ (Clinical research ed.) 1990;300(6720):295-7.
1989: A J Ivinson; Andrew P Read; R Harris; Maurice Super; M Schwarz; Jill Clayton-Smith; R Elles
Testing for cystic fibrosis using allelic association.
Journal of medical genetics 1989;26(7):426-30.
1989: Jill Clayton-Smith; Dian Donnai
A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.
Journal of medical genetics 1989;26(5):339-42.
1988: Jill Clayton-Smith; Dian Donnai
A further patient with the lethal type of Larsen syndrome.
Journal of medical genetics 1988;25(7):499-500.