J. Clayton-Smith

发表

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

C. Baker, N. de Leeuw, M. Fichera, 2008, The New England journal of medicine.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Peter N. Robinson, M. Reijnders, J. Hehir-Kwa, 2019, Front. Genet..

Orientation Selectivity in the Visual Cortex of Cortical Columnar Organization and Reduced Early Alcohol Exposure Induces Persistent Alteration

T. Krahe, A. S. Ramoa, J. Clayton-Smith, 2015 .

Angelman syndrome 2005: Updated consensus for diagnostic criteria

A. Beaudet, J. Summers, J. Clayton-Smith, 2006, American journal of medical genetics. Part A.

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome

Colin A. Johnson, D. Horn, S. Mundlos, 2005, Nature Genetics.

Discriminating power of localized three-dimensional facial morphology.

A. Karmiloff-Smith, B. Buxton, P. Scambler, 2005, American journal of human genetics.

Syndromes of the Head and Neck

J. Clayton-Smith, 1993 .

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

A. Munnich, J. Clayton-Smith, S. Hanein, 2013, American journal of human genetics.

Delivering effective genetic services for patients and families affected by cleft lip and/or palate

J. Clayton-Smith, R. Macleod, N. Stock, 2019, European Journal of Human Genetics.

Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities

D. Baralle, J. Clayton-Smith, M. Raponi, 2012, Clinical genetics.

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1

Janet M Thornton, Roman A Laskowski, Caroline F Wright, 2017, Molecular genetics & genomic medicine.

University of Dundee Exome Sequencing in Patients With Antiepileptic Drug Exposure And Complex Phenotypes Deciphering Developmental Disorders ( DDD ) Study

D. Baralle, J. Clayton-Smith, S. Holder, 2019 .

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders

Tomas W. Fitzgerald, T. Fitzgerald, M. Hurles, 2014, Genome research.

Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio–facio–cutaneous syndrome

J. Clayton-Smith, Diana S. Johnson, D. Donnai, 2011, Clinical dysmorphology.

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Juliane Hoyer, Alexander Dreweke, Alfredo Orrico, 2007, American journal of human genetics.

Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome.

D. J. Driscoll, M. Pembrey, J. Clayton-Smith, 1993, American journal of medical genetics.

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

I. Scheffer, H. Mefford, G. Cioni, 2021, Brain : a journal of neurology.

Folate and Clefts of the Lip and Palate—A U.K.-Based Case-Control Study: Part I: Dietary and Supplemental Folate

J. Clayton-Smith, J. Little, D. Fitzpatrick, 2008, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Fetal antiepileptic drug exposure and cognitive outcomes at age 6 years (NEAD study): a prospective observational study

K. Meador, J. Clayton-Smith, G. Baker, 2013, The Lancet Neurology.

Prevalence of fetal alcohol spectrum disorder in Greater Manchester, UK: An active case ascertainment study

Jonathan Green, J. Clayton-Smith, C. Allely, 2021, Alcoholism, clinical and experimental research.

Prevalence of Fetal Alcohol Spectrum Disorder (FASD) in Greater Manchester, UK: an active case ascertainment study

Jonathan Green, J. Clayton-Smith, P. Cook, 2021, medRxiv.

Angelman syndrome: evolution of the phenotype in adolescents and adults.

J. Clayton-Smith, 2001 .

Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.

D. Schlessinger, J. Clayton-Smith, J. Hurst, 1997, Journal of Medical Genetics.

The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugs

Marta García-Fiñana, Jill Clayton-Smith, S. B. Lucas, 2013, Journal of Neurology, Neurosurgery & Psychiatry.

Sensitivity of the UK Clinical Practice Research Datalink to Detect Neurodevelopmental Effects of Medicine Exposure in Utero: Comparative Analysis of an Antiepileptic Drug-Exposed Cohort

J. Clayton-Smith, G. Baker, R. Charlton, 2017, Drug Safety.

Pregnancy with epilepsy: Obstetric and neonatal outcome of a controlled study

S. B. Lucas, J. Clayton-Smith, G. Baker, 2010, Seizure.

Outcome of pregnancy in women attending an outpatient epilepsy clinic: adverse features associated with higher doses of sodium valproate

J. Clayton-Smith, U. Kini, G. Mawer, 2002, Seizure.

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome

K E Chandler, J. Clayton-Smith, L. Al-Gazali, 2003, Journal of medical genetics.

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.

J. Clayton-Smith, A. de la Chapelle, M. Warburg, 2003, American journal of human genetics.

Neuropsychological assessment of a group of UK patients with Cohen syndrome.

J. Clayton-Smith, G. Baker, K. Chandler, 2003, Neuropediatrics.

Cerebral screening in patients with hereditary haemorrhagic telangiectasia

J. Clayton-Smith, T. Briggs, A. Jackson, 2014, Internal medicine journal.

Association of Steroid 5&agr;-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy

Rachel L. Taylor, Katherine R. Smith, J. Clayton-Smith, 2017, JAMA ophthalmology.

Delineation of the early-onset retinal dystrophy associated with 1 steroid 5 α-reductase type 3-congenital disorder of glycosylation 2 ( SRD 5 A 3-CDG ) 3

Rachel L. Taylor, Katherine R. Smith, J. Clayton-Smith, 2017 .

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations

J. Clayton-Smith, W. Newman, A. Woolf, 2020, European journal of medical genetics.

Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia

A. Pagnamenta, N. Drouot, I. Sumara, 2016, Nature Genetics.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

G. Carvill, I. Scheffer, H. Mefford, 2019, American journal of human genetics.

The contribution of non-canonical splicing mutations to severe dominant developmental disorders

Patrick J. Short, M. Hurles, J. Barrett, 2018 .

Pathogenicity and selective constraint on variation near splice sites

Patrick J. Short, M. Hurles, J. Barrett, 2018, bioRxiv.

Dysmorphology services: a snapshot of current practices and a vision for the future

J. Clayton-Smith, S. Douzgou, S. Kitsiou-Tzeli, 2016, Clinical genetics.

Brittle cornea syndrome: recognition, molecular diagnosis and management

J. Clayton-Smith, S. Smithson, F. Munier, 2013, Orphanet Journal of Rare Diseases.

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

J. Clayton-Smith, A. Nordgren, B. Dallapiccola, 2020, Orphanet Journal of Rare Diseases.

Evolving phenotype of Marfan’s syndrome

J. Clayton-Smith, Karen J. Lipscomb, Rodney Harris, 1997, Archives of disease in childhood.

CARDIOVASCULAR MALFORMATIONS IN TURNER'S SYNDROME

J. Clayton-Smith, A. Nadas, J. Crigler, 1964, Pediatrics.

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.

Andrew Menzies, Keiran Raine, Sarah Edkins, 2007, American journal of human genetics.

Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A

J. Clayton-Smith, D. Scotcher, J. Urquhart, 2017, Journal of child neurology.

A cross‐linker‐sensitive myeloid leukemia cell line from a 2‐year‐old boy with severe Fanconi anemia and biallelic FANCD1/BRCA2 mutations

G. M. Taylor, J. Clayton-Smith, Q. Waisfisz, 2005, Genes, chromosomes & cancer.

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

A. Need, M. Kayikci, D. Baralle, 2020, Scientific Reports.

Further delineation of phenotypic spectrum of SCN2A‐related disorder

D. Baralle, J. Clayton-Smith, C. Ruivenkamp, 2021, American journal of medical genetics. Part A.

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Folate and Clefts of the Lip and Palate—A U.K.-Based Case-Control Study: Part II: Biochemical and Genetic Analysis

J. Clayton-Smith, J. Little, D. Fitzpatrick, 2008, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Meier-Gorlin syndrome genotype-phenotype studies

J. Al-Aama, J. Opitz, W. Reardon, 2016 .

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

J. Al-Aama, J. Opitz, W. Reardon, 2012, European Journal of Human Genetics.

Ocular coloboma and foetal valproate syndrome: four further cases and a hypothesis for aetiology.

J. Clayton-Smith, A. Fryer, V. Clowes, 2014, Clinical dysmorphology.

Molecular mechanisms in Angelman syndrome: a survey of 93 patients.

M. Pembrey, J. Clayton-Smith, S. Malcolm, 1993, Journal of medical genetics.

Imprinting Disorders of Early Childhood

J. Clayton-Smith, I. Temple, D. Mackay, 2012 .

Recommendations for whole genome sequencing in diagnostics for rare diseases

N. de Leeuw, J. Belmont, J. Clayton-Smith, 2022, European Journal of Human Genetics.

Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

J. Clayton-Smith, J. Beygo, S. Ramsden, 2019, European Journal of Human Genetics.

Correspondenceguidelines for the molecular analysis of Prader-Willi and Angelman syndromes

J. Clayton-Smith, S. Ramsden, K. Buiting, 2010 .

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

J. Clayton-Smith, S. Ramsden, K. Buiting, 2010, BMC Medical Genetics.

genetic aspects Angelman syndrome: a review of the clinical and

J. Clayton-Smith, L. Laan, 2005 .

Angelman syndrome associated with a maternal 15q11-13 deletion of less than 200 kb.

M. Pembrey, J. Clayton-Smith, J. Burn, 1994, Human molecular genetics.

Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

D. Sillence, A. Munnich, J. Clayton-Smith, 2012, Human mutation.

A recurrent synonymous KAT6B mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing

J. Clayton-Smith, S. Price, C. Kubisch, 2015, American journal of medical genetics. Part A.

Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5).

J. Clayton-Smith, A. Read, D. Donnai, 1992, American journal of medical genetics.

Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals.

J. Clayton-Smith, Jill Clayton-Smith, J. Clayton-Smith, 1993, American journal of medical genetics.

Baricitinib in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial and updated meta-analysis

K. C. Morris, Mohammed Salah Ibrahim, K. Y. Wong, 2022, medRxiv.

Azithromycin in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial

Patricia A. H. Williams, Steve B Jones, K. Y. Wong, 2021, The Lancet.

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals

J. Clayton-Smith, I. Temple, A. Wilkie, 2001, Human mutation.

Monozygotic twinning and Wiedemann-Beckwith syndrome.

J. Clayton-Smith, A. Read, D. Donnai, 1992, American journal of medical genetics.

Clinical utility of genetic testing in 201 preschool children with inherited eye disorders

Rachel L. Taylor, J. Clayton-Smith, G. Hall, 2019, Genetics in Medicine.

Relationship of child IQ to parental IQ and education in children with fetal antiepileptic drug exposure

K. Meador, J. Clayton-Smith, G. Baker, 2011, Epilepsy & Behavior.

Another cause of vaccine encephalopathy: a case of Angelman syndrome.

R. Hennekam, J. Clayton-Smith, P. Hammond, 2012, European journal of medical genetics.

Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay.

J. Clayton-Smith, L. Boyes, K. Chrzanowska, 2006, European journal of medical genetics.

Angelman syndrome: evolution of the phenotype in adolescents and adults

J. Clayton-Smith, 2001 .

A case of Angelman syndrome arising as a result of a de novo Robertsonian translocation.

L. Gaunt, J. Clayton-Smith, S. Ramsden, 1996, Acta geneticae medicae et gemellologiae.

Angelman syndrome with a chromosomal inversion 15 inv(p11q13) accompanied by a deletion in 15q11q13.

M. Pembrey, J. Clayton-Smith, S. Malcolm, 1992, Journal of medical genetics.

Further evidence for dominant inheritance at the chromosome 15q11-13 locus in familial Angelman syndrome.

M. Pembrey, J. Clayton-Smith, S. Malcolm, 1992, American journal of medical genetics.

Angelman's syndrome.

J. Clayton-Smith, 1992, Archives of disease in childhood.

Angelman Syndrome in the Adolescent and Young Adult

J. Clayton-Smith, 1992 .

CASE Angelman syndrome with a chromosomal inversion 15 inv(pl 1 q 1 3) accompanied by a deletion in 15qllql3

M. Pembrey, J. Clayton-Smith, S. Malcolm, 2022 .

Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

J. Clayton-Smith, M. Tassabehji, A. Beleza-Meireles, 2014, Journal of Medical Genetics.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

A. Green, E. Bongers, R. Hennekam, 2015, American journal of medical genetics. Part A.

Clinical and hematologic aspects of the X-linked α-thalassemia/mental retardation syndrome (ATR-X)

J. Clayton-Smith, L. Kearney, A. Wilkie, 1995 .

Array comparative genomic hybridization for diagnosis of developmental delay – an exploratory cost‐consequences analysis

L. Gaunt, J. Clayton-Smith, W. Newman, 2007, Clinical genetics.

Exploring the complex relationship between adolescent sexual offending and sex chromosome abnormality

J. Clayton-Smith, L. Harrison, L. Harrison, 2001, Psychiatric genetics.

Genotype–phenotype specificity in Menke–Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP

J. Clayton-Smith, S. Banka, Sarah E. Sheppard, 2019, American journal of medical genetics. Part A.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Golder N Wilson, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Identification of LAMA1 mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome

J. Clayton-Smith, U. Kini, E. Boltshauser, 2021, Brain communications.

Dysmorphology at a distance: results of a web-based diagnostic service

J. Clayton-Smith, S. Douzgou, R. Day, 2014, European Journal of Human Genetics.

Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach

I. C. Lloyd, J. Clayton-Smith, G. Hall, 2016, Eye.

Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings

E. Zackai, J. Clayton-Smith, R. Scott, 2016, American journal of medical genetics. Part A.

Edinburgh Research Explorer Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum

J. Clayton-Smith, K. Millen, L. Medne, 2018 .

Macrocephaly-Cutis Marmorata Telangiectatica Congenita (Macrocephaly-Capillary Malformation)

J. Clayton-Smith, P. Lapunzina, 2008 .

J. Clayton-Smith, T. Briggs, D. Study, 2017, European journal of medical genetics.

Personalized diagnosis and management of congenital cataract by next-generation sequencing.

I. C. Lloyd, J. Clayton-Smith, S. Bhaskar, 2014, Ophthalmology.

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

P. Kaplan, S. Mundlos, J. Clayton-Smith, 2008, Nature Genetics.

Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature

J. Clayton-Smith, B. Kamien, T. Dudding-Byth, 2017, American journal of medical genetics. Part A.

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy

J. Clayton-Smith, S. Ellard, K. Stals, 2018, European Journal of Human Genetics.

The adaptive functioning profile of Pitt-Hopkins syndrome.

J. Clayton-Smith, C. Oliver, A. Welham, 2021, European journal of medical genetics.

Observation of Cleft Palate in an Individual with SOX11 Mutation

J. Clayton-Smith, D. Study, Umair Khan, 2018, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom

J. Clayton-Smith, C. Patch, M. Macek, 2022, Journal of Community Genetics.

Unexpected death and critical illness in Prader–Willi syndrome: Report of ten individuals

E. Zackai, J. Clayton-Smith, D. Stevenson, 2004, American journal of medical genetics. Part A.

Familial patent ductus arteriosus: a further case of CHAR syndrome.

J. Clayton-Smith, A. Slavotinek, M. Super, 1997, American journal of medical genetics.

Differential effects of antiepileptic drugs on neonatal outcomes

Gregory P. Lee, Mike R. Schoenberg, P. G. Wells, 2012, Epilepsy & Behavior.

Mowat-Wilson syndrome: growth charts

J. Clayton-Smith, S. Bernasconi, R. Møller, 2020, Orphanet Journal of Rare Diseases.

SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism

W. Reardon, J. Clayton-Smith, R. Winter, 2004, Journal of Medical Genetics.

4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.

J. Clayton-Smith, G. Black, J. Urquhart, 2009, European journal of medical genetics.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American Journal of Medical Genetics. Part A.

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

A. V. Vulto-van Silfhout, R. Pfundt, B. D. de Vries, 2019, Genetics in Medicine.

FETAL EFFECTS OF SELECTIVE SEROTONIN REUPTAKE INHIBITOR TREATMENT DURING PREGNANCY: IMMEDIATE AND LONGER TERM CHILD OUTCOMES

J. Clayton-Smith, A. Wood, R. Bromley, 2012 .

Fetal pads as a clue to the diagnosis of Pitt–Hopkins syndrome

J. Clayton-Smith, V. Siu, Charles A. Williams, 2011, American journal of medical genetics. Part A.

Syndromic conditions and the eye

J. Clayton-Smith, 2022, Clinical Ophthalmic Genetics and Genomics.

Symptomatic Chiari I malformation in Kabuki syndrome

E. Zackai, J. Clayton-Smith, R. Zimmerman, 2005, American journal of medical genetics. Part A.

Hypoglycaemia represents a clinically significant manifestation of PIK3CA‐ and CCND2‐associated segmental overgrowth

J. Clayton-Smith, S. Douzgou, K. Metcalfe, 2018, Clinical genetics.

Detection of a mosaic PIK3CA mutation in dental DNA from a child with megalencephaly capillary malformation syndrome

J. Clayton-Smith, J. McDermott, H. Byers, 2016, Clinical dysmorphology.

Macrocephaly with cutis marmorata, haemangioma and syndactyly--a distinctive overgrowth syndrome.

R. Hennekam, J. Clayton-Smith, H. Brunner, 1997, Clinical dysmorphology.

The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision

A. Need, J. Clayton-Smith, I. MacDonald, 2022, Nature Communications.

Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome

J. Clayton-Smith, W. Newman, S. Bhaskar, 2015, Journal of Human Genetics.

Edinburgh Research Explorer Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2018 .

Diagnostic Dysmorphology

J. Clayton-Smith, 1992 .

VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype

J. Clayton-Smith, E. McCann, S. Ramsden, 2010, British Journal of Ophthalmology.

Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.

J. Clayton-Smith, D. Taylor, R. Winter, 2000, Investigative ophthalmology & visual science.

The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.

J. Clayton-Smith, D. Higgs, R. Gibbons, 1991, Journal of medical genetics.

A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25-q26.

J. Clayton-Smith, W. Newman, P. Clayton, 2007, European journal of medical genetics.

Tocilizumab in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial

Steve B Jones, K. Y. Wong, Chamil H. Hettiarachchi, 2021, Lancet.

A note on Pierre Marie (1853–1940)

J. Clayton-Smith, G. Baker, D. Chadwick, 2004, Journal of Neurology, Neurosurgery & Psychiatry.

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

T. de Ravel, J. Clayton-Smith, B. Thienpont, 2009, Human mutation.

Whole-genome sequencing of patients with rare diseases in a national health system

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Ronald Cohn, Maria Kousi, Nicholas Katsanis, 2017, American journal of human genetics.

Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.

J. Clayton-Smith, M. Tassabehji, W. Newman, 2015, European journal of medical genetics.

Spontaneous aortic rupture in a 22-year-old.

J. Clayton-Smith, M. Memon, M. A. Memon, 1996, Postgraduate medical journal.

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

Georgina Hall, Christopher Campbell, Rachel L. Taylor, 2017, Ophthalmology.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

J. Clayton-Smith, B. Lorenz, I. Temple, 2016, PloS one.

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A. Green, P. Scambler, E. Hatchwell, 1997, Journal of medical genetics.

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

J. Clayton-Smith, L. Biesecker, Meredith Wilson, 2011, American journal of human genetics.

Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.

J. Clayton-Smith, Z. Hyder, V. Beale, 2017, Clinical dysmorphology.

Syddansk Universitet Genetic Analysis of ' PAX 6-Negative ' Individuals with Aniridia or Gillespie Syndrome

Stephen, Anthony, I.., 2016 .

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

David Mellis, Evelina Mazzolari, Paolo Vezzoni, 2008, American journal of human genetics.

Anterior segment dysgenesis in mosaic Turner syndrome

I. C. Lloyd, J. Clayton-Smith, D. Donnai, 1997, The British journal of ophthalmology.

Partial tetrasomy 21 in a male infant

X. Chen, J. Korenberg, L. Gaunt, 2000, Journal of medical genetics.

Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal.

James N. Hughes, M. Shaw, J. Gécz, 2015, The Journal of clinical endocrinology and metabolism.

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

K. Devriendt, J. Clayton-Smith, S. Bhaskar, 2017, American journal of human genetics.

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.

Elias I Traboulsi, Jill Clayton-Smith, Jean-Pierre Fryns, 2004, American journal of human genetics.

IQ at 6 years after in utero exposure to antiepileptic drugs

K. Meador, M. García-Fiñana, J. Clayton-Smith, 2015, Neurology.

Cognitive function at 3 years of age after fetal exposure to antiepileptic drugs.

K. Meador, J. Clayton-Smith, G. Baker, 2009, The New England journal of medicine.

Fetal antiepileptic drug exposure and learning and memory functioning at 6 years of age: The NEAD prospective observational study

K. Meador, J. Clayton-Smith, G. Baker, 2019, Epilepsy & Behavior.

Dysmorphic features: an important clue to the diagnosis and severity of fetal anticonvulsant syndromes

J. Clayton-Smith, U. Kini, A. Fryer, 2005, Archives of Disease in Childhood - Fetal and Neonatal Edition.

Fetal antiepileptic drug exposure: Adaptive and emotional/behavioral functioning at age 6years

K. Meador, J. Clayton-Smith, G. Baker, 2011, Epilepsy & Behavior.

Fetal antiepileptic drug exposure: Motor, adaptive, and emotional/behavioral functioning at age 3years

K. Meador, J. Clayton-Smith, G. Baker, 2011, Epilepsy & Behavior.

Breastfeeding in children of women taking antiepileptic drugs: cognitive outcomes at age 6 years.

K. Meador, J. Clayton-Smith, G. Baker, 2014, JAMA pediatrics.

Effects of fetal antiepileptic drug exposure

Gregory P. Lee, Mike R. Schoenberg, G. Holmes, 2012, Neurology.

Foetal antiepileptic drug exposure and verbal versus non-verbal abilities at three years of age.

K. Meador, J. Clayton-Smith, G. Baker, 2011, Brain : a journal of neurology.

Fetal valproate syndrome.

J. Clayton-Smith, D. Donnai, 1995, Journal of medical genetics.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.

Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

J. Rosenfeld, D. Merico, A. C. Lionel, 2013 .

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

J. Clayton-Smith, L. Kearney, J. Burn, 1995, American journal of medical genetics.

Cerebro-facio-thoracic dysplasia: expanding the phenotype.

J. Clayton-Smith, E. Utine, Y. Alanay, 2007, Clinical dysmorphology.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

Structural analysis of pathogenic mutations in the DYRK1A gene in patients with developmental disorders

J. Thornton, R. Laskowski, Alison M. Male, 2017, Human molecular genetics.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability

J. Clayton-Smith, P. Blackburn, F. Raymond, 2019, American journal of medical genetics. Part A.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Mark T. Handley, M. Hurles, D. Grozeva, 2017, Genetics in Medicine.

Examination of fetuses after induced abortion for fetal abnormality.

J. Clayton-Smith, C. Mckeown, D. Donnai, 1990, BMJ.

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

N. Rahman, D. Gisselsson, J. Clayton-Smith, 2011, Nature Genetics.

Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus.

J. Clayton-Smith, B. Kerr, A. Slavotinek, 1999, Clinical dysmorphology.

Aarskog–Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene

K. Devriendt, J. Clayton-Smith, L. Faivre, 2010, American journal of medical genetics. Part A.

Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome.

M. Pembrey, J. Clayton-Smith, S. Malcolm, 1993, Journal of medical genetics.

Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

A. V. Vulto-van Silfhout, A. Hoischen, D. Horn, 2013, Human mutation.

Uniparental paternal disomy in Angelman's syndrome

M. Pembrey, A. Jeffreys, J. Clayton-Smith, 1991, The Lancet.

Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region.

J. Clayton-Smith, P. Stanier, D. Monk, 2002, Human Genetics.

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

J. Clayton-Smith, M. Tassabehji, L. Biesecker, 2011, American journal of human genetics.

Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres

J. Flint, L. Gaunt, J. Clayton-Smith, 1999, Journal of medical genetics.

Identification of genomic loci contributing to agenesis of the corpus callosum

J. Clayton-Smith, W. Dobyns, E. Sherr, 2010, American journal of medical genetics. Part A.

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families

J. Clayton-Smith, S. Bhaskar, S. Nampoothiri, 2016, American journal of medical genetics. Part A.

Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes

D. Baralle, J. Clayton-Smith, S. Holder, 2019, Archives of Disease in Childhood.

Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

R. Hennekam, J. Clayton-Smith, C. Saunders, 2019, Clinical genetics.

CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing

J. Clayton-Smith, D. Evans, G. Hall, 2017, Journal of Medical Genetics.

The value of microarray-based comparative genomic hybridisation (aCGH) testing in the paediatric clinic

J. Clayton-Smith, T. Briggs, P. Arkwright, 2015, Archives of Disease in Childhood.

Diagnosing fetal alcohol syndrome: new insights from newer genetic technologies

J. Clayton-Smith, Y. Crow, B. Kerr, 2012, Archives of Disease in Childhood.

Guidelines for molecular karyotyping in constitutional genetic diagnosis

H. Fiegler, K. Devriendt, J. Clayton-Smith, 2007, European Journal of Human Genetics.

Large, rare chromosomal deletions associated with severe early-onset obesity

M. Hurles, S. O’Rahilly, J. Clayton-Smith, 2010, Nature.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

J. Rosenfeld, A. V. Vulto-van Silfhout, B. D. de Vries, 2019, Biological Psychiatry.

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

J. Shendure, H. Mefford, E. Zackai, 2011, American journal of medical genetics. Part A.

A further patient with the lethal type of Larsen syndrome.

J. Clayton-Smith, D. Donnai, 1988, Journal of medical genetics.

The ARID1B phenotype: What we have learned so far

J. Clayton-Smith, G. Santen, 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

R. Pfundt, B. D. de Vries, M. Bamshad, 2021, medRxiv.

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements

Sofia Douzgou, Jill Clayton-Smith, W. Reardon, 2017, Journal of Pediatric Genetics.

Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome

M. Shaw, J. Gécz, J. Clayton-Smith, 2002, Nature Genetics.

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Angelman syndrome: a review of the clinical and genetic aspects

J. Clayton-Smith, L. Laan, J Clayton-Smith, 2003, Journal of medical genetics.

Angelman syndrome: Consensus for diagnostic criteria

Daniel J. Driscoll, Jill Clayton-Smith, D. J. Driscoll, 1995 .

Assisted reproductive therapies and imprinting disorders--a preliminary British survey.

W. Reardon, J. Clayton-Smith, S. Bowdin, 2006, Human reproduction.

A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus

R. Siebert, J. Clayton-Smith, P. Njølstad, 2006, Human Genetics.

Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus

J. Clayton-Smith, N. S. Thomas, H. White, 2006, Human Genetics.

Familial 3q29 microdeletion syndrome providing further evidence of involvement of the 3q29 region in bipolar disorder

J. Clayton-Smith, L. Willatt, C. Dunn, 2010, Clinical dysmorphology.

Effects of breastfeeding in children of women taking antiepileptic drugs

K. Meador, J. Clayton-Smith, G. Baker, 2010, Neurology.

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

M. Waldenberger, T. Wieland, T. Meitinger, 2014, American journal of human genetics.

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

I. Scheffer, A. Pagnamenta, F. Michel, 2013, Brain : a journal of neurology.

Periventricular heterotopia in 6 q terminal deletion syndrome : role of the C 6 orf 70 gene

I. Scheffer, A. Pagnamenta, F. Michel, 2013 .

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.

P. Scambler, R. Hennekam, J. Clayton-Smith, 2010, American journal of human genetics.

Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B

Dian Donnai, Cynthia Curry, Helena Kääriäinen, 2003, American journal of medical genetics. Part A.

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

M. Reijnders, W. Chung, A. Munnich, 2020, Genetics in Medicine.

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

Patrick Callier, Laurence Faivre, Christel Thauvin-Robinet, 2012, European Journal of Human Genetics.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

M. B. Pereira, A. Need, D. Nickerson, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Trisomy 18 mosaicism: report of two cases

J. Clayton-Smith, S. Banka, K. Metcalfe, 2013, World Journal of Pediatrics.

Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway.

J. Clayton-Smith, W. Reik, W. Bickmore, 1996, Human molecular genetics.

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

D. Horn, J. Clayton-Smith, Jenny C. Taylor, 2016, American journal of human genetics.

Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.

D. Schlessinger, J. Clayton-Smith, J. Hurst, 1997, Journal of medical genetics.

Tall stature and duplication of the insulin-like growth factor I receptor gene.

J. Clayton-Smith, J. Wit, M. Breuning, 2007, European journal of medical genetics.

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features

J. Clayton-Smith, P. Jouk, J. Thevenon, 2016, Genetics in Medicine.

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Julian R. E. Davis, T. Walsh, M. King, 2013, American journal of human genetics.

Intellectual functioning in clinically confirmed fetal valproate syndrome.

J. Clayton-Smith, G. Baker, A. Wood, 2019, Neurotoxicology and teratology.

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.

J. Clayton-Smith, A. Marson, R. Bromley, 2016, The Cochrane database of systematic reviews.

Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes

J. Clayton-Smith, J. Moss, C. Oliver, 2019, Journal of Neurodevelopmental Disorders.

22q11 deletion: a cause of asymmetric crying facies.

J. Clayton-Smith, H. Stewart, 1996, Archives of disease in childhood.

De novo deletion of chromosome 18q in a baby with harlequin ichthyosis.

P. Tarpey, L. Gaunt, J. Clayton-Smith, 2001, American journal of medical genetics.

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals

J. Clayton-Smith, B. Gener, D. Goudie, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Timing Of Primary Surgery for cleft palate (TOPS): protocol for a randomised trial of palate surgery at 6 months versus 12 months of age

J. Clayton-Smith, C. Gamble, P. Williamson, 2019, BMJ Open.

Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.

Silke Rinkwitz, I. C. Lloyd, Marija Mihelec, 2015, Human molecular genetics.

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

J. Clayton-Smith, W. Newman, S. Bhaskar, 2021, Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery.

Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

J. Clayton-Smith, W. Newman, R. O’Keefe, 2019, bioRxiv.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Sahar Mansour, Dierk Niessing, James J Dowling, 2017, Journal of Medical Genetics.

Collaborative Crowdsourcing for the Diagnosis of Rare Genetic Syndromes: The DYSCERNE Experience

J. Clayton-Smith, G. Patrinos, S. Douzgou, 2015, Public Health Genomics.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

J. Clayton-Smith, W. Newman, S. Bhaskar, 2021, Journal of Medical Genetics.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

J. Clayton-Smith, J. Goodship, H. Stewart, 2008, American journal of human genetics.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

L. Vissers, A. Hoischen, J. Clayton-Smith, 2021, European Journal of Human Genetics.

Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

Rachel L. Taylor, Mark T. Handley, J. Clayton-Smith, 2017, Investigative ophthalmology & visual science.

Explorer Novel PEX 11 B Mutations Extend the Peroxisome Biogenesis Disorder 14 B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature

Rachel L. Taylor, Mark T. Handley, J. Clayton-Smith, 2017 .

Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients

J. Clayton-Smith, V. Ricotti, S. McKee, 2008, Journal of Medical Genetics.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.

T. Strom, J. Clayton-Smith, A. Ekici, 2018, American journal of human genetics.

Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract.

I. C. Lloyd, J. Clayton-Smith, S. Williams, 2016, Ophthalmology.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Clinical and genetic variability in children with partial albinism

Katherine R. Smith, J. Clayton-Smith, G. Hall, 2019, Scientific Reports.

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.

J. Clayton-Smith, J. Hurst, L. Garavelli, 2005, Genetic counseling.

Apple peel atresia in association with bilateral colobomatous malformation of the optic nerve heads, dysmorphic features, and learning disability – a new syndrome?

J. Clayton-Smith, I. C. Lloyd, F. Waters, 2000, Ophthalmic genetics.

Rutherfurd syndrome revisited: intellectual disability is not a feature.

J. Clayton-Smith, J. Higgs, 2015, Clinical dysmorphology.

Five patients with novel overlapping interstitial deletions in 8q22.2q22.3

K. Buysse, J. Clayton-Smith, G. Mortier, 2011, American journal of medical genetics. Part A.

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.

J. Raes, Y. Peer, Y. van de Peer, 2005, American journal of human genetics.

Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.

J. Clayton-Smith, S. Rust, J. Ashworth, 2018, JIMD reports.

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

J. Clayton-Smith, D. Harris, J. Rivière, 2020, Journal of Medical Genetics.

Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

E. Zackai, J. Clayton-Smith, K. Millen, 2007, American journal of human genetics.

Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel–Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study

J. Clayton-Smith, R. Loffroy, C. Chiaverini, 2021, Genetics in Medicine.

A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement

J. Clayton-Smith, L. Biesecker, J. Graham, 2021, Clinical genetics.

The ophthalmic findings in Cohen syndrome

I. C. Lloyd, K E Chandler, J. Clayton-Smith, 2002, The British journal of ophthalmology.

Does a Jewish type of Cohen syndrome truly exist?

J. Clayton-Smith, K. Chandler, 2002, American journal of medical genetics.

Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.

J. Clayton-Smith, S. Douzgou, A. Roberts, 2020, European journal of medical genetics.

Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability

T. Strom, K. Devriendt, J. Clayton-Smith, 2018, European Journal of Human Genetics.

Perrault syndrome: further evidence for genetic heterogeneity

Julian R. E. Davis, A. Green, W. Reardon, 2012, Journal of Neurology.

Whole-genome sequencing of patients with rare diseases in a national health system

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Clinical utility gene card for: Aarskog–Scott Syndrome (faciogenital dysplasia) – update 2015

J. Clayton-Smith, J. Fryns, A. Orrico, 2014, European Journal of Human Genetics.

Jeune syndrome and cystinuria.

J. Clayton-Smith, 1991, American journal of medical genetics.

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

J. Clayton-Smith, A. Toutain, S. Mansour, 2009, European Journal of Human Genetics.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Patricia H. Wheeler, A. V. Vulto-van Silfhout, R. Pfundt, 2018, Genetics in Medicine.

Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families

J. Clayton-Smith, K. Chandler, R. Perveen, 2020, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families.

J. Clayton-Smith, K. Chandler, J. Urquhart, 2017, European journal of medical genetics.

Child with overgrowth, pigmentary streaks, polydactyly, and intestinal lymphangiectasia: Macrocephaly–cutis marmorata telangiectatica congenita syndrome or new disorder?

J. Clayton-Smith, A. Mégarbané, S. Lyonnet, 2003, American journal of medical genetics. Part A.

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.

M. Fichera, C. Romano, J. Clayton-Smith, 2009, American journal of human genetics.

Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

J. Clayton-Smith, S. Ramsden, G. Black, 2000, The Lancet.

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.

D. J. Driscoll, J. Clayton-Smith, C. Williams, 1995, American journal of medical genetics.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

R. Pfundt, D. Smedley, S. Robertson, 2021, American Journal of Human Genetics.

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

J. Al-Aama, J. Opitz, W. Reardon, 2012, American journal of medical genetics. Part A.

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

R. Pfundt, J. Clayton-Smith, B. Gener, 2016, Clinical genetics.

Angelman syndrome.

M. Pembrey, J. Clayton-Smith, 1992, Journal of Pediatric Neurology.

Angelman syndrome phenotype associated with mutations inMECP2, a gene encoding a methyl CpG binding protein

J. Clayton-Smith, B. Kerr, S. Ramsden, 2001, Journal of medical genetics.

Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM).

E. Hatchwell, J. Clayton-Smith, R. Perveen, 1998, Journal of medical genetics.

Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability

J. Clayton-Smith, A. Wood, R. Bromley, 2019, Orphanet Journal of Rare Diseases.

AUTISM SPECTRUM DISORDERS FOLLOWING IN UTERO EXPOSURE TO ANTIEPILEPTIC DRUGS

J. Clayton-Smith, G. Baker, R. Bromley, 2008, Neurology.

Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum

J. Clayton-Smith, A. González-del Angel, J. O’Sullivan, 2022, Clinical dysmorphology.

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

J. Clayton-Smith, K. Lachlan, J. Morton, 2019, Clinical genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Coats' disease of the retina (unilateral retinal telangiectasis) caused by somatic mutation in the NDP gene: a role for norrin in retinal angiogenesis.

J. Clayton-Smith, M. Cahill, D. McLeod, 1999, Human molecular genetics.

Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

T. de Ravel, R. Hennekam, J. Clayton-Smith, 2008, Human mutation.

On the prevalence of Angelman syndrome

J. Clayton-Smith, 1995 .

Bilateral camptodactyly and recurrent patellar dislocation: a new sign of 22q11 deletions or an independent dominant disorder?

J. Clayton-Smith, M. O'Driscoll, 2008, Clinical dysmorphology.

Fetal valproate syndrome.

J. Clayton-Smith, D. Donnai, 1995, Journal of medical genetics.

In utero exposure to valproate increases the risk of isolated cleft palate

J. Clayton-Smith, R. Bromley, B. Irwin, 2015, Archives of Disease in Childhood: Fetal and Neonatal Edition.

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.

Dian Donnai, Gabriele Gillessen-Kaesbach, Peter Nürnberg, 2014, American journal of human genetics.

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.

A clinical and genetic study of the Say/Barber/Biesecker/Young‐Simpson type of Ohdo syndrome

J. Clayton-Smith, M. Tassabehji, S. Mansour, 2008, Clinical genetics.

Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome

J. Clayton-Smith, S. Douzgou, H. Schlecht, 2017, American journal of medical genetics. Part A.

Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.

J. Clayton-Smith, A. Fryer, D. Donnai, 1994, Clinical dysmorphology.

Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes

J. Clayton-Smith, J. Moss, C. Oliver, 2019, Journal of Neurodevelopmental Disorders.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

E. Zackai, K. Clarkson, R. Hennekam, 2009, Journal of Medical Genetics.

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

L. Gaunt, J. Clayton-Smith, S. Banka, 2011, American journal of medical genetics. Part A.

Somatic mutation in the MECP2 gene may be a cause of non-lethal neurodevelopmental diosrder in males.

J. Clayton-Smith, S. Ramsden, P. Watson, 2000 .

Velopharyngeal insufficiency: high detection rate of genetic abnormalities if associated with additional features

J. Clayton-Smith, M. Bowden, C. Ockeloen, 2013, Archives of Disease in Childhood.

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.

Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.

J. Clayton-Smith, G. Black, S. Biswas, 2019, Clinical dysmorphology.

Bardet-Biedl Syndrome: An Atypical Phenotype in Brothers with a Proven BBS1 Mutation

I. C. Lloyd, J. Clayton-Smith, P. Beales, 2008, Ophthalmic genetics.

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

J. Clayton-Smith, G. Jondeau, D. Bonneau, 2020, Human Genetics.

Delivering effective genetic services for patients and families affected by cleft lip and/or palate

J. Clayton-Smith, R. Macleod, N. Stock, 2019, European Journal of Human Genetics.

Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2

J. Clayton-Smith, S. Lovell, W. Newman, 2015, Journal of Human Genetics.

De-novo duplication of 5(q13.3q21.1) in a child with vitreo-retinal dysplasia and learning disability.

J. Clayton-Smith, S. Banka, G. Black, 2010, Clinical Dysmorphology.

Cognition in school-age children exposed to levetiracetam, topiramate, or sodium valproate

M. García-Fiñana, J. Clayton-Smith, G. Baker, 2016, Neurology.

Genetic counselling and parental decisions following antenatal diagnosis of sex chromosome aneuploidies

J. Clayton-Smith, D. Donnai, T. Andrews, 1989 .

Sibling recurrence of total anomalous pulmonary venous drainage.

J. Clayton-Smith, D. Study, J. McDermott, 2017, European journal of medical genetics.

Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero.

J. Clayton-Smith, U. Kini, A. Fryer, 2007, European journal of medical genetics.

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity

R. Holt, J. Clayton-Smith, P. Calvas, 2022, Ophthalmic genetics.

A new recessive syndrome of unusual facies, digital abnormalities, and ichthyosis.

J. Clayton-Smith, D. Donnai, 1989, Journal of medical genetics.

Genomic imprinting as a cause of disease

J. Clayton-Smith, 2003, BMJ : British Medical Journal.

Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype

J. Clayton-Smith, S. Lovell, H. Stewart, 2021, American journal of medical genetics. Part A.

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

A. Need, C. Tregidgo, J. Clayton-Smith, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Geroderma osteodysplastica maps to a 4 Mb locus on chromosome 1q24

S. Mundlos, K. Siminovitch, J. Clayton-Smith, 2008, American journal of medical genetics. Part A.

Women with Epilepsy Planning Pregnancy: We Can Improve Outcomes by Improving Care

K. Meador, J. Clayton-Smith, D. Loring, 2013 .

Tensions in implementing the new genetics. Genetic counsellors could be based in genetic centres but be formally linked to general practice.

J. Clayton-Smith, D. Craufurd, H. Kingston, 2000, BMJ.

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

L. Gaunt, J. Clayton-Smith, M. Needham, 2008, Journal of medical case reports.

Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.

J. Rosenfeld, Long Guo, J. Clayton-Smith, 2023, American journal of human genetics.

Clinical utility gene card for: Aarskog–Scott syndrome (faciogenital dysplasia)

J. Clayton-Smith, J. Fryns, A. Orrico, 2011, European Journal of Human Genetics.

HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.

William E. Byrd, Gabor T. Marth, Marni J. Falk, 2023, American journal of human genetics.

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child

J. Clayton-Smith, A. Marson, R. Bromley, 2023, The Cochrane database of systematic reviews.

Alpha‐fetoprotein in Angelman Syndrome

J. Clayton-Smith, 1991, Developmental medicine and child neurology.

Fine-tuning risk assessment with antiepileptic drug use in pregnancy

K. Meador, J. Clayton-Smith, G. Baker, 2015, Neurology.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2023, Human Genomics.

Practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes

J. Clayton-Smith, S. Ramsden, K. Buiting, 2010, BMC medical genetics.

The Irregular Inheritance of Angelman Syndrome and Prader-Willi Syndrome

M. Pembrey, J. Clayton-Smith, S. Malcolm, 1992 .

The clinical picture of the Börjeson–Forssman–Lehmann syndrome in males and heterozygous females with PHF6 mutations

J. Gécz, B. D. de Vries, J. Clayton-Smith, 2004, Clinical genetics.

Radial ray defects, renal ectopia, duodenal atresia and hydrocephalus: the extended spectrum for Fanconi anaemia.

J. Clayton-Smith, A. Spreadborough, H. Rees, 1994, Clinical Dysmorphology.

Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.

J. Clayton-Smith, S. Lovell, D. Schorderet, 2015, Investigative ophthalmology & visual science.

Biliary atresia in Kabuki syndrome.

J. Clayton-Smith, D. Donnai, J. McGaughran, 2000, American journal of medical genetics.

The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis

J. Clayton-Smith, P. Sergouniotis, G. Black, 2023, Genes.

Acromegaloid facial appearance syndrome: a further case report.

J. Clayton-Smith, U. Kini, 2004, Clinical dysmorphology.

Cardiovascular malformations in Turner's syndrome.

J. Clayton-Smith, C. Parchment, 1995, Archives of disease in childhood.

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

John Wei, S. Scherer, J. Rosenfeld, 2014, Human molecular genetics.

Fetal antiepileptic drug exposure and cognitive outcomes at age 6 years (NEAD study): a prospective observational study

K. Meador, J. Clayton-Smith, G. Baker, 2013, The Lancet Neurology.

Effects of fetal antiepileptic drug exposure

Gregory P. Lee, Mike R. Schoenberg, G. Holmes, 2012, Neurology.

Neurodevelopment of babies born to mothers with epilepsy: A prospective observational cohort study

M. García-Fiñana, J. Clayton-Smith, R. Bromley, 2023, Epilepsia.

Intellectual functioning in clinically confirmed fetal valproate syndrome.

J. Clayton-Smith, G. Baker, A. Wood, 2018, Neurotoxicology and teratology.

In utero exposure to valproate increases the risk of isolated cleft palate

J. Clayton-Smith, R. Bromley, B. Irwin, 2015, Archives of Disease in Childhood: Fetal and Neonatal Edition.

Antiepileptic Medications and Breastfeeding: Better News Than Expected?

J. Clayton-Smith, J. Liporace, N. Browning, 2016 .

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.

J. Clayton-Smith, A. Marson, R. Bromley, 2016, The Cochrane database of systematic reviews.

Exploring the genetic basis of 3MC syndrome: Findings in 12 further families

J. Clayton-Smith, S. Bhaskar, S. Nampoothiri, 2016, American journal of medical genetics. Part A.

Delivering the promise of genomics for ophthalmology: congenital cataract as an exemplar

J. Clayton-Smith, S. Ramsden, G. Black, 2014 .

Higher dose corticosteroids in patients admitted to hospital with COVID-19 who are hypoxic but not requiring ventilatory support (RECOVERY): a randomised, controlled, open-label, platform trial

K. C. Morris, Michele R. Shaw, Mohammed Salah Ibrahim, 2023, The Lancet.

Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features

J. Clayton-Smith, P. Jouk, J. Thevenon, 2016, Genetics in Medicine.

Clinical and genetic aspects of KBG syndrome

J. Clayton-Smith, M. Irving, S. Holder, 2016, American journal of medical genetics. Part A.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Ibitoye, Fitzpatrick, Connell, 2017, Genetics in Medicine.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

G. Carvill, I. Scheffer, H. Mefford, 2019, American journal of human genetics.

E. Zackai, E. Roeder, J. Clayton-Smith, 2019, Genetics in Medicine.