Skip to Main Content

Author Details

Jill Clayton-Smith
Institute of Human Development, University of Manchester
1988
294
70
PMIDPaper TitleJournal TitlePublished Year
365039173MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum.Clin Dysmorphol2023
37666366Neurodevelopmental outcomes in children and adults with Fetal Valproate Spectrum Disorder: A contribution from the ConcePTION project.Neurotoxicol Teratol2023
37647086Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.Cochrane Database Syst Rev2023
37646677Timing of Primary Surgery for Cleft Palate.N Engl J Med2023
37673932Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.Eur J Hum Genet2023
37352860Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans.Am J Hum Genet2023
37107549The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis.Genes (Basel)2023
37403560Neurodevelopment of babies born to mothers with epilepsy: A prospective observational cohort study.Epilepsia2023
36681873A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.Genet Med2023
34240408A standard of care for individuals with PIK3CA-related disorders: An international expert consensus statement.Clin Genet2022
35773560Correction to: Coâ¿¿designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.J Community Genet2022
35577938Recommendations for whole genome sequencing in diagnostics for rare diseases.Eur J Hum Genet2022
35523996Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.J Community Genet2022
33879512Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.J Med Genet2022
34894057Further delineation of phenotypic spectrum of SCN2A-related disorder.Am J Med Genet A2022
33353976Correction: Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.Genet Med2021
33909992Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.Am J Hum Genet2021
34590329Prevalence of fetal alcohol spectrum disorder in Greater Manchester, UK: An active case ascertainment study.Alcohol Clin Exp Res2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34423300Identification of <i>LAMA1</i> mutations ends diagnostic odyssey and has prognostic implications for patients with presumed Joubert syndrome.Brain Commun2021
34385668Safety 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.Genet Med2021
34174467The adaptive functioning profile of Pitt-Hopkins syndrome.Eur J Med Genet2021
34061450Recurrent KCNT2 missense variants affecting p.Arg190 result in a recognizable phenotype.Am J Med Genet A2021
34171171The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single-institution experience.Clin Otolaryngol2021
31048080Congenital cataracts in females caused by BCOR mutations; report of six further families demonstrating clinical variability and diverse genetic mechanisms.Eur J Med Genet2020
31844176Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.Genet Med2020
31836858Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.Eur J Hum Genet2020
31980905A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.Hum Genet2020
32064904Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families.Cleft Palate Craniofac J2020
31848469Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.Genet Med2020
32334637Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders.Orphanet J Rare Dis2020
32409512<i>De novo</i> mutations in the X-linked <i>TFE3</i> gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.J Med Genet2020
32376980Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.Genet Med2020
32539836Mowat-Wilson syndrome: growth charts.Orphanet J Rare Dis2020
32534991Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.Eur J Med Genet2020
31481360Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.Arch Dis Child2020
30660966Fetal antiepileptic drug exposure and learning and memory functioning at 6⿯years of age: The NEAD prospective observational study.Epilepsy Behav2019
31719542Clinical and genetic variability in children with partial albinism.Sci Rep2019
30217753Clinical and genetic heterogeneity in Melkersson-Rosenthal Syndrome.Eur J Med Genet2019
30097991Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties.JIMD Rep2019
31300507Timing Of Primary Surgery for cleft palate (TOPS): protocol for a randomised trial of palate surgery at 6 months versus 12 months of age.BMJ Open2019
31586495Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes.J Neurodev Disord2019
31324220Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability.Orphanet J Rare Dis2019
31235867Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.Eur J Hum Genet2019
31479583The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.Am J Med Genet C Semin Med Genet2019
31274573Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis.Clin Dysmorphol2019
30982612Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.Am J Hum Genet2019
30892814Genotype-phenotype specificity in Menke-Hennekam syndrome caused by missense variants in exon 30 or 31 of CREBBP.Am J Med Genet A2019
30734472De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.Am J Med Genet A2019
30683926Delivering effective genetic services for patients and families affected by cleft lip and/or palate.Eur J Hum Genet2019
  • 1 - 50 of 294

Recommended Authors

Shagun Aggarwal
Nizam's Institute of Medical Sciences
Career Start Year 2010
Number of shared co-authors 7
Saumya Shekhar Jamuar
Pediatric Academic Clinical Programme, Duke-NUS Medical School
Career Start Year 2010
Number of shared co-authors 18
Harry Pachajoa
Universidad Icesi
Career Start Year 2009
Number of shared co-authors 7
Daniel E Pineda-Alvarez
Invitae Corporation
Career Start Year 2009
Number of shared co-authors 5
Rasim O Rosti
University of Virginia
Career Start Year 2008
Number of shared co-authors 13
Marzia Pollazzon
Azienda USL-IRCCS di Reggio Emilia
Career Start Year 2008
Number of shared co-authors 13
Ahmet Okay Caglayan
Yale School of Medicine
Career Start Year 2007
Number of shared co-authors 5
Bryn D Webb
Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison
Career Start Year 2006
Number of shared co-authors 8
Claire Beneteau
Hopital Universitaire de Nantes
Career Start Year 2005
Number of shared co-authors 18
David A Koolen
Donders Institute for Brain, Radboud University Medical Center
Career Start Year 2002
Number of shared co-authors 54
Isabel Filges
University Hospital Basel and University of Basel
Career Start Year 2002
Number of shared co-authors 13
Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Career Start Year 2001
Number of shared co-authors 91
Tony Roscioli
Prince of Wales Hospital
Career Start Year 2000
Number of shared co-authors 45
Ghada M H Abdel-Salam
Human Genetics and Genome Research Institute, National Research Centre
Career Start Year 1999
Number of shared co-authors 16
Christ??le du Souich
University of British Columbia
Career Start Year 1998
Number of shared co-authors 9
Linlea Armstrong
University of British Columbia
Career Start Year 1997
Number of shared co-authors 20
Vernon R Sutton
Baylor College of Medicine
Career Start Year 1997
Number of shared co-authors 38
Kym M Boycott
Children's Hospital of Eastern Ontario
Career Start Year 1996
Number of shared co-authors 77
Ian D Krantz
Children's Hospital of Philadelphia
Career Start Year 1996
Number of shared co-authors 51
Ariana Kariminejad
Clinical Genetics Deaprtment
Career Start Year 1996
Number of shared co-authors 35
Robin D Clark
Loma Linda University Health
Career Start Year 1994
Number of shared co-authors 22
Theresa A Grebe
Phoenix Children's Hospital
Career Start Year 1992
Number of shared co-authors 26
Kenjiro Kosaki
Center for Medical Genetics, Keio University School of Medicine
Career Start Year 1991
Number of shared co-authors 32
Felicity Collins
Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital
Career Start Year 1990
Number of shared co-authors 21
Petter Str??mme
University of Oslo
Career Start Year 1987
Number of shared co-authors 25
Howard M Saal
Cincinnati Children's Hospital Medical Center
Career Start Year 1985
Number of shared co-authors 15
Mira Irons
Children's Hospital Boston, Harvard Medical School
Career Start Year 1985
Number of shared co-authors 14
Nancy B Spinner
The Perelman School of Medicine at the University of Pennsylvania
Career Start Year 1984
Number of shared co-authors 28
Jack Goldblatt
King Edward Memorial Hospital for Women
Career Start Year 1978
Number of shared co-authors 17
Kenneth Rosenbaum
Rare Disease Institute, Children's National Hospital
Career Start Year 1971
Number of shared co-authors 14

Collaborators

Graeme C M Black
Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital
Co-authored papers 43
Sofia Douzgou
Haukeland University Hospital
Co-authored papers 22
Siddharth Banka
University of Manchester
Co-authored papers 19
David R FitzPatrick
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 14
Isabel K Temple
University of Southampton
Co-authored papers 12
Michael Privitera
University of Cincinnati Gardner Neuroscience Institute, University of Cincinnati
Co-authored papers 11
Charu Deshpande
Guy's Hospital
Co-authored papers 9
Jamie M Ellingford
University of Manchester
Co-authored papers 9
Bert B A de Vries
Radboud University Medical Center
Co-authored papers 9
Sarju G Mehta
Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 9
Sally Ann Lynch
University College Dublin
Co-authored papers 8
Anne Slavotinek
Cincinnati Children's Hospital Medical Center
Co-authored papers 8
Shehla Mohammed
Guy's and St Thomas' NHS Foundation Trust
Co-authored papers 8
Sahar Mansour
St George's University Hospitals NHS Foundation Trust
Co-authored papers 8
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 7
David J Burn
Population Health Sciences Institute, Newcastle University
Co-authored papers 7
Fiona Stewart
Belfast City Hospital
Co-authored papers 7
Georgina Hall
The University of Melbourne, The Royal Children's Hospital
Co-authored papers 7
Elaine H Zackai
Children's Hospital of Philadelphia
Co-authored papers 7
Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 6
Panagiotis I Sergouniotis
University of Manchester
Co-authored papers 6
Andrew O M Wilkie
NIHR Oxford Biomedical Research Centre
Co-authored papers 6
Helen V Firth
Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 6
William B Dobyns
University of Minnesota
Co-authored papers 6
Jane A Hurst
Great Ormond Street Hospital NHS Foundation Trust
Co-authored papers 6
Bruno Dallapiccola
Co-authored papers 5
Alessandra Renieri
University of Siena
Co-authored papers 5
Soo-Mi Park
Cambridge University Hospital, NHS Foundation Trust
Co-authored papers 4
Christoffer Nell??ker
Big Data Institute, University of Oxford
Co-authored papers 4
Morad Ansari
Western General Hospital
Co-authored papers 4
Release 1.2