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Author Details

Richard H Scott
Great Ormond Street Hospital
2006
49
28
PMIDPaper TitleJournal TitlePublished Year
35876425MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.Mov Disord2022
33350578An online compendium of treatable genetic disorders.Am J Med Genet C Semin Med Genet2021
33912662Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.Neurol Genet2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34056100Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.Neurol Genet2021
32196547Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.Hum Mol Genet2020
31782611Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome).Am J Med Genet A2020
31395438Genomic medicine: time for health-care transformation.Lancet2019
31308101Genomics: the power, potential and pitfalls of the new technologies and how they are transforming healthcare.Clin Med (Lond)2019
29196579Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy.Neurology2018
30087272Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.Brain Sci2018
28961683Contiguous gene deletion of TBX5 and TBX3: report of another case.Clin Dysmorphol2018
27576021Metaphyseal dysplasia, Spahr type; missense MMP13 mutations in two Iraqi siblings.Clin Dysmorphol2017
28369758Atypical dermal melanocytosis: a diagnostic clue in constitutional mismatch repair deficiency syndrome.Br J Dermatol2017
29198722A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.Am J Hum Genet2017
28920961Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.Nat Genet2017
27899602The Human Phenotype Ontology in 2017.Nucleic Acids Res2017
28041643Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.Am J Hum Genet2017
26971886Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings.Am J Med Genet A2016
26645412GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.Dev Med Child Neurol2016
26993267Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.J Med Genet2016
27029630Delineation of the movement disorders associated with FOXG1 mutations.Neurology2016
25118028Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.Eur J Hum Genet2015
26275891Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.Prenat Diagn2015
263961277q11.23-q21.2 Microdeletion is associated with moderate structural brain abnormalities and global developmental delay: first report.BMJ Case Rep2015
26364767Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.Am J Med Genet A2015
25655089De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.Hum Mutat2015
24241535Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.Nat Genet2014
25439728Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.Am J Hum Genet2014
24700531A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.Am J Med Genet A2014
24726473Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.Am J Hum Genet2014
24300289The postnatal features of bent bone dysplasia-FGFR2 type.Clin Dysmorphol2014
24217912The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.Nucleic Acids Res2014
23723412What is array CGH?Arch Dis Child Educ Pract Ed2013
23833095Temporal skin folds in a female infant with an unbalanced translocation with breakpoints Xq22.1 and 6p22.3: a new association?BMJ Case Rep2013
22541558Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.Am J Hum Genet2012
22470196Stratification of Wilms tumor by genetic and epigenetic analysis.Oncotarget2012
21954287Phenotypic spectrum associated with CASK loss-of-function mutations.J Med Genet2011
20054657A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma.Fam Cancer2010
19948536Constitutional translocation breakpoint mapping by genome-wide paired-end sequencing identifies HACE1 as a putative Wilms tumour susceptibility gene.J Med Genet2010
19412175Common variations in BARD1 influence susceptibility to high-risk neuroblastoma.Nat Genet2009
18245390Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation.J Med Genet2008
18836444Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.Nat Genet2008
18463370Chromosome 6p22 locus associated with clinically aggressive neuroblastoma.N Engl J Med2008
17259933Medulloblastoma, acute myelocytic leukemia and colonic carcinomas in a child with biallelic MSH6 mutations.Nat Clin Pract Oncol2007
17601929Familial T-cell non-Hodgkin lymphoma caused by biallelic MSH2 mutations.J Med Genet2007
17613548Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players.Hum Mol Genet2007
16690728Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour.J Med Genet2006
16857697Surveillance for Wilms tumour in at-risk children: pragmatic recommendations for best practice.Arch Dis Child2006
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Collaborators

Great Ormond Street Hospital NHS Foundation Trust
Co-authored papers 12
UCL Great Ormond Street Institute of Child Health, University College London
Co-authored papers 5
University of Cambridge
Co-authored papers 4
American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison
Co-authored papers 3
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 3
UCL Great Ormond Street Institute of Child Health, University College London
Co-authored papers 3
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 3
Clinical and Public Health Group
Co-authored papers 3
UCL Great Ormond Street Institute of Child Health Library
Co-authored papers 3
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Cardiff University
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Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals
Co-authored papers 3
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 3
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 3
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 3
UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust
Co-authored papers 3
National Health Service Blood and Transplant, University of Cambridge
Co-authored papers 2
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Perelman School of Medicine at the University of Pennsylvania
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Children's Hospital of Philadelphia
Co-authored papers 2
Christian-Albrechts-University of Kiel
Co-authored papers 2
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 2
William Harvey Research Institute, Queen Mary University of London
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Co-authored papers 2
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Children's Hospital of Philadelphia
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UCL Great Ormond Street Institute of Child Health, University College London
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Guy's and St Thomas' Hospital
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University of Cambridge
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