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Author Details

Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
1983
161
52
PMIDPaper TitleJournal TitlePublished Year
38070525Population screening requires robust evidence-genomics is no exception.Lancet2024
36410474Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding Proteins.J Mol Biol2023
37541188Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.Am J Hum Genet2023
37221545Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach.Mol Autism2023
37126546Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.Sci Adv2023
37431317Mental health impact of autism on families of children with intellectual and developmental disabilities of genetic origin.JCPP Adv2023
36599696Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> Encephalopathy.Neurology2023
34508595Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.Hum Mol Genet2022
35586607Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.HGG Adv2022
35678782Rare pathogenic variants in WNK3 cause X-linked intellectual disability.Genet Med2022
35616428Novel phosphopantothenoylcysteine synthetase (PPCS) mutations with prominent neuromuscular features: Expanding the phenotypical spectrum of PPCS-related disorders.Am J Med Genet A2022
35484142Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.Nat Commun2022
36351771Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism.Genome Res2022
35876425MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.Mov Disord2022
35254387Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.JAMA Neurol2022
32157975Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences.Br J Psychiatry2021
33542195The psychiatric phenotypes of 1q21 distal deletion and duplication.Transl Psychiatry2021
33510257Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease.Sci Rep2021
33504645<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.Neurology2021
34905022SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.Invest Ophthalmol Vis Sci2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34428295MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases.Nucleic Acids Res2021
34388204Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.PLoS One2021
33938912Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.Invest Ophthalmol Vis Sci2021
34226486Correction: The psychiatric phenotypes of 1q21 distal deletion and duplication.Transl Psychiatry2021
30171209Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.Mol Psychiatry2020
32024982Recommendations for designing genetic test reports to be understood by patients and non-specialists.Eur J Hum Genet2020
31922275Biallelic mutations of TBC1D24 in exercise-induced paroxysmal dystonia.Mov Disord2020
33186545De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.Am J Hum Genet2020
33150406KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.Brain2020
32573653Clinical Genomics in Critically Ill Infants and Children.JAMA2020
33022222Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.Am J Hum Genet2020
32553196De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.Am J Hum Genet2020
32472658DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.Mov Disord2020
32347641Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.Mol Genet Genomic Med2020
30643219Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.Genet Med2019
31316545Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.Front Genet2019
31192531Delineating the expanding phenotype associated with SCAPER gene mutation.Am J Med Genet A2019
30837452Correction: Psychiatric disorders in children with 16p11.2 deletion and duplication.Transl Psychiatry2019
30982612Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.Am J Hum Genet2019
31123110Germline selection shapes human mitochondrial DNA diversity.Science2019
30734472De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability.Am J Med Genet A2019
31034681Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation.Mov Disord2019
30729724Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.Mol Genet Genomic Med2019
30849329De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.Am J Hum Genet2019
31134279ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions.Bioinformatics2019
30993819Mental health and behavioural problems in children with XXYY: a comparison with intellectual disabilities.J Intellect Disabil Res2019
30353918Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.Clin Genet2019
29074561Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.J Med Genet2018
30107533SYT1-associated neurodevelopmental disorder: a case series.Brain2018
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Institute of Ophthalmology, University College London
Co-authored papers 24
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Co-authored papers 23
Detelina Grozeva
Co-authored papers 22
Patrick S Tarpey
Wellcome Trust Sanger Institute
Co-authored papers 21
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Co-authored papers 20
Phillip A Futreal
The University of Texas MD Anderson Cancer Center
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Institute of Ophthalmology, University College London
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Anthony T Moore
UCL Institute of Ophthalmology, University College London
Co-authored papers 16
Sarah Edkins
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Clinical Research Facility, Mercy University Hospital
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University of Cambridge
Co-authored papers 8
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National Health Service Blood and Transplant, University of Cambridge
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Wellcome Sanger Institute
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Andrew Menzies
Wellcome Sanger Institute
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David R FitzPatrick
Institute of Genetics and Cancer, The University of Edinburgh MRC Human Genetics Unit
Co-authored papers 6
Rebecca Shepherd
Murdoch Children's Research Institute, Royal Children's Hospital
Co-authored papers 6
Sara Widaa
Co-authored papers 6
Jill Clayton-Smith
Institute of Human Development, University of Manchester
Co-authored papers 6
Gemma Buck
Co-authored papers 6
Adam Butler
Wellcome Sanger Institute
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Matthew E Hurles
Wellcome Sanger Institute
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Olivera Spasic-Boskovic
Cambridge University Hospitals NHS Foundation Trust
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Jane A Hurst
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Co-authored papers 5
Keiran Raine
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Co-authored papers 5
Jonathan Stephens
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Dragana Josifova
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