F. Lucy Raymond

University of Cambridge — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

55h-index11.5kcitations157works2.92yr avg
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Research Topics

Genetics and Neurodevelopmental Disorders(54), Genomics and Rare Diseases(51), Genomic variations and chromosomal abnormalities(23), Retinal Development and Disorders(16), Congenital heart defects research(11)

Publications136 total

Fathers’ and Mothers’ support needs and support experiences after rapid genome sequencing
European Journal of Human Genetics·2025· 2 citedOpen Access
Fathers’ and Mothers’ Support Needs and Support Experiences after Rapid Genome Sequencing
2025Open Access
Personal journeys to and in human genetics and dysmorphology
UNC Libraries·2025Open Access
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum
Annals of Neurology·2025· 2 citedOpen Access
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia
Neurology·2024· 7 citedOpen Access
The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
2024· 1 citedOpen Access
Personal journeys to and in human genetics and dysmorphology
American Journal of Medical Genetics Part A·2024· 2 citedOpen Access
Population screening requires robust evidence—genomics is no exception
The Lancet·2023· 49 cited
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
The American Journal of Human Genetics·2023· 23 citedOpen Access
Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach
Molecular Autism·2023· 10 citedOpen Access
Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders
2023Open Access
Clinical and Neurophysiologic Phenotypes in Neonates With <i>BRAT1</i> Encephalopathy
Neurology·2023· 11 citedOpen Access
Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability
2022Open Access
Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding Proteins
Journal of Molecular Biology·2022· 1 citedOpen Access
Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism
Genome Research·2022· 22 citedOpen Access
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
npj Genomic Medicine·2022· 21 citedOpen Access
Mapping the Constrained Coding Regions in the human genome to their corresponding proteins
2022Open Access
Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study
The Lancet Psychiatry·2022· 47 citedOpen Access
<i>MED27</i>, <i>SLC6A7,</i> and <i>MPPE1</i> Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia
Movement Disorders·2022· 11 citedOpen Access
Rare pathogenic variants in WNK3 cause X-linked intellectual disability
Genetics in Medicine·2022· 14 citedOpen Access
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Frequent Co-authors

Keren Carss(14), Patrick Tarpey(11), Charles E. Schwartz(11), Jozef Gécz(11), Michael R. Stratton(9), Detelina Grozeva(9), Gillian Turner(8), P. Andrew Futreal(8), Anna Hackett(7), Andrew R. Webster(7), Annabel Whibley(6), Sarah Edkins(6), Willem H. Ouwehand(6), Michel Michaelides(6), Courtney E. French(6), Alba Sanchis‐Juan(6), Manju A. Kurian(6), Gavin Arno(6), Vincent Plagnol(5), Christopher J. Penkett(5)