Publications by authors named "Lucy Raymond"

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F
Fathers' and Mothers' support needs and support experiences after rapid genome sequencing.
Helen Dolling, Sophie Rowitch, Malachy Bromham, Stephanie Archer, Sara O'Curry, F Lucy Raymond

Eur J Hum Genet· December 2025

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Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.
Sandra Coppens, Nicolas Deconinck, Patricia Sullivan, Andrei Smolnikov, Joshua S Clayton, F Lucy Raymond

Ann Neurol· April 2025

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.
Eleanor C Broeren, Vanessa N Gitau, Alicia B Byrne, Pamela Ajuyah, Marie B Balzotti, F Lucy Raymond

Genet Med Open· April 2025

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-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, F Lucy Raymond

ArXiv· February 2025

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Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
Sarah U Morton, Gregory Costain, Courtney E French, Emma Wakeling, Anna Szuto, Lucy Raymond

Neurology· January 2025

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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.
Eleanor Broeren, Vanessa Gitau, Alicia Byrne, Pamela Ajuyah, Marie Balzotti, F Lucy Raymond

medRxiv· November 2024

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Personal journeys to and in human genetics and dysmorphology.
Charles E Schwartz, Arthur S Aylsworth, Judith Allanson, Agatino Battaglia, John C Carey, F Lucy Raymond

Am J Med Genet A· June 2024

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Population screening requires robust evidence-genomics is no exception.
Clare Turnbull, Helen V Firth, Andrew O M Wilkie, William Newman, F Lucy Raymond

Lancet· February 2024

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Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Andrea Accogli, Sheng-Jia Lin, Mariasavina Severino, Sung-Hoon Kim, Kevin Huang, Lucy Raymond

Genet Med· November 2023

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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Alba Sanchis-Juan, Karyn Megy, Jonathan Stephens, Camila Armirola Ricaurte, Eleanor Dewhurst, F Lucy Raymond

Am J Hum Genet· August 2023

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Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach.
Nicholas Donnelly, Adam Cunningham, Sergio Marco Salas, Matthew Bracher-Smith, Samuel Chawner, F Lucy Raymond

Mol Autism· May 2023

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Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Victoria Patterson, Farid Ullah, Laura Bryant, John N Griffin, Alpa Sidhu, F Lucy Raymond

Sci Adv· April 2023

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Clinical and Neurophysiologic Phenotypes in Neonates With Encephalopathy.
Evelina Carapancea, Marie-Coralie Cornet, Mathieu Milh, Lucrezia De Cosmo, Eric J Huang, F Lucy Raymond

Neurology· March 2023

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Mental health impact of autism on families of children with intellectual and developmental disabilities of genetic origin.
Jeanne Wolstencroft, Ramya Srinivasan, Jeremy Hall, Marianne B M van den Bree, Michael J Owen, F Lucy Raymond

JCPP Adv· March 2023

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Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism.
Dale J Annear, Geert Vandeweyer, Alba Sanchis-Juan, F Lucy Raymond, R Frank Kooy

Genome Res· January 2023

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Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding Proteins.
Marcia A Hasenahuer, Alba Sanchis-Juan, Roman A Laskowski, James A Baker, James D Stephenson, F Lucy Raymond

J Mol Biol· January 2023

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MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia.
Kimberley M Reid, Robert Spaull, Smrithi Salian, Katy Barwick, Esther Meyer, F Lucy Raymond

Mov Disord· October 2022

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Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H Z Li, Robert A Heaton, F Lucy Raymond

NPJ Genom Med· October 2022

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Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Sébastien Küry, Jinwei Zhang, Thomas Besnard, Alfonso Caro-Llopis, Xue Zeng, Raymond J Louie, F Lucy Raymond

Genet Med· September 2022

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Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study.
Jeanne Wolstencroft, Francesca Wicks, Ramya Srinivasan, Sarah Wynn, Tamsin Ford, F Lucy Raymond

Lancet Psychiatry· September 2022

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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
Courtney E French, Helen Dolling, Karyn Mégy, Alba Sanchis-Juan, Ajay Kumar, F Lucy Raymond

HGG Adv· July 2022

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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review.
Sarah U Morton, John Christodoulou, Gregory Costain, Francesco Muntoni, Emma Wakeling, F Lucy Raymond

JAMA Neurol· April 2022

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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Hong Joo Kim, Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O'Donovan, F Lucy Raymond

Nat Commun· April 2022

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SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
Neringa Jurkute, Fabiana D'Esposito, Anthony G Robson, Robert D S Pitceathly, Francesca Cordeiro, F Lucy Raymond

Invest Ophthalmol Vis Sci· December 2021

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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

N Engl J Med· November 2021

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