Frances L. Raymond

Cambridge Biomedical Campus, Hills Road
Cambridge, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 107 publications

Fathers' and Mothers' support needs and support experiences after rapid genome sequencing.

Fathers' and Mothers' support needs and support experiences after rapid genome sequencing.

Journal: European journal of human genetics : EJHG

Published: June 27, 2025

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.

Journal: Genetics in medicine open

Published: March 19, 2025

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Journal: ArXiv

Published: February 24, 2025

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Journal: medRxiv : the preprint server for health sciences

Published: November 28, 2024

Personal journeys to and in human genetics and dysmorphology.

Personal journeys to and in human genetics and dysmorphology.

Journal: American journal of medical genetics. Part A

Published: November 05, 2023

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Journal: Annals of neurology

Published: August 24, 2023

Population screening requires robust evidence-genomics is no exception.

Population screening requires robust evidence-genomics is no exception.

Journal: Lancet (London, England)

Published: June 30, 2023

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.

Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.

Journal: Science advances

Published: May 01, 2023

Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach.

Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach.

Journal: Molecular autism

Published: January 16, 2023

Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding Proteins.

Mapping the Constrained Coding Regions in the Human Genome to Their Corresponding Proteins.

Journal: Journal of molecular biology

Published: September 10, 2022

Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency.

Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency.

Journal: Thrombosis and haemostasis

Published: June 28, 2022

Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.

Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.

Journal: Neurology

Published: June 25, 2022

Showing 1-12 of 107

Last Updated: 09/26/2026