Frances A. Flinter
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 58 publications
Expanding the phenotypic spectrum of MECOM-associated syndrome: rare variants are associated with syndromic pulmonary arterial hypertension.
Journal: Journal of medical genetics
Published: July 02, 2025
Direct-to-consumer genetic tests also need to be regulated.
Journal: BMJ (Clinical research ed.)
Published: January 24, 2025
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Journal: Genes
Published: July 14, 2023
Correction: The 2019 and 2021 International workshops on Alport syndrome.
Journal: European journal of human genetics : EJHG
Published: January 23, 2023
Guidelines for Genetic Testing and Management of Alport Syndrome.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: December 21, 2021
The 2019 and 2021 International Workshops on Alport Syndrome.
Journal: European journal of human genetics : EJHG
Published: December 19, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
Journal: The New England journal of medicine
Published: November 10, 2021
Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 24, 2020
Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals.
Journal: Biological psychiatry
Published: March 17, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Journal: American journal of human genetics
Published: December 09, 2019
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 30, 2019
Correction: Delivering genomic medicine in the UK National Health Service: a systematic review and narrative synthesis.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 26, 2019
Last Updated: 09/26/2026