Frances Flinter

Sally Ann Lynch 4 collaborations

None None 4 collaborations

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Anne Barton 2 collaborations

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Caroline F Wright 2 collaborations

Daniel P Gale 2 collaborations

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Oliver Gross 2 collaborations

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Affiliations

Publications (11)

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Correction: A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Pathogenicity and selective constraint on variation near splice sites.

Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.

Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis.

Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.

Guidelines for Genetic Testing and Management of Alport Syndrome.

Correction: Delivering genomic medicine in the UK National Health Service: a systematic review and narrative synthesis.

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

Goldberg-Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.

Réseau de co-auteurs