Sally J. Davies

Heath Park
Cardiff, WLS CF144XW, United Kingdom

Last Updated: 09/26/2026

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Found 12 publications

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Journal: European journal of human genetics : EJHG

Published: February 06, 2023

A comparison of different standard-setting methods for professional qualifying dental examination.

A comparison of different standard-setting methods for professional qualifying dental examination.

Journal: Journal of dental education

Published: November 03, 2020

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.

Journal: American journal of human genetics

Published: August 12, 2020

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

Journal: Nature communications

Published: March 24, 2020

Further delineation of Malan syndrome.

Further delineation of Malan syndrome.

Journal: Human mutation

Published: March 28, 2018

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Journal: American journal of human genetics

Published: August 16, 2017

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.

Journal: BMC medical genetics

Published: October 20, 2015

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

Journal: Human mutation

Published: October 13, 2015

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

Journal: Brain : a journal of neurology

Published: August 23, 2015

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.

Journal: American journal of human genetics

Published: April 24, 2015

Further delineation of the KAT6B molecular and phenotypic spectrum.

Further delineation of the KAT6B molecular and phenotypic spectrum.

Journal: European journal of human genetics : EJHG

Published: May 30, 2014

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

Journal: European journal of human genetics : EJHG

Published: December 01, 2011

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Last Updated: 09/26/2026