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List of works by Jill Clayton-Smith

Cognitive function at 3 years of age after fetal exposure to antiepileptic drugs

scientific article

Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport ⬇️

scientific article published on May 2, 2003

Cutaneous features in 17q21.31 deletion syndrome: a differential diagnosis for cardio-facio-cutaneous syndrome

scientific article

Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability

scientific article published on 19 July 2019

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

scientific article

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

scientific article

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

scientific article

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

scientific article

Large, rare chromosomal deletions associated with severe early-onset obesity

scientific article

Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance

scientific article

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

scientific article

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

scientific article

The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience

scientific article published in 2021

Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome

scientific article

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