John L. Tolmie
Glasgow, SCT, United Kingdom
Last Updated: 09/26/2026
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Found 22 publications
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.
Journal: Scientific reports
Published: November 03, 2021
The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.
Journal: European journal of human genetics : EJHG
Published: September 18, 2015
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
Journal: Circulation. Cardiovascular genetics
Published: January 12, 2015
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.
Journal: The Journal of clinical investigation
Published: November 17, 2014
Mosaic structural variation in children with developmental disorders.
Journal: Human molecular genetics
Published: November 07, 2014
Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.
Journal: Journal of molecular medicine (Berlin, Germany)
Published: September 29, 2014
Chromosomal microarray analysis for looked after children: a double-edged sword?
Journal: Archives of disease in childhood
Published: September 28, 2014
How to use… microarray comparative genomic hybridisation to investigate developmental disorders.
Journal: Archives of disease in childhood. Education and practice edition
Published: September 06, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Journal: Journal of medical genetics
Published: August 16, 2014
The phenotype of congenital insensitivity to pain due to the NaV1.9 variant p.L811P.
Journal: European journal of human genetics : EJHG
Published: August 14, 2014
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.
Journal: Nature communications
Published: January 12, 2014
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Journal: Nature genetics
Published: January 01, 2014
Last Updated: 09/26/2026