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Publications by R.P. Trevor Cole

NSD1 Mutations Are the Major Cause of Sotos Syndrome and Occur in Some Cases of Weaver Syndrome but Are Rare in Other Overgrowth Phenotypes

American Journal of Human Genetics

English

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Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome

American Journal of Human Genetics

English

Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome

American Journal of Human Genetics

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Analysis of the NSD1 Promoter Region in Patients With a Sotos Syndrome Phenotype

Journal of Human Genetics

English

NF1 Gene Mutations Are the Major Molecular Event in Neurofibromatosis-Noonan Syndrome

Journal of Neurology & Stroke

English

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects

American Journal of Human Genetics

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Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients

Multidisciplinary

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Rare NonconservativeLRP6Mutations Are Associated With Metabolic Syndrome

English

1094 BöRjeson - Forssman - Lehmann Syndrome: A Rare but Important Cause of Obesity

Pediatric Research

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Non-Hotspot-Related Breakpoints of Common Deletions in Sotos Syndrome Are Located Within Destabilised DNA Regions

Journal of Medical Genetics

English