Thabo M. Yates

10 Crichton Street
Edinburgh, SCT EH89AB, United Kingdom

Last Updated: 09/26/2026

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Found 14 publications

Gene2Phenotype: A Database of Structured Human Monogenic Diseases and Pathomechanisms.

Gene2Phenotype: A Database of Structured Human Monogenic Diseases and Pathomechanisms.

Journal: Journal of molecular biology

Published: October 31, 2025

Curating genomic disease-gene relationships with Gene2Phenotype (G2P).

Curating genomic disease-gene relationships with Gene2Phenotype (G2P).

Journal: Genome medicine

Published: March 01, 2024

Calcium requests in a primary care; An observational audit of biochemical requests and frequency of abnormal results.

Calcium requests in a primary care; An observational audit of biochemical requests and frequency of abnormal results.

Journal: Clinical biochemistry

Published: November 10, 2022

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 30, 2021

Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders.

Creation and evaluation of full-text literature-derived, feature-weighted disease models of genetically determined developmental disorders.

Journal: Database : the journal of biological databases and curation

Published: November 02, 2021

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.

Journal: Clinical genetics

Published: April 17, 2021

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.

Journal: European journal of human genetics : EJHG

Published: May 28, 2020

Biallelic variants in GLE1 with survival beyond neonatal period.

Biallelic variants in GLE1 with survival beyond neonatal period.

Journal: Clinical genetics

Published: May 26, 2020

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.

Journal: Human mutation

Published: August 23, 2019

Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.

Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.

Journal: Clinical genetics

Published: August 07, 2018

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: May 30, 2018

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

De novo mutations in HNRNPU result in a neurodevelopmental syndrome.

Journal: American journal of medical genetics. Part A

Published: June 21, 2017

Showing 1-12 of 14

Last Updated: 09/26/2026