T. M. Yates

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

Carol A. Bocchini, Marina T. DiStefano, E. Birney, 2022, medRxiv.

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

D. Fitzpatrick, Ian Simpson, A. Laín, 2021, medRxiv.

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

R. Rosch, M. A. Basson, Z. Tümer, 2021, Clinical genetics.

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

R. Pfundt, W. Chung, S. Küry, 2021, European Journal of Human Genetics.

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

A. Fry, T. Rinne, M. Parker, 2020, Human mutation.

De novo mutations in HNRNPU result in a neurodevelopmental syndrome

Z. Stark, S. Sadedin, M. Balasubramanian, 2017, American journal of medical genetics. Part A.

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

R. Møller, C. Wallgren‐Pettersson, M. Balasubramanian, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.