T. Yates

Multi-ancestry meta-analysis of host genetic susceptibility to tuberculosis identifies shared genetic architecture

Y. Kamatani, A. Metspalu, M. Kubo, 2022, medRxiv.

Management of metastatic phaeochromocytoma and paraganglioma: use of iodine-131-meta-iodobenzylguanidine therapy in a tertiary referral centre.

P. Mark, N. Reed, C. Perry, 2015, QJM : monthly journal of the Association of Physicians.

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

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

De novo mutations in HNRNPU result in a neurodevelopmental syndrome

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

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.

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.

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.

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

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

Baraitser–Winter cerebrofrontofacial syndrome

D. Pilz, D. Pilz, C. Turner, 2017, Clinical genetics.

Biallelic variants in GLE1 with survival beyond neonatal period

M. Larsen, Philippe M. Campeau, M. Balasubramanian, 2020, Clinical genetics.