R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?

Identifying rare variants in genes related to bone phenotypes in a cohort of postmenopausal women.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·2025

A genome-wide DNA methylation signature for SETD1B-related syndrome.

Clinical epigenetics·2019

Dose and time effects of solar-simulated ultraviolet radiation on the in vivo human skin transcriptome.

The British journal of dermatology·2019

Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations.

Gene·2019

A framework to rank genomic alterations as targets for cancer precision medicine: the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT).

Annals of oncology : official journal of the European Society for Medical Oncology·2018