Andrea H Németh

Recommendations for the Predictive Genetic Test in Huntington's Disease Committee and Working Group 'genetic Testing Counselling' of the European Huntington Disease Network †, ‡

D. Craufurd, R. Macleod, F. Squitieri, 2022 .

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design

C. Shaw-Smith, P. Clouston, T. Dabir, 2023, Movement disorders : official journal of the Movement Disorder Society.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.