Ruta Marcinkute

Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c.5395G > A p.(Glu1799Lys) missense variant

Diana S. Johnson, S. Lynch, P. Turnpenny, 2021, American journal of medical genetics. Part A.

Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

J. Clayton-Smith, A. Nordgren, B. Dallapiccola, 2020, Orphanet Journal of Rare Diseases.

Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers

A. Howell, D. Evans, J. Harvey, 2021, Journal of Medical Genetics.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

R. Pfundt, B. D. de Vries, M. Bamshad, 2021, medRxiv.

The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases

B. Bonanni, M. Urioste, J. Benítez, 2020, Cancers.