Alicia Hernández

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

Pablo I Alarcón, P. Lapunzina, J. Nevado, 2018, Clinical genetics.

Further definition of the proximal 19p13.3 microdeletion/microduplication syndrome and implication of PIAS4 as the major contributor

J. Cigudosa, L. Pérez-Jurado, P. Lapunzina, 2019, Clinical genetics.

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Miguel Ángel Martínez, N. Rahman, Pablo I Alarcón, 2019, European Journal of Human Genetics.