Publications:

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

Orphanet Journal Of Rare Diseases

Urreizti, Roser R; Lopez-Martin, Estrella E; Martinez-Monseny, Antonio A; Pujadas, Montse M; Castilla-Vallmanya, Laura L; Pérez-Jurado, Luis Alberto LA; Serrano, Mercedes M; Natera-de Benito, Daniel D; Martínez-Delgado, Beatriz B; Posada-de-la-Paz, Manuel M; Alonso, Javier J; Marin-Reina, Purificación P; O'Callaghan, Mar M; Grinberg, Daniel D; Bermejo-Sánchez, Eva E; Balcells, Susanna S

Publication Date: 2020-02-10

Variant appearance in text: rs72650672

PubMed Link: 32041641

Variant Present in the following documents:

• 13023_2020_1317_MOESM1_ESM.pdf

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: rs72650672

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

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