Author
Universidade de São PauloORCID 0000-0003-2567-7360Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Ilaria Parenti, Alina Hesters, Marta Gil‐Salvador…·Frank J. Kaiser
This study identifies MAU2 variants as a new cause of Cornelia de Lange Syndrome and describes associated molecular and clinical features.
Joe Magrino, Veridiana Munford, Davi Jardim Martins…·Brian A. Kelch
The paper identifies a second PCNA mutation, C148S, causing PARD, showing both variants have thermo-stability defects leading to reduced chromatin-bound PCNA and temperature-dependent phenotypes.
Péter Gergics, Cathy Smith, Hironori Bando…·Sally Ann Camper
The paper identifies splice-disruptive POU1F1 variants, including synonymous ones, associated with hypopituitarism using high-throughput splicing assays.
Barbara Leitao Braga, Nathália Lisboa Gomes, Mirian Yumie Nishi…·Berenice Bilharinho Mendonca
The paper investigates genetic variants in DSD-related genes in SGA children with hypospadias and finds no pathogenic variants in non-syndromic cases.