Maria João Nabais Sá

De novo and biallelic DEAF1 variants cause a phenotypic spectrum

Maria João Nabais Sá, Philip J. Jensik, Stacey McGee et al. · Genetics in Medicine · 2019 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Collagen type <scp>IV</scp>‐related nephropathies in Portugal: pathogenic <i><scp>COL4A5</scp></i> mutations and clinical characterization of 22 families

Maria João Nabais Sá, Susana Sampaio, Ari Lucas Santos Oliveira et al. · Clinical Genetics · 2014 · 25 citations

Life Sciences, Genetics, Molecular Genetics +17

<i>De Novo</i> variants in <i>EEF2</i> cause a neurodevelopmental disorder with benign external hydrocephalus

Maria João Nabais Sá, Alexandra N. Olson, Grace Yoon et al. · Human Molecular Genetics · 2020 · 23 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Deletion of the 5′exons of <i>COL4A6</i> is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome

Maria João Nabais Sá, Nathalie Fieremans, Arjan P.M. de Brouwer et al. · Journal of Medical Genetics · 2013 · 22 citations

Medicine, Genetics, Molecular Genetics +17

De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders

Maria João Nabais Sá, Geniver El Tekle, Arjan P.M. de Brouwer et al. · The American Journal of Human Genetics · 2020 · 22 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16