Gabriela Soares

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang et al. · Cell · 2020 · 2.5K citations · Full text

Medicine, Genetics, Neurobiology +17

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 220 citations

Life Sciences, Genetics, Molecular Genetics +17

Identification of novel genetic causes of Rett syndrome-<i>like</i> phenotypes

Fátima Lopes, Mafalda Barbosa, Adam Ameur et al. · Journal of Medical Genetics · 2016 · 194 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

Carol-Anne Martin, Jennie Murray, Paula Carroll et al. · Genes & Development · 2016 · 150 citations · Full text

Life Sciences, Cell Biology, Genetics +17

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Sandra Whalen, Delphine Héron, Thierry Gaillon et al. · Human Mutation · 2011 · 131 citations

Life Sciences, Genetics, Molecular Genetics +17