Caio Robledo D’Angioli Costa Quaio

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Rebecca L. Hood, Matthew A. Lines, Sarah M. Nikkel et al. · The American Journal of Human Genetics · 2012 · 185 citations · Full text

Cause Floating-harbor Syndrome, Molecular Physiology, Signal Transduction +4

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Paweł Stankiewicz, Tahir Naeem Khan, Przemysław Szafrański et al. · The American Journal of Human Genetics · 2017 · 111 citations · Full text

Developmental Anomaly, Chromatin, Developmental Biology +13

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies

Caio Robledo D’Angioli Costa Quaio, Jozélio Freire de Carvalho, Clóvis A. Silva et al. · American Journal of Medical Genetics Part A · 2012 · 95 citations

Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases

Caio Robledo D’Angioli Costa Quaio, Caroline Mônaco Moreira, Gil Monteiro Novo‐Filho et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2020 · 37 citations

Vertical transmission of a frontonasal phenotype caused by a novel <i>ALX4</i> mutation

Débora Romeo Bertola, Melina Guerreiro Rodrigues, Caio Robledo D’Angioli Costa Quaio et al. · American Journal of Medical Genetics Part A · 2013 · 30 citations