Wagner Antonio da Rosa Baratela

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

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

Amy Lacroix, Deborah L. Stabley, Rebecca Sahraoui et al. · The American Journal of Human Genetics · 2018 · 110 citations · Full text

Baratela-scott Syndrome, Ggc Repeat Expansion, Exon 1 +11

Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy

Guilherme Lopes Yamamoto, Wagner Antonio da Rosa Baratela, Tatiana Ferreira de Almeida et al. · The American Journal of Human Genetics · 2014 · 52 citations · Full text

Genetic Disorder, Genetics, Pathology +5

Upper Cervical Fusion in Children with Morquio Syndrome

Özgür Dede, Mihir M. Thacker, Kenneth J. Rogers et al. · Journal of Bone and Joint Surgery · 2013 · 41 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