Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic FeaturesPaweł Stankiewicz, Yaping Yang, Tahir Naeem Khan et al.|The American Journal of Human Genetics|2017Cited by 115
Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseasesCaio Robledo D’Angioli Costa Quaio, Wagner Antonio da Rosa Baratela, Ana Lígia Buzolin et al.|American Journal of Medical Genetics Part C Seminars in Medical Genetics|2020Cited by 39
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseasesCaio Robledo D’Angioli Costa Quaio, Chong Ae Kim, María José Rivadeneira Obando et al.|Genetics and Molecular Biology|2021Cited by 17
Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patientsCaio Robledo D’Angioli Costa Quaio, Chong Ae Kim, Christine Hsiaoyun Chung et al.|American Journal of Medical Genetics Part C Seminars in Medical Genetics|2021Cited by 14
Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technologyAna Lígia Buzolin, Miguel Mitne‐Neto, Caroline Mônaco Moreira et al.|Human Genomics|2017Cited by 13