Johanna Acosta

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

Chest wall motion analysis in healthy volunteers and adults with cystic fibrosis using a novel Kinect-based motion tracking system

James M. Harte, Christopher Golby, Johanna Acosta et al. · Medical & Biological Engineering & Computing · 2016 · 39 citations · Full text

Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome

Mary García-Acero, Johanna Acosta · Molecular Syndromology · 2017 · 28 citations · Full text

Phenotypic expansion of the <scp><i>BPTF</i></scp>‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Kevin E. Glinton, Anna Hurst, Kevin M. Bowling et al. · American Journal of Medical Genetics Part A · 2021 · 26 citations · Full text

Brain Development, Genetics, Motor Development +22

Exercise improvement after pectus excavatum repair is not related to chest wall function†

Johanna Acosta, Amy Bradley, Vinesh Raja et al. · European Journal of Cardio-Thoracic Surgery · 2013 · 21 citations · Full text