Tina Barbaro‐Dieber

Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Seema R. Lalani, Jing Zhang, Christian P. Schaaf et al. · The American Journal of Human Genetics · 2014 · 105 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +6

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

Eduardo Calpena, Alexia Hervieu, Teresa Kaserer et al. · The American Journal of Human Genetics · 2019 · 62 citations · Full text

Syndromic Developmental Disorder, Mediator Activity, Genetics +19

Expansion and further delineation of the <i>SETD5</i> phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance

Zöe Powis, Kelly D. Farwell Hagman, Cameron Mroske et al. · Clinical Genetics · 2017 · 46 citations · Full text

Genetics, Genetic Epidemiology, Diagnostic Exome Sequencing +25

De novo variants in <i>EBF3</i> are associated with hypotonia, developmental delay, intellectual disability, and autism

Akemi Tanaka, Megan T. Cho, Rebecca Willaert et al. · Molecular Case Studies · 2017 · 36 citations · Full text

Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

Ash Zawerton, Cyril Mignot, Ashley Sigafoos et al. · Genetics in Medicine · 2019 · 35 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Brain Development +9