De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Katherine L. Helbig, Robert J. Lauerer, Jacqueline C Bahr, +129

The American Journal of Human Genetics

Epileptic EncephalopathyNeurobiology Of DiseasePathogenesisExperimental NeuropathologyPathology +8

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Ingo Helbig, Tania López-Hernández, Oded Shor, +76

The American Journal of Human Genetics

Epileptic EncephalopathySignal TransductionDevelopmental BiologyMolecular NeuroscienceMedicine +8

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort

Anne Rochtus, Heather E. Olson, Lacey Smith, +10

Epilepsia

Assessing the landscape of <i>STXBP1</i>-related disorders in 534 individuals

Julie Xian, Shridhar Parthasarathy, Sarah M. Ruggiero, +51

Brain

<i><scp>PCDH</scp>19</i>‐related epilepsy is associated with a broad neurodevelopmental spectrum

Lacey Smith, Nilika S. Singhal, Christelle Moufawad El Achkar, +4

Epilepsia

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Heather E. Olson, Nolwenn Jean‐Marçais, Edward Yang, +53

The American Journal of Human Genetics

Developmental AnomalyFacial DysmorphismDevelopmental BiologyMendelian DisorderGenetic Disorder +7

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila

Jonas Straub, Enrico D.H. Konrad, Johanna Grüner, +25

The American Journal of Human Genetics

Epileptic EncephalopathyDevelopmental BiologyRhobtb2 CauseGenetic DisorderDevelopmental Genetics +8

Children’s rare disease cohorts: an integrative research and clinical genomics initiative

Shira Rockowitz, Nicholas LeCompte, Mary M. Carmack, +18

npj Genomic Medicine

RUNX transcription factors: association with pediatric asthma and modulated by maternal smoking

Kathleen J. Haley, Jessica Lasky‐Su, Sara E. Manoli, +4

American Journal of Physiology-Lung Cellular and Molecular Physiology

AsthmaInflammatory Lung DiseaseLung InflammationGeneticsPediatric Asthma +16

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies

Peter D. Galer, Shiva Ganesan, David Lewis‐Smith, +15

The American Journal of Human Genetics