SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, +111

The American Journal of Human Genetics

Down SyndromeDeletion SyndromeDevelopmental BiologyGenetic DisorderGenetics +9

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

Laura Adang, Omar Sherbini, Laura J. Ball, +38

Molecular Genetics and Metabolism

MedicineRheumatologySymptomatic CareConsensus Statement

Aicardi goutières syndrome is associated with pulmonary hypertension

Laura Adang, David B. Frank, Ahmed Gilani, +12

Molecular Genetics and Metabolism

HypertensionHeart FailurePulmonary Arterial HypertensionPulmonary CirculationCardiovascular Disease +7

Phenotypic and Imaging Spectrum Associated With WDR45

Laura Adang, Amy Pizzino, Alka Malhotra, +19

Pediatric Neurology

MedicineGeneticsPathologyDisease Gene IdentificationImaging Spectrum Associated +2

Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry

Xinying Hong, Arun Kumar, Jessica Daiker, +21

Analytical Chemistry

Randomized Clinical Trial of<scp>First‐Line</scp>Genome Sequencing in Pediatric White Matter Disorders

Adeline Vanderver, Geneviève Bernard, Guy Helman, +27

Annals of Neurology

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform

Guy Helman, Asako Takanohashi, Tracy L. Hagemann, +15

Human Mutation

Alexander Disease ResultsTranscriptional RegulationUncharacterized Gfap IsoformAberrant OverexpressionGenetic Disorder +12

High-Content Genome-Wide RNAi Screen Reveals<i>CCR3</i>as a Key Mediator of Neuronal Cell Death

Jianmin Zhang, Huaishan Wang, Omar Sherbini, +14

eNeuro

Expanded phenotype of AARS1-related white matter disease

Guy Helman, Marisa I. Mendes, Francesco Nicita, +34

Genetics in Medicine

Autoimmune DiseaseDisease MechanismMedicineWhite MatterPathogenesis +3

The AAA + ATPase Thorase is neuroprotective against ischemic injury

Jianmin Zhang, Jia Yang, Huaishan Wang, +11

Journal of Cerebral Blood Flow & Metabolism