De novo mutations in GRIN1 cause extensive bilateral polymicrogyria

Andrew E. Fry, Katherine A. Fawcett, Nathanel Zelnik, +38

Brain

NeurogenomicsBrain DevelopmentGeneticsPathologyMolecular Genetics +16

Modeling genetic epileptic encephalopathies using brain organoids

Daniel Steinberg, Srinivasarao Repudi, Afifa Saleem, +9

EMBO Molecular Medicine

Brain OrganoidsBrain DevelopmentComputational NeuroscienceNeuroanatomyCerebral Organoid +7

Testicular differentiation factor SF-1 is required for human spleen development

David Zangen, Yotam Kaufman, Ehud Banne, +8

Journal of Clinical Investigation

SpermatogenesisGeneticsReproductive BiologyEpigeneticsEmbryology +15

Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies

Lena Sagi‐Dain, Idit Maya, Adi Reches, +12

Obstetrics and Gynecology

Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome

Abigail U. Carbonell, Chang Hoon Cho, Jaafar Tindi, +13

Nature Communications

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

Federico Tessadori, Karen Duran, Karen Knapp, +61

The American Journal of Human Genetics

West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation

Ehud Banne, Osama Atawneh, Marco Henneke, +4

Journal of Medical Genetics

National Rapid Genome Sequencing in Neonatal Intensive Care

Daphna Marom, Adi Mory, Sivan Reytan-Miron, +45

JAMA Network Open

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

Katie Ayers, Stefanie Eggers, Ben Rollo, +40

Nature Communications

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews

Monika Weisz‐Hubshman, Hadas Meirson, Rachel Michaelson‐Cohen, +20

European Journal of Paediatric Neurology

Yemenite JewsGenetic DisorderGeneticsPathogenesisSevere Developmental Delay +3