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Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release.
A genome scale transcriptional regulatory model of the human placenta.
Discovering the gene-brain-behavior link in autism via generative machine learning.
Integrative analysis of noncoding mutations identifies the druggable genome in preterm birth.
Integrome signatures of lentiviral gene therapy for SCID-X1 patients.
Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential.
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission.