Large, rare chromosomal deletions associated with severe early-onset obesity

Elena G. Bochukova, Ni Huang, Julia M. Keogh, +9

Nature

ObesityMetabolic SyndromeMetabolic DisorderGeneticsPathology +2

A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism

Adam J. de Smith, Carolin Purmann, Robin Walters, +13

Human Molecular Genetics

Novel DeletionMetabolic DisorderGeneticsMolecular GeneticsIdentified Deletion +17

Hyperexcitable arousal circuits drive sleep instability during aging

Shi‐Bin Li, Valentina Martínez Damonte, Chong Chen, +11

Science

Single-cell multi-cohort dissection of the schizophrenia transcriptome

W. Brad Ruzicka, Shahin Mohammadi, John F. Fullard, +213

Science

NeuropsychologyGeneticsSchizophrenia TranscriptomeSocial SciencesSingle-cell Dissection +16

Cross-platform validation of neurotransmitter release impairments in schizophrenia patient-derived <i>NRXN1</i> -mutant neurons

ChangHui Pak, Tamás Dankó, Vincent R. Mirabella, +23

Proceedings of the National Academy of Sciences

Characterizing regression in Phelan McDermid Syndrome (22q13 deletion syndrome)

Gillian Reierson, Jon Bernstein, Wendy Froehlich-Santino, +6

Journal of Psychiatric Research

Mendelian DisorderGenetic DisorderPediatricsAbnormal DevelopmentDeletion Syndrome

A data-driven single-cell and spatial transcriptomic map of the human prefrontal cortex

Louise A. Huuki-Myers, Abby Spangler, Nicholas J. Eagles, +232

Science

NeurogenomicsHuman Prefrontal CortexBrain MappingBrain OrganizationSpatial Omics +18

Local and global chromatin interactions are altered by large genomic deletions associated with human brain development

Xianglong Zhang, Ying Zhang, Xiaowei Zhu, +7

Nature Communications

Brain DevelopmentEpigenetic ChangeGeneticsMolecular BiologyGenomics +20

DLX5 and DLX6 Expression Is Biallelic and Not Modulated by MeCP2 Deficiency

Birgitt Schüle, Hong Hua Li, Claudia Fisch-Kohl, +2

The American Journal of Human Genetics

Mecp2 DeficiencyDlx6 ExpressionMolecular BiologyMedicineCell Biology +1

Massively parallel characterization of regulatory elements in the developing human cortex

Chengyu Deng, Sean Whalen, Marilyn Steyert, +224

Science

Brain DevelopmentDevelopmental Cognitive NeuroscienceBrain MechanismCerebral OrganoidGene Regulatory Network +21