Herbert M. Lachman

Ultrarare Variants in Genes Involved in Intestinal Microbiota and Permeability Homeostasis in Youth with Developmental and Neuropsychiatric Deteriorations

The paper identifies ultrarare genetic variants in intestinal homeostasis genes in youth with neuropsychiatric deteriorations and gastrointestinal symptoms, suggesting a potential link to disease pathogenesis.

Ultrarare Variants in DNA Damage Repair and Mitochondrial Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome and Acute Behavioral Regression in Neurodevelopmental Disorders

The paper identifies ultrarare variants in DNA damage repair and mitochondrial genes in pediatric neuropsychiatric syndromes and neurodevelopmental disorders, linking them to innate immune pathways and gut microbiome homeostasis.

Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders

The paper reports mutations in DNA damage repair genes in patients with acute psychiatric symptoms or regression, suggesting a link between DNA repair defects and inflammatory brain conditions.

Molecular and network disruptions in neurodevelopment uncovered by single cell transcriptomics analysis of CHD8 heterozygous cerebral organoids

This study uses single-cell RNA-seq in cerebral organoids to analyze CHD8 heterozygous mutations, identifying altered gene expression, cell composition, and cell-cell communication linked to autism risk.

Proteomics and phosphoproteomics profiling in glutamatergic neurons and microglia in an iPSC model of Jansen de Vries Syndrome

This study uses proteomics and phosphoproteomics to analyze iPSC-derived neurons and microglia from JdVS patients, identifying molecular changes linked to neurodevelopmental and psychiatric symptoms.

Identification of ultra-rare genetic variants in Pediatric Acute Onset Neuropsychiatric Syndrome (PANS) by exome and whole genome sequencing

This study identifies ultra-rare genetic variants in PANS patients through exome and whole genome sequencing, revealing candidate genes involved in both immune and neuronal pathways.

Characterization of Cell-cell Communication in Autistic Brains with Single Cell Transcriptomes

This study uses single cell RNA-seq data to analyze cell-cell communication differences in autistic brains compared to controls, identifying altered signaling pathways involving neurons and glia.

Enriched expression of genes associated with autism spectrum disorders in human inhibitory neurons

The paper identifies enriched gene expression in inhibitory neurons for autism spectrum disorder (ASD) candidates using single-cell transcriptomic data, supporting the E/I imbalance hypothesis.