Peter J. van der Spek

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.

Analysis of genetic overlap between inborn errors of immunity and neurodevelopmental disorders

The paper identifies a genetic overlap between inborn errors of immunity and neurodevelopmental disorders, finding that one-third of IEI-causing genes are also linked to NDDs.

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.

Identification of candidate genes for developmental colour agnosia in a single unique family

The paper identifies candidate genes for developmental colour agnosia in a family through exome sequencing and linkage analysis.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.

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.

Detection of fusion transcripts and their genomic breakpoints from RNA sequencing data

Dr. Disco identifies fusion transcripts and genomic breakpoints using non poly(A)-enriched RNA-seq data, revealing transcribed rearrangements and their expression effects in cancer samples.