Spatio-temporal transcriptome of the human brain

• Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies

  2025 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access

  2

  citations
• Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

  2024 Nature Neuroscience article Medicine Epilepsy research and treatment Open access

  68

  citations
• A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

  2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access

  16

  citations
• Genetic topography and cortical cell loss in Huntington's disease link development and neurodegeneration

  2023 Brain article Neuroscience Genetic Neurodegenerative Diseases Open access

  39

  citations
• Genetic patterning for child psychopathology is distinct from that for adults and implicates fetal cerebellar development

  2023 Nature Neuroscience article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  47

  citations
• Genetic variants associated with longitudinal changes in brain structure across the lifespan

  2022 Nature Neuroscience article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  232

  citations
• The methylome in females with adolescent Conduct Disorder: Neural pathomechanisms and environmental risk factors

  2022 PLoS ONE article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access

  6

  citations
• Genome‐Wide Association Study Identifies Risk Loci for Cluster Headache

  2021 Annals of Neurology article Medicine Migraine and Headache Studies Open access

  74

  citations
• Genetic underpinnings of sociability in the general population

  2021 Neuropsychopharmacology article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  62

  citations
• Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder

  2020 Translational Psychiatry article Neuroscience Autism Spectrum Disorder Research Open access

  28

  citations
• Age-dependent genetic variants associated with longitudinal changes in brain structure across the lifespan

  2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  11

  citations
• Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

  2020 Nature Communications article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access

  39

  citations

12 results