Joachim Hallmayer
A5066325334- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genetic Associations and Epidemiology
- Congenital heart defects research
- Stress Responses and Cortisol
- Schizophrenia research and treatment
- Sleep and Wakefulness Research
- Family and Disability Support Research
- Tryptophan and brain disorders
- Bipolar Disorder and Treatment
- Genomics and Rare Diseases
- Alzheimer's disease research and treatments
- Attention Deficit Hyperactivity Disorder
- Child Nutrition and Feeding Issues
- Electroconvulsive Therapy Studies
- Treatment of Major Depression
- Hormonal Regulation and Hypertension
- Child Development and Digital Technology
- Dementia and Cognitive Impairment Research
- Health, Environment, Cognitive Aging
- Suicide and Self-Harm Studies
- Polyamine Metabolism and Applications
- Neuroscience and Neuropharmacology Research
- Virology and Viral Diseases
Stanford University
2016-2025
Mental Illness Research, Education and Clinical Centers
2014-2023
VA Palo Alto Health Care System
2014-2023
Palo Alto Veterans Institute for Research
2019
Neurosciences Institute
2019
Stanford Medicine
1994-2018
California Center for Sleep Disorders
2018
Palo Alto University
2003-2017
American Academy of Child and Adolescent Psychiatry
2016
Institute of Behavioral Sciences
2013
<h3>Context</h3>Autism is considered the most heritable of neurodevelopmental disorders, mainly because large difference in concordance rates between monozygotic and dizygotic twins.<h3>Objective</h3>To provide rigorous quantitative estimates genetic heritability autism effects shared environment.<h3>Design, Setting, Participants</h3>Twin pairs with at least 1 twin an spectrum disorder (ASD) born 1987 2004 were identified through California Department Developmental Services.<h3>Main Outcome...
Background: Autism is considered to have a genetic basis, although exposure certain stimuli in the prenatal period has been implicated be causal some cases.Some investigations shown an association with obstetric complications but findings inconsistent owing differences sampling and methods.Objective: To examine of factors autism spectrum disorders for cohort children, using data contained statutory database collected at time birth.Design: Subjects born Western Australia between 1980 1995...
Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) sensory neuronal deafness, narcolepsy-cataplexy dementia. We performed exome sequencing in five individuals from three ADCA-DN kindreds identified DNMT1 as the only gene with mutations found all affected individuals. Sanger confirmed de novo mutation p.Ala570Val one family, showed co-segregation of p.Val606Phe p.Ala570Val, phenotype, two other kindreds. An additional...
Recent advances in the identification of susceptibility genes and environmental exposures provide broad support for a post-infectious autoimmune basis narcolepsy/hypocretin (orexin) deficiency. We genotyped loci associated with other inflammatory diseases 1,886 individuals hypocretin-deficient narcolepsy 10,421 controls, all European ancestry, using custom genotyping array (ImmunoChip). Three located outside Human Leukocyte Antigen (HLA) region on chromosome 6 were significantly disease...
Significance The neuropeptide oxytocin (OXT) is critically involved in mammalian social functioning, and initial clinical research suggests that OXT biology may be altered individuals with autism spectrum disorder (ASD). Here we provide important evidence blood concentrations are highly heritable within families, yet also strongly predict functioning ASD children, their unaffected siblings, healthy control children. These findings extend to receptor genotypes which significantly associated...
The complexity and heterogeneity of schizophrenia have hindered mechanistic elucidation the development more effective therapies. Here, we performed single-cell dissection schizophrenia-associated transcriptomic changes in human prefrontal cortex across 140 individuals two independent cohorts. Excitatory neurons were most affected cell group, with transcriptional converging on neurodevelopment synapse-related molecular pathways. Transcriptional alterations included known genetic risk...
Nucleotide changes in gene regulatory elements are important determinants of neuronal development and diseases. Using massively parallel reporter assays primary human cells from mid-gestation cortex cerebral organoids, we interrogated the cis-regulatory activity 102,767 open chromatin regions, including thousands sequences with cell type-specific accessibility variants associated brain regulation. In cells, identified 46,802 active enhancer 164 that alter activity. Activity was comparable...
The molecular organization of the human neocortex historically has been studied in context its histological layers. However, emerging spatial transcriptomic technologies have enabled unbiased identification transcriptionally defined domains that move beyond classic cytoarchitecture. We used Visium gene expression platform to generate a data-driven neuroanatomical atlas across anterior-posterior axis dorsolateral prefrontal cortex. Integration with paired single-nucleus RNA-sequencing data...
Neuropsychiatric genome-wide association studies (GWASs), including those for autism spectrum disorder and schizophrenia, show strong enrichment regulatory elements in the developing brain. However, prioritizing risk genes mechanisms is challenging without a unified atlas. Across 672 diverse human brains, we identified 15,752 harboring gene, isoform, and/or splicing quantitative trait loci, mapping 3739 to cellular contexts. Gene expression heritability drops during development, likely...
Given the high level of comorbidity attention deficit hyperactivity disorder (ADHD) and developmental coordination (DCD), deficits in executive function (EF), shown to be present children with ADHD, may also implicated motor DCD. The aim this study was explore relationship between EF ability. A sample 238 children, 121 girls 117 boys, aged 6 15 years recruited for project. Motor ability assessed using McCarron Assessment Neuromuscular Development (MAND), inattention Child Behavior Checklist...
Background: The concept of the ‘broad phenotype’ autism refers to finding that relatives people with often have mild forms autistic‐like characteristics, such as social and communicative difficulties. This study used Autism Spectrum Quotient (AQ), a questionnaire devised assess features broad phenotype in adults, parents autism, see whether they would be more likely obtain extreme scores than control group. Methods: AQ was administered 69 an spectrum disorder 52 controls. Results: On two...