A5056862358- Autism Spectrum Disorder Research
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Genetic Associations and Epidemiology
- Coronary Artery Anomalies
- Nutrition and Health in Aging
- Cardiac Fibrosis and Remodeling
- Protein Tyrosine Phosphatases
- Genomics and Rare Diseases
- Reproductive System and Pregnancy
- CRISPR and Genetic Engineering
- HIV-related health complications and treatments
- Health, Environment, Cognitive Aging
- Epigenetics and DNA Methylation
- Virology and Viral Diseases
- Birth, Development, and Health
- Adipokines, Inflammation, and Metabolic Diseases
- Single-cell and spatial transcriptomics
- Neurofibromatosis and Schwannoma Cases
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- HIV Research and Treatment
- Cellular Mechanics and Interactions
- Receptor Mechanisms and Signaling
- Genomics and Chromatin Dynamics
University of California, San Francisco
2015-2024
Columbia University
2003-2021
Université de Versailles Saint-Quentin-en-Yvelines
2021
Inserm
2021
Centre de recherche en Epidémiologie et Santé des Populations
2021
Université Paris-Saclay
2021
Hôpital Antoine-Béclère
2021
Assistance Publique – Hôpitaux de Paris
2021
New York State Psychiatric Institute
2021
New York Psychoanalytic Society and Institute
2021
Autism spectrum disorder is a heritable developmental in which chromosomal abnormalities are thought to play role.As first component of genomewide association study families from the Genetic Resource Exchange (AGRE), we used two novel algorithms search for recurrent copy-number variations genotype data 751 multiplex with autism. Specific de novo events were further evaluated clinical-testing Children's Hospital Boston and large population Iceland.Among AGRE families, observed five instances...
Abstract New technologies enabling genome-wide interrogation have led to a large and rapidly growing number of autism spectrum disorder (ASD) candidate genes. Although encouraging, the volume complexity these data make it challenging for scientists, particularly non-geneticists, comprehensively evaluate available evidence individual Described here is Gene Scoring module within SFARI 2.0 ( https://gene.sfari.org/autdb/GS_Home.do ), platform developed enable systematic community driven...
Twin and family studies have shown that autism is approximately 90% heritable, in about 10% of patients, the disorder can be explained by genetic syndromes known chromosomal anomalies. The present study an initial component a genome-wide associational analysis families from Autism Genetic Resource Exchange (AGRE). Two novel algorithms were used to search for recurrent copy-number variations genotype data 751 multiplex with autism. Particular de novo events further examined clinical test...
<h3>Background:</h3> Segmental duplications at breakpoints (BP4–BP5) of chromosome 15q13.2q13.3 mediate a recurrent genomic imbalance syndrome associated with mental retardation, epilepsy, and/or electroencephalogram (EEG) abnormalities. <h3>Patients:</h3> DNA samples from 1445 unrelated patients submitted consecutively for clinical array comparative hybridisation (CGH) testing Children’s Hospital Boston and 1441 individuals autism 751 families in the Autism Genetic Resource Exchange (AGRE)...
<h3>Background</h3> Mutations in Ras/mitogen-activated protein kinase (Ras/MAPK) pathway genes lead to a class of disorders known as RASopathies, including neurofibromatosis type 1 (NF1), Noonan syndrome (NS), Costello (CS), and cardio-facio-cutaneous (CFC). Previous work has suggested potential genetic phenotypic overlap between dysregulation Ras/MAPK signalling autism spectrum (ASD). Although the literature offers conflicting evidence for association NF1 autism, there been no systematic...
<h3>Importance</h3> Recent reports have demonstrated a higher incidence of autism spectrum disorder (ASD) and substantially elevated autistic trait burden in individuals with neurofibromatosis type 1 (NF1). However, important discrepancies regarding the distribution traits, sex predominance, association between ASD symptoms attentional problems emerged, critical features phenotype within NF1 never been adequately explored. Establishing as monogenic cause for has implications affected...
The origin of sex differences in prevalence and presentation neuropsychiatric behavioral traits is largely unknown. Given established genetic contributions correlations, we tested for a sex-differentiated architecture within between traits.
Autism spectrum disorder (ASD) is a neurodevelopmental more prevalent in males than females. The cause of ASD largely genetic, but the association genetics with skewed sex ratio not yet understood. To our knowledge, no large population-based study has provided estimates heritability by sex.
Abstract Background Sex differences in the brain may play an important role sex-differential prevalence of neuropsychiatric conditions. Methods In order to understand transcriptional basis sex differences, we analyzed multiple, large-scale, human postmortem RNA-Seq datasets using both within-region and pan-regional frameworks. Results We find evidence sex-biased transcription many autosomal genes, some which provide for pathways cell population between chromosomally male female individuals....
Objective: Body fat redistribution ('lipodystrophy'), with gain in abdominal and trunk fat, decline facial limb is a newly recognized problem patients HIV infection that has been linked to use of HIV-1 protease inhibitors. Increased may predispose these hypertension, diabetes, coronary artery disease. At this time no effective treatment available. We examined whether exercise training could reduce men redistribution. Design: Open-label pilot study. Methods: Ten increasing girth participated...
Background: To assess the efficacy of progressive resistance training (PRT) in increasing strength and lean body mass (LBM) HIV-infected adults. Methods: Twenty-five adults with HIV infection were trained using a highly intensive PRT regimen for 8 weeks, followed by an additional weeks observation under ad libitum physical activity conditions. Results: Twenty-four 25 patients completed first phase study. They had significant increases on all four exercises tested (P<0.0001), increase LBM...
Sexual dimorphism in common disease is pervasive, including a dramatic male preponderance autism spectrum disorders (ASDs). Potential genetic explanations include liability threshold model requiring increased polymorphism risk females, sex-limited X-chromosome contribution, gene-environment interaction driven by differences hormonal milieu, influenced genes sex-differentially expressed early brain development, or contribution from general mechanisms of sexual shared with secondary sex...