probands cohort

Aliases

16 probands, TD probands, autism probands, index participants, male proband, parents, patients seeking treatment for alcoholism, proband variants, probands, study participants

Related entities (33)

Mentioned in (37)

Papers in which this entity is mentioned.

• Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition. (2025)
• Heritable defects in telomere and mitotic function selectively predispose to sarcomas. (2023)
• Genetic nurture effects for alcohol use disorder. (2023)
• Cross-sectional and prospective associations of drinking characteristics with scores from the Self-Report of the Effects of Alcohol questionnaire and findings from alcohol challenges. (2021)
• Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder. (2021)
• Best practices for variant calling in clinical sequencing. (2020)
• A Prospective Comparison of Bipolar I and II Subjects With and Without Comorbid Alcohol Dependence From the COGA Dataset. (2020)
• Interrogating the Genetic Determinants of Tourette's Syndrome and Other Tic Disorders Through Genome-Wide Association Studies. (2019)
• Neuroepigenetics and addiction. (2018)
• Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes. (2018)
• Case-control meta-analysis of blood DNA methylation and autism spectrum disorder. (2018)
• The Impact of Peer Substance Use and Polygenic Risk on Trajectories of Heavy Episodic Drinking Across Adolescence and Emerging Adulthood. (2017)
• De Novo Coding Variants Are Strongly Associated with Tourette Disorder. (2017)
• Fast and accurate long-range phasing in a UK Biobank cohort. (2016)
• Genome-wide association study in obsessive-compulsive disorder: results from the OCGAS. (2015)
• The discovery of integrated gene networks for autism and related disorders. (2015)
• Guidelines for investigating causality of sequence variants in human disease. (2014)
• Clinical whole-exome sequencing for the diagnosis of mendelian disorders. (2013)
• Plasma cytokine profiling in sibling pairs discordant for autism spectrum disorder. (2013)
• ACMG clinical laboratory standards for next-generation sequencing. (2013)
• The genomic landscape of hypodiploid acute lymphoblastic leukemia. (2013)
• Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism. (2012)
• Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. (2011)
• Catechol-o-methyl transferase (COMT) val158met polymorphism and adolescent cortical development in patients with childhood-onset schizophrenia, their non-psychotic siblings, and healthy controls. (2011)
• Psychopathology in offspring from families of alcohol dependent female probands: a prospective study. (2011)
• Functioning of alcohol use disorder criteria among men and women with arrests for driving under the influence of alcohol. (2011)
• An internalizing pathway to alcohol use and disorder. (2011)
• Genome-wide scan for self-rating of the effects of alcohol in American Indians. (2010)
• Association study of 182 candidate genes in anorexia nervosa. (2010)
• The contributions of disease and genetic factors towards regional cortical thinning in schizophrenia: the UCLA family study. (2010)
• Genome-wide association study of bipolar disorder in European American and African American individuals. (2009)
• Association of psychiatric and substance use disorder comorbidity with cocaine dependence severity and treatment utilization in cocaine-dependent individuals. (2009)
• A haplotype containing quantitative trait loci for SLC1A1 gene expression and its association with obsessive-compulsive disorder. (2009)
• Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. (2008)
• Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. (2008)
• Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. (2008)
• Co-occurring risk factors for alcohol dependence and habitual smoking: update on findings from the Collaborative Study on the Genetics of Alcoholism. (2006)

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