- See Also
-
Links
- “Common and Rare Variant Associations With Latent Traits Underlying Depression, Bipolar Disorder, and Schizophrenia”, Et Al 2023
- “Quantifying Constraint in Human Mitochondrial DNA”, Et Al 2022
- “Heritability Of De Novo Germline Mutation Reveals a Contribution from Paternal but Not Maternal Genetic Factors”, Et Al 2022
- “Cell Tree Rings: the Shape of Somatic Evolution As a Human Aging Timer”, Et Al 2022
- “Rare and Common Genetic Determinants of Metabolic Individuality and Their Effects on Human Health”, Et Al 2022
- “Declining Autozygosity over Time: an Exploration in over 1 Million Individuals from Three Diverse Cohorts”, Et Al 2022
- “Accurate Detection of Shared Genetic Architecture from GWAS Summary Statistics in the Small-sample Context”, 2022
- “Influences of Rare Protein-coding Genetic Variants on the Human Plasma Proteome in 50,829 UK Biobank Participants”, Et Al 2022
- “Developmental Implications of Genetic Testing for Physical Indications”, Et Al 2022
- “Genome-wide Prediction of Disease Variants With a Deep Protein Language Model”, Et Al 2022
- “Genomic Health Is Dependent on Population Demographic History”, 2022
- “Nationwide Genomic Biobank in Mexico Unravels Demographic History and Complex Trait Architecture from 6,057 Individuals”, Et Al 2022
- “Polygenic Architecture of Rare Coding Variation across 400,000 Exomes”, Et Al 2022
- “Complex Traits and Candidate Genes: Estimation of Genetic Variance Components Across Modes of Inheritance”, Et Al 2022
- “The Impact of Rare Protein Coding Genetic Variation on Adult Cognitive Function”, Et Al 2022
- “Rare Genetic Variants Impact Muscle Strength”, Et Al 2022
- “Genetic Prevalence and Clinical Relevance of Canine Mendelian Disease Variants in over One Million Dogs”, Et Al 2022
- “The Female Protective Effect against Autism Spectrum Disorder”, Et Al 2022
- “Polygenic Risk Score As a Possible Tool for Identifying Familial Monogenic Causes of Complex Diseases”, Et Al 2022
- “The Contributions of Rare Inherited and Polygenic Risk to ASD in Multiplex Families”, Et Al 2022
- “Exome-wide Screening Identifies Novel Rare Risk Variants for Major Depression Disorder”, Et Al 2022
- “Integrating Whole-genome Sequencing With Multi-omic Data Reveals the Impact of Structural Variants on Gene Regulation in the Human Brain”, Et Al 2022
- “Characterization of Arabian Peninsula Whole Exomes: Exploring High Inbreeding Features”, Et Al 2022
- “Genome-wide Analyses of ADHD Identify 27 Risk Loci, Refine the Genetic Architecture and Implicate Several Cognitive Domains”, Et Al 2022
- “Genetic Risk Factors Have a Substantial Impact on Healthy Life Years”, Et Al 2022
- “From Variant to Function in Human Disease Genetics”, Lappalainen & Mac2022
- “Life Histories of Myeloproliferative Neoplasms Inferred from Phylogenies”, Et Al 2022
- “Rare Genetic Variants Correlate With Better Processing Speed”, Et Al 2022
- “Ultra-Rapid Nanopore Genome Sequencing in a Critical Care Setting”, Et Al 2022
- “Rare Schizophrenia Risk Variant Burden Is Conserved in Diverse Human Populations”, Et Al 2022
- “Schizophrenia-associated Somatic Copy Number Variants from 12,834 Cases Reveal Contribution to Risk and Recurrent, Isoform-specific NRXN1 Disruptions”, Et Al 2022
- “High-impact Rare Genetic Variants in Severe Schizophrenia”, Et Al 2021
- “The Origins and Functional Effects of Postzygotic Mutations throughout the Human Lifespan”, Et Al 2021
- “Familial Risk and Heritability of Intellectual Disability: a Population-based Cohort Study in Sweden”, Et Al 2021
- “CONGA: Copy Number Variation Genotyping in Ancient Genomes and Low-coverage Sequencing Data”, Et Al 2021
- “A Spectrum of Recessiveness among Mendelian Disease Variants in UK Biobank”, Et Al 2021
- “Fine-scale Population Structure and Demographic History of British Pakistanis”, Et Al 2021
- “The Effect of Inbreeding, Body Size and Morphology on Health in Dog Breeds”, Et Al 2021
- “Deletion of Loss-of-Function-Intolerant Genes and Risk of 5 Psychiatric Disorders”, Et Al 2021
- “Exploring the Relationships between Autozygosity, Educational Attainment, and Cognitive Ability in a Contemporary, Trans-ancestral American Sample”, Et Al 2021
- “Deep Learning Enables Genetic Analysis of the Human Thoracic Aorta”, Et Al 2021
- “Comparing Copy Number Variations in a Danish Case Cohort of Individuals With Psychiatric Disorders”, Et Al 2021
- “The Sequences of 150,119 Genomes in the UK Biobank”, Et Al 2021
- “The Impact of Rare Germline Variants on Human Somatic Mutation Processes”, Vali- Et Al 2021
- “100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care—Preliminary Report”, 2021
- “Influences of Rare Copy Number Variation on Human Complex Traits”, Et Al 2021
- “Rare Variant Aggregation in 148,508 Exomes Identifies Genes Associated With Proxy Alzheimer’s Disease”, Et Al 2021
- “Integrating De Novo And Inherited Variants in over 42,607 Autism Cases Identifies Mutations in New Moderate Risk Genes”, Et Al 2021
- “How Rare and Common Risk Variation Jointly Affect Liability for Autism Spectrum Disorder”, Et Al 2021
- “A General Framework for Identifying Rare Variant Combinations in Complex Disorders”, 2021
- “Extreme Purifying Selection against Point Mutations in the Human Genome”, Et Al 2021
- “Rates of Contributory De Novo Mutation in High and Low-risk Autism Families”, Et Al 2021
- “Partitioning Gene-level Contributions to Complex-trait Heritability by Allele Frequency Identifies Disease-relevant Genes”, Et Al 2021
- “Differences in the Genetic Architecture of Common and Rare Variants in Childhood, Persistent and Late-diagnosed Attention Deficit Hyperactivity Disorder”, Et Al 2021
- “Genetic Correlates of Phenotypic Heterogeneity in Autism”, Et Al 2021
- “Genomic Partitioning of Inbreeding Depression in Humans”, Et Al 2021
- “Exome Sequencing in Obsessive-compulsive Disorder Reveals a Burden of Rare Damaging Coding Variants”, Et Al 2021
- “Recovery of Trait Heritability from Whole Genome Sequence Data”, Et Al 2021
- “Ultra-rare, Rare, and Common Genetic Variant Analysis Converge to Implicate Negative Selection and Neuronal Processes in the Aetiology of Schizophrenia”, Et Al 2021
- “Lack of Transgenerational Effects of Ionizing Radiation Exposure from the Chernobyl Accident”, Et Al 2021
- “A Phenotypic Spectrum of Autism Is Attributable to the Combined Effects of Rare Variants, Polygenic Risk and Sex”, Et Al 2021
- “Structural Variants in Chinese Population and Their Impact on Phenotypes, Diseases and Population Adaptation”, Et Al 2021
- “Polygenic Burden Has Broader Impact on Health, Cognition, and Socioeconomic Outcomes Than Most Rare and High-risk Copy Number Variants”, Et Al 2021
- “A Cross-disorder Dosage Sensitivity Map of the Human Genome”, Et Al 2021
- “Protein-coding Repeat Polymorphisms Strongly Shape Diverse Human Phenotypes”, Et Al 2021
- “Large Mosaic Copy Number Variations Confer Autism Risk”, Et Al 2021
- “The Landscape of Somatic Mutation in Cerebral Cortex of Autistic and Neurotypical Individuals Revealed by Ultra-deep Whole-genome Sequencing”, Et Al 2021
- “Exome Sequencing and Analysis of 454,787 UK Biobank Participants”, Et Al 2021
- “Long Tracks of Homozygosity Predict the Severity of Alcohol Use Disorders in an American Indian Population”, 2021
- “Long Read Sequencing of 3,622 Icelanders Provides Insight into the Role of Structural Variants in Human Diseases and Other Traits”, Et Al 2020
- “A Broad Exome Study of the Genetic Architecture of Asthma Reveals Novel Patient Subgroups”, Cameron- Et Al 2020
- “Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK Biobank”, Et Al 2020
- “Discovery of Rare Variants Associated With Blood Pressure Regulation through Meta-analysis of 1.3 Million Individuals”, Et Al 2020
- “Exome Sequencing and Characterization of 49,960 Individuals in the UK Biobank”, Et Al 2020
- “Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait”, Et Al 2020
- “Exome Sequencing Identifies Rare Coding Variants in 10 Genes Which Confer Substantial Risk for Schizophrenia”, Et Al 2020
- “Mapping Genomic Loci Prioritises Genes and Implicates Synaptic Biology in Schizophrenia”, Et Al 2020
- “Novel Ultra-Rare Exonic Variants Identified in a Founder Population Implicate Cadherins in Schizophrenia”, Et Al 2020
- “Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome”, Et Al 2020
- “Reconstructing the History of Founder Events Using Genome-wide Patterns of Allele Sharing across Individuals”, Et Al 2020
- “Whole-exome Imputation within UK Biobank Powers Rare Coding Variant Association and Fine-mapping Analyses”, Et Al 2020
- “Exome-wide Association Studies in General and Long-lived Populations Identify Genetic Variants Related to Human Age”, Sin- Et Al 2020
- “Genetic Ancestry Analysis on >93,000 Individuals Undergoing Expanded Carrier Screening Reveals Limitations of Ethnicity-based Medical Guidelines”, Et Al 2020
- “Genomic Analyses Implicate Noncoding De Novo Variants in Congenital Heart Disease”, Et Al 2020
- “An Integrated Polygenic and Clinical Risk Tool Enhances Coronary Artery Disease Prediction”, Et Al 2020
- “The Burden of Rare Protein-truncating Genetic Variants on Human Lifespan”, Et Al 2020
- “Etiology of Autism Spectrum Disorders and Autistic Traits Over Time”, Et Al 2020
- “Estimating the Effect-size of Gene Dosage on Cognitive Ability across the Coding Genome”, Et Al 2020
- “Inbreeding and Inbreeding Depression in Linebred Beef Cattle”, 2020
- “Whole-genome Sequencing of Rare Disease Patients in a National Healthcare System”, Et Al 2020
- “Extended Data Figure 2: GWAS Progress over Time. The Relationship of GWAS Associations to Sample-size Is Shown in This Plot With Selected SCZ GWAS Meta-analyses of the past 11 Years. The X-axis Shows Number of Cases. The Y-axis Shows the Number of Independent Loci Discovered With at Least One Genome-wide Statistically-significant Index SNP in the Discovery Meta-analysis (eg. without Replication Data)…The Slope of ~4 Newly Discovered Loci per 1000 2013–2019 Increased to a Slope of ~6 With the Latest Sample-size Increase.”
- “Figure 6. The Contributions of Ultra-rare PTVs [protein-truncating Variants] to Schizophrenia Risk. A: Genetic Architecture of Schizophrenia. Statistically-significant Genetic Associations for Schizophrenia from the Most Recent GWAS, CNV, and Sequencing Studies Are Displayed. The In-sample Odds Ratio Is Plotted against the Minor Allele Frequency in the General Population. The Color of Each Dot Corresponds to the Source of the Association, and the Size of the Dot to the Odds Ratio. The Shaded Area Represented the LOESS-smoothed Lines of the Upper and Lower Bounds of the Point Estimates…Because Schizophrenia As a Trait Is under Strong Selection^38–40^, We Expect That URVs of Large Effect to Be Frequently De Novo Or of Very Recent Origin and Contribute to Risk in Only a Fraction of Diagnosed Patients.”
- “Rare Genetic Variants Associated With Sudden Cardiac Death in Adults”, Et Al 2019
- “Mutant Neuropeptide S Receptor Reduces Sleep Duration With Preserved Memory Consolidation”, Et Al 2019
- “Germline Burden of Rare Damaging Variants Negatively Affects Human Healthspan and Lifespan”, Et Al 2019
- “Extreme Inbreeding in a European Ancestry Sample from the Contemporary UK Population”, Et Al 2019
- “Insights about Variation in Meiosis from 31,228 Human Sperm Genomes”, Et Al 2019
- “The Family That Feels Almost No Pain: An Italian Clan’s Curious Insensitivity to Pain Has Piqued the Interest of Geneticists Seeking a New Understanding of How to Treat Physical Suffering”, 2019
- “Symposium Review: The Genomic Architecture of Inbreeding: How Homozygosity Affects Health and Performance”, Et Al 2019
- “Crowdfunded Whole-genome Sequencing of the Celebrity Cat Lil BUB Identifies Causal Mutations for Her Osteopetrosis and Polydactyly”, Et Al 2019
- “Microdeletion in A FAAH Pseudogene Identified in a Patient With High Anandamide Concentrations and Pain Insensitivity”, Et Al 2019
- “The Genetic Basis of Inbreeding Depression in Potato”, Et Al 2019
- “Whole-genome Deep-learning Analysis Identifies Contribution of Noncoding Mutations to Autism Risk”, Et Al 2019
- “The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals”, Et Al 2019
- “Phenome-wide Burden of Copy-Number Variation in the UK Biobank”, Et Al 2019
- “A Rare Mutation of Β1-Adrenergic Receptor Affects Sleep/Wake Behaviors”, Et Al 2019
- “Schizophrenia Risk Conferred by Protein-coding De Novo Mutations”, Et Al 2018
- “Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study”, Martin- Et Al 2018
- “Common Genetic Variants Contribute to Risk of Rare Severe Neurodevelopmental Disorders”, Et Al 2018
- “Analysis of the Genetic Basis of Height in Large Jewish Nuclear Families”, Et Al 2018
- “Frequency and Distribution of 152 Genetic Disease Variants in over 100,000 Mixed Breed and Purebred Dogs”, Et Al 2018
- “Relationships between Estimated Autozygosity and Complex Traits in the UK Biobank”, Et Al 2018
- “Secondary Findings from Clinical Genomic Sequencing: Prevalence, Patient Perspectives, Family History Assessment, and Health-care Costs from a Multisite Study”, Et Al 2018
- “1 in 38 Individuals at Risk of a Dominant Medically Actionable Disease”, Haer- Et Al 2018
- “An Analytical Framework for Whole-genome Sequence Association Studies and Its Implications for Autism Spectrum Disorder”, Et Al 2018
- “Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples”, Et Al 2018
- “Medical Consequences of Pathogenic CNVs in Adults: Analysis of the UK Biobank”, Et Al 2018
- “Singleton Variants Dominate the Genetic Architecture of Human Gene Expression”, Et Al 2017
- “CNV-association Meta-analysis in 191,161 European Adults Reveals New Loci Associated With Anthropometric Traits”, Et Al 2017
- “Quantification of Frequency-dependent Genetic Architectures and Action of Negative Selection in 25 UK Biobank Traits”, Et Al 2017
- “A Genome-wide Association Study for Extremely High Intelligence”, Et Al 2017
- “The Surprising Implications of Familial Association in Disease Risk”, Et Al 2017
- “Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum”, Et Al 2017
- “Genomic Analysis of Family Data Reveals Additional Genetic Effects on Intelligence and Personality”, Et Al 2017
- “Prevalence and Architecture Of De Novo Mutations in Developmental Disorders”, Et Al 2017
- “Excess of Genomic Defects in a Woolly Mammoth on Wrangel Island”, 2017
- “Parental Influence on Human Germline De Novo Mutations in 1,548 Trios from Iceland”, Et Al 2017
- “Inequality in Genetic Cancer Risk Suggests Bad Genes rather than Bad Luck”, 2017
- “Polygenic Transmission Disequilibrium Confirms That Common and Rare Variation Act Additively to Create Risk for Autism Spectrum Disorders”, Et Al 2016
- “Trans-ancestry Meta-analyses Identify Rare and Common Variants Associated With Blood Pressure and Hypertension”, Et Al 2016
- “Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples”, Et Al 2016
- “Extreme Distribution of Deleterious Variation in a Historically Small and Isolated Population—insights from the Greenlandic Inuit”, Et Al 2016
- “A Prospective Study of Sudden Cardiac Death among Children and Young Adults”, Et Al 2016
- “Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects”, Et Al 2016
- “Family-Specific Variants and the Limits of Human Genetics”, Et Al 2016
- “Complete Genomes Reveal Signatures of Demographic and Genetic Declines in the Woolly Mammoth”, Et Al 2015
- “The Relative Contribution of Common and Rare Genetic Variants to ADHD”, Martin & Al 2015
- “Whole-genome Sequencing of Quartet Families With Autism Spectrum Disorder”
- “Synaptic, Transcriptional and Chromatin Genes Disrupted in Autism”, Et Al 2014
- “Estimating the Inbreeding Depression on Cognitive Behavior: A Population Based Study of Child Cohort”, 2014
- “The Contribution Of De Novo Coding Mutations to Autism Spectrum Disorder”, Et Al 2014
- “Large-scale Genomics Unveils the Genetic Architecture of Psychiatric Disorders”, Et Al 2014
- “A Novel BHLHE41 Variant Is Associated With Short Sleep and Resistance to Sleep Deprivation in Humans”, Et Al 2014
- “The Effect of Paternal Age on Offspring Intelligence and Personality When Controlling for Paternal Trait Level”, Et Al 2013
- “The Incidence of Leukemia, Lymphoma and Multiple Myeloma among Atomic Bomb Survivors: 1950-2001”, Et Al 2013
- “Analysis of 6,515 Exomes Reveals the Recent Origin of Most Human Protein-coding Variants”, Et Al 2013
- “Range of Genetic Mutations Associated With Severe Non-syndromic Sporadic Intellectual Disability: an Exome Sequencing Study”, Et Al 2012
- “Heritability of Performance Deficit Accumulation during Acute Sleep Deprivation in Twins”, Et Al 2012
- “CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics”, 2012
- “Common Variants Show Predicted Polygenic Effects on Height in the Tails of the Distribution, Except in Extremely Short Individuals”, Et Al 2011
- “Rare Copy Number Deletions Predict Individual Variation in Intelligence”, Et Al 2010
- “Population-based Carrier Screening for Cystic Fibrosis in Victoria: The First 3 Years Experience”, Et Al 2009
- “An Expressed Fgf4 Retrogene Is Associated With Breed-defining Chondrodysplasia in Domestic Dogs.”, Et Al 2009
- “The Transcriptional Repressor DEC2 Regulates Sleep Length in Mammals”, Et Al 2009
- “The VNTR 2 Repeat in MAOA and Delinquent Behavior in Adolescence and Young Adulthood: Associations and MAOA Promoter Activity”, Et Al 2008
- “Language and Communicative Development in Williams Syndrome”, 2007
- “Genetic Enhancement of Cognition in a Kindred With Cone-rod Dystrophy due to RIMS1 Mutation”, Et Al 2007
- “Self-management of Fatal Familial Insomnia. Part 2: Case Report”, 2006
- “Influence of Five Years of Antenatal Screening on the Paediatric Cystic Fibrosis Population in One Region”, 1998
- “When Kim Goodsell Discovered That She Had Two Extremely Rare Genetic Diseases, She Taught Herself Genetics to Help Find out Why.”
- “Natural History of Ashkenazi Intelligence”
- “The Sports Gene: Inside the Science of Extraordinary Athletic Performance”
- “Fathers Bequeath More Mutations As They Age: Genome Study May Explain Links between Paternal Age and Conditions such as Autism”
- “Monkeys Genetically Modified to Show Autism Symptoms: But It Is Unclear How Well the Results Match the Condition in Humans”
- “A Genome-wide Analysis of Putative Functional and Exonic Variation Associated With Extremely High Intelligence”
- “A Gene That Makes You Need Less Sleep?”
- “What’s Behind Many Mystery Ailments? Genetic Mutations, Study Finds”
- “Thinking Positively: The Genetics of High Intelligence”
- “Why Do Humans Still Have a Gene That Increases the Risk of Alzheimer’s?”
- Wikipedia
- Miscellaneous
- Link Bibliography
See Also
Links
“Common and Rare Variant Associations With Latent Traits Underlying Depression, Bipolar Disorder, and Schizophrenia”, Et Al 2023
“Common and rare variant associations with latent traits underlying depression, bipolar disorder, and schizophrenia”, 2023-02-06 (; similar)
“Quantifying Constraint in Human Mitochondrial DNA”, Et Al 2022
“Quantifying constraint in human mitochondrial DNA”, 2022-12-19 (similar)
“Heritability Of De Novo Germline Mutation Reveals a Contribution from Paternal but Not Maternal Genetic Factors”, Et Al 2022
“Heritability of de novo germline mutation reveals a contribution from paternal but not maternal genetic factors”, 2022-12-17 (similar)
“Cell Tree Rings: the Shape of Somatic Evolution As a Human Aging Timer”, Et Al 2022
“Cell Tree Rings: the shape of somatic evolution as a human aging timer”, 2022-12-16 (; similar)
“Rare and Common Genetic Determinants of Metabolic Individuality and Their Effects on Human Health”, Et Al 2022
“Rare and common genetic determinants of metabolic individuality and their effects on human health”, 2022-11-10 (similar; bibliography)
“Declining Autozygosity over Time: an Exploration in over 1 Million Individuals from Three Diverse Cohorts”, Et Al 2022
“Declining autozygosity over time: an exploration in over 1 million individuals from three diverse cohorts”, 2022-10-17 (similar)
“Accurate Detection of Shared Genetic Architecture from GWAS Summary Statistics in the Small-sample Context”, 2022
“Accurate detection of shared genetic architecture from GWAS summary statistics in the small-sample context”, 2022-10-17 (; similar)
“Influences of Rare Protein-coding Genetic Variants on the Human Plasma Proteome in 50,829 UK Biobank Participants”, Et Al 2022
“Influences of rare protein-coding genetic variants on the human plasma proteome in 50,829 UK Biobank participants”, 2022-10-11 (similar)
“Developmental Implications of Genetic Testing for Physical Indications”, Et Al 2022
“Developmental implications of genetic testing for physical indications”, 2022-09-06 (; similar)
“Genome-wide Prediction of Disease Variants With a Deep Protein Language Model”, Et Al 2022
“Genome-wide prediction of disease variants with a deep protein language model”, 2022-08-26 (; similar)
“Genomic Health Is Dependent on Population Demographic History”, 2022
“Genomic health is dependent on population demographic history”, 2022-08-16 (; similar)
“Nationwide Genomic Biobank in Mexico Unravels Demographic History and Complex Trait Architecture from 6,057 Individuals”, Et Al 2022
“Nationwide genomic biobank in Mexico unravels demographic history and complex trait architecture from 6,057 individuals”, 2022-07-14 (similar)
“Polygenic Architecture of Rare Coding Variation across 400,000 Exomes”, Et Al 2022
“Polygenic architecture of rare coding variation across 400,000 exomes”, 2022-07-07 (; similar)
“Complex Traits and Candidate Genes: Estimation of Genetic Variance Components Across Modes of Inheritance”, Et Al 2022
“Complex Traits and Candidate Genes: Estimation of Genetic Variance Components Across Modes of Inheritance”, 2022-07-05 (similar)
“The Impact of Rare Protein Coding Genetic Variation on Adult Cognitive Function”, Et Al 2022
“The impact of rare protein coding genetic variation on adult cognitive function”, 2022-06-26 (; similar)
“Rare Genetic Variants Impact Muscle Strength”, Et Al 2022
“Rare genetic variants impact muscle strength”, 2022-06-23 (similar)
“Genetic Prevalence and Clinical Relevance of Canine Mendelian Disease Variants in over One Million Dogs”, Et Al 2022
“Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs”, 2022-06-14 (; similar)
“The Female Protective Effect against Autism Spectrum Disorder”, Et Al 2022
“The female protective effect against autism spectrum disorder”, 2022-06-08 (; similar)
“Polygenic Risk Score As a Possible Tool for Identifying Familial Monogenic Causes of Complex Diseases”, Et Al 2022
“Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases”, 2022-04-23 (; similar)
“The Contributions of Rare Inherited and Polygenic Risk to ASD in Multiplex Families”, Et Al 2022
“The Contributions of Rare Inherited and Polygenic Risk to ASD in Multiplex Families”, 2022-04-16 (; similar)
“Exome-wide Screening Identifies Novel Rare Risk Variants for Major Depression Disorder”, Et Al 2022
“Exome-wide screening identifies novel rare risk variants for major depression disorder”, 2022-04 (; similar; bibliography)
“Integrating Whole-genome Sequencing With Multi-omic Data Reveals the Impact of Structural Variants on Gene Regulation in the Human Brain”, Et Al 2022
“Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain”, 2022-03-13 (; similar)
“Characterization of Arabian Peninsula Whole Exomes: Exploring High Inbreeding Features”, Et Al 2022
“Characterization of Arabian Peninsula whole exomes: exploring high inbreeding features”, 2022-02-22 (similar)
“Genome-wide Analyses of ADHD Identify 27 Risk Loci, Refine the Genetic Architecture and Implicate Several Cognitive Domains”, Et Al 2022
“Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains”, 2022-02-16 (; backlinks; similar)
“Genetic Risk Factors Have a Substantial Impact on Healthy Life Years”, Et Al 2022
“Genetic risk factors have a substantial impact on healthy life years”, 2022-01-28 (; similar)
“From Variant to Function in Human Disease Genetics”, Lappalainen & Mac2022
“From variant to function in human disease genetics”, 2022-01-21 (similar)
“Life Histories of Myeloproliferative Neoplasms Inferred from Phylogenies”, Et Al 2022
“Life histories of myeloproliferative neoplasms inferred from phylogenies”, 2022-01-20 (similar; bibliography)
“Rare Genetic Variants Correlate With Better Processing Speed”, Et Al 2022
“Rare Genetic Variants Correlate with Better Processing Speed”, 2022-01-12 (; similar)
“Ultra-Rapid Nanopore Genome Sequencing in a Critical Care Setting”, Et Al 2022
“Ultra-Rapid Nanopore Genome Sequencing in a Critical Care Setting”, 2022-01-12 (; similar; bibliography)
“Rare Schizophrenia Risk Variant Burden Is Conserved in Diverse Human Populations”, Et Al 2022
“Rare schizophrenia risk variant burden is conserved in diverse human populations”, 2022-01-03 (; similar)
“Schizophrenia-associated Somatic Copy Number Variants from 12,834 Cases Reveal Contribution to Risk and Recurrent, Isoform-specific NRXN1 Disruptions”, Et Al 2022
“Schizophrenia-associated somatic copy number variants from 12,834 cases reveal contribution to risk and recurrent, isoform-specific NRXN1 disruptions”, 2022 (similar)
“High-impact Rare Genetic Variants in Severe Schizophrenia”, Et Al 2021
“High-impact rare genetic variants in severe schizophrenia”, 2021-12-21 (; similar)
“The Origins and Functional Effects of Postzygotic Mutations throughout the Human Lifespan”, Et Al 2021
“The origins and functional effects of postzygotic mutations throughout the human lifespan”, 2021-12-21 (similar)
“Familial Risk and Heritability of Intellectual Disability: a Population-based Cohort Study in Sweden”, Et Al 2021
“Familial risk and heritability of intellectual disability: a population-based cohort study in Sweden”, 2021-12-18 (; similar)
“CONGA: Copy Number Variation Genotyping in Ancient Genomes and Low-coverage Sequencing Data”, Et Al 2021
“CONGA: Copy number variation genotyping in ancient genomes and low-coverage sequencing data”, 2021-12-17 (similar)
“A Spectrum of Recessiveness among Mendelian Disease Variants in UK Biobank”, Et Al 2021
“A spectrum of recessiveness among Mendelian disease variants in UK Biobank”, 2021-12-14 (similar)
“Fine-scale Population Structure and Demographic History of British Pakistanis”, Et Al 2021
“Fine-scale population structure and demographic history of British Pakistanis”, 2021-12-10 (similar)
“The Effect of Inbreeding, Body Size and Morphology on Health in Dog Breeds”, Et Al 2021
“The effect of inbreeding, body size and morphology on health in dog breeds”, 2021-12-02 (; similar)
“Deletion of Loss-of-Function-Intolerant Genes and Risk of 5 Psychiatric Disorders”, Et Al 2021
“Deletion of Loss-of-Function-Intolerant Genes and Risk of 5 Psychiatric Disorders”, 2021-12-01 (; similar)
“Exploring the Relationships between Autozygosity, Educational Attainment, and Cognitive Ability in a Contemporary, Trans-ancestral American Sample”, Et Al 2021
“Exploring the relationships between autozygosity, educational attainment, and cognitive ability in a contemporary, trans-ancestral American sample”, 2021-11-29 (; similar)
“Deep Learning Enables Genetic Analysis of the Human Thoracic Aorta”, Et Al 2021
“Deep learning enables genetic analysis of the human thoracic aorta”, 2021-11-26 (; similar)
“Comparing Copy Number Variations in a Danish Case Cohort of Individuals With Psychiatric Disorders”, Et Al 2021
“Comparing Copy Number Variations in a Danish Case Cohort of Individuals With Psychiatric Disorders”, 2021-11-24 (; similar)
“The Sequences of 150,119 Genomes in the UK Biobank”, Et Al 2021
“The sequences of 150,119 genomes in the UK biobank”, 2021-11-17 (; similar)
“The Impact of Rare Germline Variants on Human Somatic Mutation Processes”, Vali- Et Al 2021
“The impact of rare germline variants on human somatic mutation processes”, 2021-11-14 (similar)
“100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care—Preliminary Report”, 2021
“100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care—Preliminary Report”, 2021-11-11 (; similar)
“Influences of Rare Copy Number Variation on Human Complex Traits”, Et Al 2021
“Influences of rare copy number variation on human complex traits”, 2021-10-21 (similar)
“Rare Variant Aggregation in 148,508 Exomes Identifies Genes Associated With Proxy Alzheimer’s Disease”, Et Al 2021
“Rare Variant Aggregation in 148,508 Exomes Identifies Genes Associated with Proxy Alzheimer’s Disease”, 2021-10-18 (; similar)
“Integrating De Novo And Inherited Variants in over 42,607 Autism Cases Identifies Mutations in New Moderate Risk Genes”, Et Al 2021
“Integrating de novo and inherited variants in over 42,607 autism cases identifies mutations in new moderate risk genes”, 2021-10-11 (; similar)
“How Rare and Common Risk Variation Jointly Affect Liability for Autism Spectrum Disorder”, Et Al 2021
“How rare and common risk variation jointly affect liability for autism spectrum disorder”, 2021-10-06 (; similar)
“A General Framework for Identifying Rare Variant Combinations in Complex Disorders”, 2021
“A general framework for identifying rare variant combinations in complex disorders”, 2021-10-01 (; similar)
“Extreme Purifying Selection against Point Mutations in the Human Genome”, Et Al 2021
“Extreme purifying selection against point mutations in the human genome”, 2021-09-04 (; similar)
“Rates of Contributory De Novo Mutation in High and Low-risk Autism Families”, Et Al 2021
“Rates of contributory de novo mutation in high and low-risk autism families”, 2021-09-01 (; similar)
“Partitioning Gene-level Contributions to Complex-trait Heritability by Allele Frequency Identifies Disease-relevant Genes”, Et Al 2021
“Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes”, 2021-08-18 (similar)
“Differences in the Genetic Architecture of Common and Rare Variants in Childhood, Persistent and Late-diagnosed Attention Deficit Hyperactivity Disorder”, Et Al 2021
“Differences in the genetic architecture of common and rare variants in childhood, persistent and late-diagnosed attention deficit hyperactivity disorder”, 2021-08-08 (; similar)
“Genetic Correlates of Phenotypic Heterogeneity in Autism”, Et Al 2021
“Genetic correlates of phenotypic heterogeneity in autism”, 2021-08-05 (; similar)
“Genomic Partitioning of Inbreeding Depression in Humans”, Et Al 2021
“Genomic partitioning of inbreeding depression in humans”, 2021-07-01 (similar)
“Exome Sequencing in Obsessive-compulsive Disorder Reveals a Burden of Rare Damaging Coding Variants”, Et Al 2021
“Exome sequencing in obsessive-compulsive disorder reveals a burden of rare damaging coding variants”, 2021-06-28 (; similar)
“Recovery of Trait Heritability from Whole Genome Sequence Data”, Et Al 2021
“Recovery of trait heritability from whole genome sequence data”, 2021-06-11 (backlinks; similar)
“Ultra-rare, Rare, and Common Genetic Variant Analysis Converge to Implicate Negative Selection and Neuronal Processes in the Aetiology of Schizophrenia”, Et Al 2021
“Ultra-rare, rare, and common genetic variant analysis converge to implicate negative selection and neuronal processes in the aetiology of schizophrenia”, 2021-05-29 (; similar)
“Lack of Transgenerational Effects of Ionizing Radiation Exposure from the Chernobyl Accident”, Et Al 2021
“Lack of transgenerational effects of ionizing radiation exposure from the Chernobyl accident”, 2021-04-22 (similar)
“A Phenotypic Spectrum of Autism Is Attributable to the Combined Effects of Rare Variants, Polygenic Risk and Sex”, Et Al 2021
“A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex”, 2021-04-04 (; similar)
“Structural Variants in Chinese Population and Their Impact on Phenotypes, Diseases and Population Adaptation”, Et Al 2021
“Structural variants in Chinese population and their impact on phenotypes, diseases and population adaptation”, 2021-02-10 (similar)
“Polygenic Burden Has Broader Impact on Health, Cognition, and Socioeconomic Outcomes Than Most Rare and High-risk Copy Number Variants”, Et Al 2021
“Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants”, 2021-02-01 (; similar)
“A Cross-disorder Dosage Sensitivity Map of the Human Genome”, Et Al 2021
“A cross-disorder dosage sensitivity map of the human genome”, 2021-01-28 (; similar)
“Protein-coding Repeat Polymorphisms Strongly Shape Diverse Human Phenotypes”, Et Al 2021
“Protein-coding repeat polymorphisms strongly shape diverse human phenotypes”, 2021-01-20 (similar)
“Large Mosaic Copy Number Variations Confer Autism Risk”, Et Al 2021
“Large mosaic copy number variations confer autism risk”, 2021-01-11 (; similar)
“The Landscape of Somatic Mutation in Cerebral Cortex of Autistic and Neurotypical Individuals Revealed by Ultra-deep Whole-genome Sequencing”, Et Al 2021
“The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing”, 2021-01-11 (; similar)
“Exome Sequencing and Analysis of 454,787 UK Biobank Participants”, Et Al 2021
“Exome sequencing and analysis of 454,787 UK Biobank participants”, 2021 (similar)
“Long Tracks of Homozygosity Predict the Severity of Alcohol Use Disorders in an American Indian Population”, 2021
“Long Read Sequencing of 3,622 Icelanders Provides Insight into the Role of Structural Variants in Human Diseases and Other Traits”, Et Al 2020
“Long read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits”, 2020-12-14 (; similar)
“A Broad Exome Study of the Genetic Architecture of Asthma Reveals Novel Patient Subgroups”, Cameron- Et Al 2020
“A broad exome study of the genetic architecture of asthma reveals novel patient subgroups”, 2020-12-11 (similar)
“Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK Biobank”, Et Al 2020
“Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK Biobank”, 2020-11-29 (; similar)
“Discovery of Rare Variants Associated With Blood Pressure Regulation through Meta-analysis of 1.3 Million Individuals”, Et Al 2020
“Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals”, 2020-11-23 (; similar)
“Exome Sequencing and Characterization of 49,960 Individuals in the UK Biobank”, Et Al 2020
“Exome sequencing and characterization of 49,960 individuals in the UK Biobank”, 2020-10-21 (; similar)
“Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait”, Et Al 2020
“Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait”, 2020-10-15 (; similar)
“Exome Sequencing Identifies Rare Coding Variants in 10 Genes Which Confer Substantial Risk for Schizophrenia”, Et Al 2020
“Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia”, 2020-09-18 (; similar)
“Mapping Genomic Loci Prioritises Genes and Implicates Synaptic Biology in Schizophrenia”, Et Al 2020
“Mapping genomic loci prioritises genes and implicates synaptic biology in schizophrenia”, 2020-09-13 (; backlinks; similar)
“Novel Ultra-Rare Exonic Variants Identified in a Founder Population Implicate Cadherins in Schizophrenia”, Et Al 2020
“Novel Ultra-Rare Exonic Variants Identified in a Founder Population Implicate Cadherins in Schizophrenia”, 2020-09-11 (; similar)
“Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome”, Et Al 2020
“Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome”, 2020-09-11 (; similar)
“Reconstructing the History of Founder Events Using Genome-wide Patterns of Allele Sharing across Individuals”, Et Al 2020
“Reconstructing the history of founder events using genome-wide patterns of allele sharing across individuals”, 2020-09-07 (; similar)
“Whole-exome Imputation within UK Biobank Powers Rare Coding Variant Association and Fine-mapping Analyses”, Et Al 2020
“Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses”, 2020-09-01 (; similar)
“Exome-wide Association Studies in General and Long-lived Populations Identify Genetic Variants Related to Human Age”, Sin- Et Al 2020
“Exome-wide association studies in general and long-lived populations identify genetic variants related to human age”, 2020-07-19 (; similar)
“Genetic Ancestry Analysis on >93,000 Individuals Undergoing Expanded Carrier Screening Reveals Limitations of Ethnicity-based Medical Guidelines”, Et Al 2020
“Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines”, 2020-06-29 (; similar)
“Genomic Analyses Implicate Noncoding De Novo Variants in Congenital Heart Disease”, Et Al 2020
“Genomic analyses implicate noncoding de novo variants in congenital heart disease”, 2020-06-29 (; similar)
“An Integrated Polygenic and Clinical Risk Tool Enhances Coronary Artery Disease Prediction”, Et Al 2020
“An integrated polygenic and clinical risk tool enhances coronary artery disease prediction”, 2020-06-03 (; backlinks; similar)
“The Burden of Rare Protein-truncating Genetic Variants on Human Lifespan”, Et Al 2020
“The burden of rare protein-truncating genetic variants on human lifespan”, 2020-06-03 (; similar)
“Etiology of Autism Spectrum Disorders and Autistic Traits Over Time”, Et Al 2020
“Etiology of Autism Spectrum Disorders and Autistic Traits Over Time”, 2020-05-06 (; similar)
“Estimating the Effect-size of Gene Dosage on Cognitive Ability across the Coding Genome”, Et Al 2020
“Estimating the effect-size of gene dosage on cognitive ability across the coding genome”, 2020-04-05 (; similar)
“Inbreeding and Inbreeding Depression in Linebred Beef Cattle”, 2020
“Inbreeding and Inbreeding Depression in Linebred Beef Cattle”, 2020-04 (; similar)
“Whole-genome Sequencing of Rare Disease Patients in a National Healthcare System”, Et Al 2020
“Whole-genome sequencing of rare disease patients in a national healthcare system”, 2020-02-18 (; similar)
“Extended Data Figure 2: GWAS Progress over Time. The Relationship of GWAS Associations to Sample-size Is Shown in This Plot With Selected SCZ GWAS Meta-analyses of the past 11 Years. The X-axis Shows Number of Cases. The Y-axis Shows the Number of Independent Loci Discovered With at Least One Genome-wide Statistically-significant Index SNP in the Discovery Meta-analysis (eg. without Replication Data)…The Slope of ~4 Newly Discovered Loci per 1000 2013–2019 Increased to a Slope of ~6 With the Latest Sample-size Increase.”
“Figure 6. The Contributions of Ultra-rare PTVs [protein-truncating Variants] to Schizophrenia Risk. A: Genetic Architecture of Schizophrenia. Statistically-significant Genetic Associations for Schizophrenia from the Most Recent GWAS, CNV, and Sequencing Studies Are Displayed. The In-sample Odds Ratio Is Plotted against the Minor Allele Frequency in the General Population. The Color of Each Dot Corresponds to the Source of the Association, and the Size of the Dot to the Odds Ratio. The Shaded Area Represented the LOESS-smoothed Lines of the Upper and Lower Bounds of the Point Estimates…Because Schizophrenia As a Trait Is under Strong Selection^38–40^, We Expect That URVs of Large Effect to Be Frequently De Novo Or of Very Recent Origin and Contribute to Risk in Only a Fraction of Diagnosed Patients.”
![“Figure 6. The contributions of ultra-rare PTVs [protein-truncating variants] to schizophrenia risk. A: Genetic architecture of schizophrenia. Statistically-significant genetic associations for schizophrenia from the most recent GWAS, CNV, and sequencing studies are displayed. The in-sample odds ratio is plotted against the minor allele frequency in the general population. The color of each dot corresponds to the source of the association, and the size of the dot to the odds ratio. The shaded area represented the LOESS-smoothed lines of the upper and lower bounds of the point estimates...Because schizophrenia as a trait is under strong selection^38–40^, we expect that URVs of large effect to be frequently de novo or of very recent origin and contribute to risk in only a fraction of diagnosed patients.”](/doc/genetics/heritable/rare/2020-singh-figure6a-thecontributionsofultrarareptvstoschizophreniarisk.png){kind=link}
“Rare Genetic Variants Associated With Sudden Cardiac Death in Adults”, Et Al 2019
“Rare Genetic Variants Associated With Sudden Cardiac Death in Adults”, 2019-11-18 (similar)
“Mutant Neuropeptide S Receptor Reduces Sleep Duration With Preserved Memory Consolidation”, Et Al 2019
“Mutant neuropeptide S receptor reduces sleep duration with preserved memory consolidation”, 2019-10-16 (; similar)
“Germline Burden of Rare Damaging Variants Negatively Affects Human Healthspan and Lifespan”, Et Al 2019
“Germline burden of rare damaging variants negatively affects human healthspan and lifespan”, 2019-10-13 (similar)
“Extreme Inbreeding in a European Ancestry Sample from the Contemporary UK Population”, Et Al 2019
“Extreme inbreeding in a European ancestry sample from the contemporary UK population”, 2019-09-03 (similar)
“Insights about Variation in Meiosis from 31,228 Human Sperm Genomes”, Et Al 2019
“Insights about variation in meiosis from 31,228 human sperm genomes”, 2019-05-02 (backlinks; similar)
“The Family That Feels Almost No Pain: An Italian Clan’s Curious Insensitivity to Pain Has Piqued the Interest of Geneticists Seeking a New Understanding of How to Treat Physical Suffering”, 2019
“The Family That Feels Almost No Pain: An Italian clan’s curious insensitivity to pain has piqued the interest of geneticists seeking a new understanding of how to treat physical suffering”, 2019-05 (; backlinks; similar)
“Symposium Review: The Genomic Architecture of Inbreeding: How Homozygosity Affects Health and Performance”, Et Al 2019
“Symposium review: The genomic architecture of inbreeding: How homozygosity affects health and performance”, 2019-03 (; similar)
“Crowdfunded Whole-genome Sequencing of the Celebrity Cat Lil BUB Identifies Causal Mutations for Her Osteopetrosis and Polydactyly”, Et Al 2019
“Crowdfunded whole-genome sequencing of the celebrity cat Lil BUB identifies causal mutations for her osteopetrosis and polydactyly”, 2019-02-22 (; backlinks; similar)
“Microdeletion in A FAAH Pseudogene Identified in a Patient With High Anandamide Concentrations and Pain Insensitivity”, Et Al 2019
“Microdeletion in a FAAH pseudogene identified in a patient with high anandamide concentrations and pain insensitivity”, 2019-02-22 (; backlinks; similar)
“The Genetic Basis of Inbreeding Depression in Potato”, Et Al 2019
“Whole-genome Deep-learning Analysis Identifies Contribution of Noncoding Mutations to Autism Risk”, Et Al 2019
“The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals”, Et Al 2019
“The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals”, 2019 (; similar)
“Phenome-wide Burden of Copy-Number Variation in the UK Biobank”, Et Al 2019
“Phenome-wide Burden of Copy-Number Variation in the UK Biobank”, 2019 (similar)
“A Rare Mutation of Β1-Adrenergic Receptor Affects Sleep/Wake Behaviors”, Et Al 2019
“A Rare Mutation of β1-Adrenergic Receptor Affects Sleep/Wake Behaviors”, 2019 (; similar)
“Schizophrenia Risk Conferred by Protein-coding De Novo Mutations”, Et Al 2018
“Schizophrenia risk conferred by protein-coding de novo mutations”, 2018-12-13 (; similar)
“Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study”, Martin- Et Al 2018
“Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study”, 2018-08-15 (; similar)
“Common Genetic Variants Contribute to Risk of Rare Severe Neurodevelopmental Disorders”, Et Al 2018
“Common genetic variants contribute to risk of rare severe neurodevelopmental disorders”, 2018-05-04 (; similar)
“Analysis of the Genetic Basis of Height in Large Jewish Nuclear Families”, Et Al 2018
“Analysis of the genetic basis of height in large Jewish nuclear families”, 2018-04-17 (similar)
“Frequency and Distribution of 152 Genetic Disease Variants in over 100,000 Mixed Breed and Purebred Dogs”, Et Al 2018
“Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs”, 2018-04-11 (; backlinks; similar)
“Relationships between Estimated Autozygosity and Complex Traits in the UK Biobank”, Et Al 2018
“Relationships between estimated autozygosity and complex traits in the UK Biobank”, 2018-03-29 (similar)
“Secondary Findings from Clinical Genomic Sequencing: Prevalence, Patient Perspectives, Family History Assessment, and Health-care Costs from a Multisite Study”, Et Al 2018
“1 in 38 Individuals at Risk of a Dominant Medically Actionable Disease”, Haer- Et Al 2018
“An Analytical Framework for Whole-genome Sequence Association Studies and Its Implications for Autism Spectrum Disorder”, Et Al 2018
“Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples”, Et Al 2018
“Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples”, 2018 (; similar)
“Medical Consequences of Pathogenic CNVs in Adults: Analysis of the UK Biobank”, Et Al 2018
“Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank”, 2018 (similar)
“Singleton Variants Dominate the Genetic Architecture of Human Gene Expression”, Et Al 2017
“Singleton Variants Dominate the Genetic Architecture of Human Gene Expression”, 2017-11-14 (similar)
“CNV-association Meta-analysis in 191,161 European Adults Reveals New Loci Associated With Anthropometric Traits”, Et Al 2017
“CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits”, 2017-09-29 (backlinks; similar)
“Quantification of Frequency-dependent Genetic Architectures and Action of Negative Selection in 25 UK Biobank Traits”, Et Al 2017
“Quantification of frequency-dependent genetic architectures and action of negative selection in 25 UK Biobank traits”, 2017-09-13 (; backlinks; similar)
“A Genome-wide Association Study for Extremely High Intelligence”, Et Al 2017
“A genome-wide association study for extremely high intelligence”, 2017-07-04 (; backlinks; similar)
“The Surprising Implications of Familial Association in Disease Risk”, Et Al 2017
“The surprising implications of familial association in disease risk”, 2017-06-14 (; backlinks; similar)
“Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum”, Et Al 2017
“Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum”, 2017-06-09 (; similar)
“Genomic Analysis of Family Data Reveals Additional Genetic Effects on Intelligence and Personality”, Et Al 2017
“Genomic analysis of family data reveals additional genetic effects on intelligence and personality”, 2017-02-06 (; backlinks; similar)
“Prevalence and Architecture Of De Novo Mutations in Developmental Disorders”, Et Al 2017
“Prevalence and architecture of de novo mutations in developmental disorders”, 2017-01-25 (backlinks; similar)
“Excess of Genomic Defects in a Woolly Mammoth on Wrangel Island”, 2017
“Excess of genomic defects in a woolly mammoth on Wrangel island”, 2017-01-24 (; similar)
“Parental Influence on Human Germline De Novo Mutations in 1,548 Trios from Iceland”, Et Al 2017
“Inequality in Genetic Cancer Risk Suggests Bad Genes rather than Bad Luck”, 2017
“Inequality in genetic cancer risk suggests bad genes rather than bad luck”, 2017 (; similar)
“Polygenic Transmission Disequilibrium Confirms That Common and Rare Variation Act Additively to Create Risk for Autism Spectrum Disorders”, Et Al 2016
“Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders”, 2016-11-23 (; similar)
“Trans-ancestry Meta-analyses Identify Rare and Common Variants Associated With Blood Pressure and Hypertension”, Et Al 2016
“Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension”, 2016-09-12 (similar)
“Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples”, Et Al 2016
“Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples”, 2016-08-14 (; backlinks; similar)
“Extreme Distribution of Deleterious Variation in a Historically Small and Isolated Population—insights from the Greenlandic Inuit”, Et Al 2016
“Extreme distribution of deleterious variation in a historically small and isolated population—insights from the Greenlandic Inuit”, 2016-06-30 (similar)
“A Prospective Study of Sudden Cardiac Death among Children and Young Adults”, Et Al 2016
“A Prospective Study of Sudden Cardiac Death among Children and Young Adults”, 2016-06-23 (similar)
“Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects”, Et Al 2016
“Family-Specific Variants and the Limits of Human Genetics”, Et Al 2016
“Family-Specific Variants and the Limits of Human Genetics”, 2016 (similar)
“Complete Genomes Reveal Signatures of Demographic and Genetic Declines in the Woolly Mammoth”, Et Al 2015
“Complete genomes reveal signatures of demographic and genetic declines in the woolly mammoth”, 2015 (; backlinks; similar)
“The Relative Contribution of Common and Rare Genetic Variants to ADHD”, Martin & Al 2015
“Whole-genome Sequencing of Quartet Families With Autism Spectrum Disorder”
“Synaptic, Transcriptional and Chromatin Genes Disrupted in Autism”, Et Al 2014
“Synaptic, transcriptional and chromatin genes disrupted in autism”, 2014-10-29 (; backlinks; similar)
“Estimating the Inbreeding Depression on Cognitive Behavior: A Population Based Study of Child Cohort”, 2014
“Estimating the Inbreeding Depression on Cognitive Behavior: A Population Based Study of Child Cohort”, 2014-10-14 (; similar)
“The Contribution Of De Novo Coding Mutations to Autism Spectrum Disorder”, Et Al 2014
“The contribution of de novo coding mutations to autism spectrum disorder”, 2014 (; backlinks; similar)
“Large-scale Genomics Unveils the Genetic Architecture of Psychiatric Disorders”, Et Al 2014
“Large-scale genomics unveils the genetic architecture of psychiatric disorders”, 2014 (; similar)
“A Novel BHLHE41 Variant Is Associated With Short Sleep and Resistance to Sleep Deprivation in Humans”, Et Al 2014
“A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans”, 2014 (; backlinks; similar)
“The Effect of Paternal Age on Offspring Intelligence and Personality When Controlling for Paternal Trait Level”, Et Al 2013
“The effect of paternal age on offspring intelligence and personality when controlling for paternal trait level”, 2013-09-18 (; backlinks; similar)
“The Incidence of Leukemia, Lymphoma and Multiple Myeloma among Atomic Bomb Survivors: 1950-2001”, Et Al 2013
“The incidence of leukemia, lymphoma and multiple myeloma among atomic bomb survivors: 1950-2001”, 2013 (backlinks; similar)
“Analysis of 6,515 Exomes Reveals the Recent Origin of Most Human Protein-coding Variants”, Et Al 2013
“Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants”, 2013 (; backlinks; similar)
“Range of Genetic Mutations Associated With Severe Non-syndromic Sporadic Intellectual Disability: an Exome Sequencing Study”, Et Al 2012
“Heritability of Performance Deficit Accumulation during Acute Sleep Deprivation in Twins”, Et Al 2012
“Heritability of performance deficit accumulation during acute sleep deprivation in twins”, 2012 (; backlinks; similar)
“CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics”, 2012
“CNVs: harbingers of a rare variant revolution in psychiatric genetics”, 2012 (; similar)
“Common Variants Show Predicted Polygenic Effects on Height in the Tails of the Distribution, Except in Extremely Short Individuals”, Et Al 2011
“Common Variants Show Predicted Polygenic Effects on Height in the Tails of the Distribution, Except in Extremely Short Individuals”, 2011-11-13 (backlinks; similar)
“Rare Copy Number Deletions Predict Individual Variation in Intelligence”, Et Al 2010
“Rare Copy Number Deletions Predict Individual Variation in Intelligence”, 2010-12-13 (; backlinks; similar)
“Population-based Carrier Screening for Cystic Fibrosis in Victoria: The First 3 Years Experience”, Et Al 2009
“Population-based carrier screening for cystic fibrosis in Victoria: The first 3 years experience”, 2009-09-24 (; backlinks; similar)
“An Expressed Fgf4 Retrogene Is Associated With Breed-defining Chondrodysplasia in Domestic Dogs.”, Et Al 2009
“An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs.”, 2009-08-21 (; similar)
“The Transcriptional Repressor DEC2 Regulates Sleep Length in Mammals”, Et Al 2009
“The transcriptional repressor DEC2 regulates sleep length in mammals”, 2009 (; backlinks; similar)
“The VNTR 2 Repeat in MAOA and Delinquent Behavior in Adolescence and Young Adulthood: Associations and MAOA Promoter Activity”, Et Al 2008
“The VNTR 2 repeat in MAOA and delinquent behavior in adolescence and young adulthood: associations and MAOA promoter activity”, 2008 (; similar)
“Language and Communicative Development in Williams Syndrome”, 2007
“Language and communicative development in Williams syndrome”, 2007-02-26 (; similar)
“Genetic Enhancement of Cognition in a Kindred With Cone-rod Dystrophy due to RIMS1 Mutation”, Et Al 2007
“Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation”, 2007 (backlinks; similar)
“Self-management of Fatal Familial Insomnia. Part 2: Case Report”, 2006
“Self-management of fatal familial insomnia. Part 2: case report”, 2006 (; similar)
“Influence of Five Years of Antenatal Screening on the Paediatric Cystic Fibrosis Population in One Region”, 1998
“Influence of five years of antenatal screening on the paediatric cystic fibrosis population in one region”, 1998 (; backlinks; similar)
“When Kim Goodsell Discovered That She Had Two Extremely Rare Genetic Diseases, She Taught Herself Genetics to Help Find out Why.”
“Natural History of Ashkenazi Intelligence”
“The Sports Gene: Inside the Science of Extraordinary Athletic Performance”
“Fathers Bequeath More Mutations As They Age: Genome Study May Explain Links between Paternal Age and Conditions such as Autism”
“Monkeys Genetically Modified to Show Autism Symptoms: But It Is Unclear How Well the Results Match the Condition in Humans”
“A Genome-wide Analysis of Putative Functional and Exonic Variation Associated With Extremely High Intelligence”
“A Gene That Makes You Need Less Sleep?”
“What’s Behind Many Mystery Ailments? Genetic Mutations, Study Finds”
“What's Behind Many Mystery Ailments? Genetic Mutations, Study Finds”
“Thinking Positively: The Genetics of High Intelligence”
“Why Do Humans Still Have a Gene That Increases the Risk of Alzheimer’s?”
Wikipedia
Miscellaneous
-
2016-trumble.pdf2016 () -
2016-ganna.pdf2016 -
https://ajp.psychiatryonline.org/doi/abs/10.1176/appi.ajp.2020.19080834 -
https://davidepstein.substack.com/p/sudden-cardiac-death-in-athletes -
https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-021-00855-5 -
https://old.reddit.com/r/science/comments/2l9dpi/two_new_studies_published_in_nature_provide/ -
https://story.californiasunday.com/superhero-gene-euan-ashley-stanford/ -
https://www.newyorker.com/magazine/2013/09/09/man-and-superman -
https://www.newyorker.com/magazine/2014/07/21/one-of-a-kind-2 -
https://www.newyorker.com/science/maria-konnikova/practice-doesnt-make-perfect -
https://www.outsideonline.com/culture/books-media/how-athletes-get-great/ -
https://www.propublica.org/article/muscular-dystrophy-patient-olympic-medalist-same-genetic-mutation
Link Bibliography
-
https://www.nature.com/articles/s41591-022-02046-0: “Rare and Common Genetic Determinants of Metabolic Individuality and Their Effects on Human Health”, : -
2022-cheng.pdf: “Exome-wide Screening Identifies Novel Rare Risk Variants for Major Depression Disorder”, : -
2022-williams.pdf: “Life Histories of Myeloproliferative Neoplasms Inferred from Phylogenies”, : -
2022-gorzynski.pdf: “Ultra-Rapid Nanopore Genome Sequencing in a Critical Care Setting”, :