The American Journal of Human Genetics - 2019

242 articles | Last updated: 2025-12-03 14:12:57

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Genomic Medicine Year in Review: 2019
Identification of African-Specific Admixture between Modern and Archaic Humans
A New Annual Feature of AJHG: Genomic Medicine Year in Review
Genes with High Network Connectivity Are Enriched for Disease Heritability
This Month in The Journal
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction
Sex-Based Analysis of De Novo Variants in Neurodevelopmental Disorders
Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis
Integrating Clinical Data and Imputed Transcriptome from GWAS to Uncover Complex Disease Subtypes: Applications in Psychiatry and Cardiology
Homozygous Null TBX4 Mutations Lead to Posterior Amelia with Pelvic and Pulmonary Hypoplasia
Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2
Making the Most of Clumping and Thresholding for Polygenic Scores
Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities
A Fast and Accurate Method for Genome-wide Scale Phenome-wide G × E Analysis and Its Application to UK Biobank
Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations
A Comprehensive Haplotype-Targeting Strategy for Allele-Specific HTT Suppression in Huntington Disease
This Month in The Journal
Multivariate Genome-wide Association Analysis of a Cytokine Network Reveals Variants with Widespread Immune, Haematological, and Cardiometabolic Pleiotropy
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals
Sequencing Analysis at 8p23 Identifies Multiple Rare Variants in DLC1 Associated with Sleep-Related Oxyhemoglobin Saturation Level
Evolution and Impact of Subclonal Mutations in Papillary Thyroid Cancer
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder
A Genocentric Approach to Discovery of Mendelian Disorders
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Somatic Mutations in Vascular Malformations of Hereditary Hemorrhagic Telangiectasia Result in Bi-allelic Loss of ENG or ACVRL1
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry
Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature
Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data
Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population
Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
A Rare Variant Nonparametric Linkage Method for Nuclear and Extended Pedigrees with Application to Late-Onset Alzheimer Disease via WGS Data
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy
This Month in The Journal
Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort
Estimating the Genome-wide Mutation Rate with Three-Way Identity by Descent
Distinct HLA Associations with Rheumatoid Arthritis Subsets Defined by Serological Subphenotype
Harmonizing Genetic Ancestry and Self-identified Race/Ethnicity in Genome-wide Association Studies
GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank
Impact of Rare and Common Genetic Variants on Diabetes Diagnosis by Hemoglobin A1c in Multi-Ancestry Cohorts: The Trans-Omics for Precision Medicine Program
Adipose Tissue Gene Expression Associations Reveal Hundreds of Candidate Genes for Cardiometabolic Traits
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants
Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome
Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly
Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
Ancestry-Dependent Enrichment of Deleterious Homozygotes in Runs of Homozygosity
Advancing Research and Privacy: Achievements, Challenges, and Core Principles
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
cis Elements that Mediate RNA Polymerase II Pausing Regulate Human Gene Expression
Mendelian Gene Discovery: Fast and Furious with No End in Sight
This Month in The Journal
Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology
Distinct HLA Associations with Rheumatoid Arthritis Subsets Defined by Serological Subphenotype
Redefining the Etiologic Landscape of Cerebellar Malformations
Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis
Using Transcriptomic Hidden Variables to Infer Context-Specific Genotype Effects in the Brain
Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
Extreme Polygenicity of Complex Traits Is Explained by Negative Selection
Identifying Putative Susceptibility Genes and Evaluating Their Associations with Somatic Mutations in Human Cancers
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies
Genes for Good: Engaging the Public in Genetics Research via Social Media
Using the Data We Have: Improving Diversity in Genomic Research
Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways
DNA Damage and Associated DNA Repair Defects in Disease and Premature Aging
This Month in The Journal
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders
Phenome-wide Burden of Copy-Number Variation in the UK Biobank
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
Family Clustering of Autoimmune Vitiligo Results Principally from Polygenic Inheritance of Common Risk Alleles
De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome
Comparing Within- and Between-Family Polygenic Score Prediction
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1
De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder
David “DJ” Weatherall
This Month in The Journal
Australian Genomics: A Federated Model for Integrating Genomics into Healthcare
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Public Discussion Affects Question Asking at Academic Conferences
Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project
Inference of Population Structure from Time-Series Genotype Data
De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders
NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
TIGAR: An Improved Bayesian Tool for Transcriptomic Data Imputation Enhances Gene Mapping of Complex Traits
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
Systematic Functional Interrogation of Genes in GWAS Loci Identified ATF1 as a Key Driver in Colorectal Cancer Modulated by a Promoter-Enhancer Interaction
Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver
Genes for Good: Engaging the Public in Genetics Research via Social Media
Third-Party Genetic Interpretation Tools: A Mixed-Methods Study of Consumer Motivation and Behavior
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia
Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
Expansion of Human-Specific GGC Repeat in Neuronal Intranuclear Inclusion Disease-Related Disorders
Fast and Accurate Shared Segment Detection and Relatedness Estimation in Un-phased Genetic Data via TRUFFLE
Pathogenic Variants in NUP214 Cause “Plugged” Nuclear Pore Channels and Acute Febrile Encephalopathy
This Month in The Journal
Impact and Evolutionary Determinants of Neanderthal Introgression on Transcriptional and Post-Transcriptional Regulation
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome
Geographic Variation and Bias in the Polygenic Scores of Complex Diseases and Traits in Finland
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification
Estimating the Effectiveness of DPYD Genotyping in Italian Individuals Suffering from Cancer Based on the Cost of Chemotherapy-Induced Toxicity
Cell-Type Heterogeneity in Adipose Tissue Is Associated with Complex Traits and Reveals Disease-Relevant Cell-Specific eQTLs
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Germline-Activating RRAS2 Mutations Cause Noonan Syndrome
On Using Local Ancestry to Characterize the Genetic Architecture of Human Traits: Genetic Regulation of Gene Expression in Multiethnic or Admixed Populations
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research
Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction
Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
This Month in The Journal
Disease-Associated Genetic Variation in Human Mitochondrial Protein Import
The Convergence of Research and Clinical Genomics
Benchmarker: An Unbiased, Association-Data-Driven Strategy to Evaluate Gene Prioritization Algorithms
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity
Genes with High Network Connectivity Are Enriched for Disease Heritability
Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development
A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly
A Transient Pulse of Genetic Admixture from the Crusaders in the Near East Identified from Ancient Genome Sequences
IMPACT: Genomic Annotation of Cell-State-Specific Regulatory Elements Inferred from the Epigenome of Bound Transcription Factors
Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer
Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG
Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation
Pathogenic Variants in GPC4 Cause Keipert Syndrome
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia
This Month in The Journal
The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders
The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism
Response to Tibayrenc: On the ASHG Perspective on Genetics and Racial Supremacy
Response to ASHG: Science and Politics Should Be Mutually Sanctuarized
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome
Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct
De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
Disease Heritability Enrichment of Regulatory Elements Is Concentrated in Elements with Ancient Sequence Age and Conserved Function across Species
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia
Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder
2018 Presidential Address: Who Are We?
2018 Curt Stern Award Address
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias
2018 William Allan Award Introduction: Eric S. Lander
2018 ASHG Awards and Addresses
2018 Victor A. McKusick Leadership Award: Molecular Mechanisms for Genomic and Chromosomal Rearrangements
2018 Victor A. McKusick Leadership Award Introduction: James R. Lupski
ACAT: A Fast and Powerful p Value Combination Method for Rare-Variant Analysis in Sequencing Studies
2018 William Allan Award: Discovering the Genes for Common Disease: From Families to Populations
A Global Collaborative to Advance Genomic Medicine
This Month in The Journal
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
Discovery of Allele-Specific Protein-RNA Interactions in Human Transcriptomes
De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
Recent Adaptive Acquisition by African Rainforest Hunter-Gatherers of the Late Pleistocene Sickle-Cell Mutation Suggests Past Differences in Malaria Exposure
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails
Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
Genome-wide Significance Thresholds for Admixture Mapping Studies
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
This Month in The Journal
The Genetic Landscape of Diamond-Blackfan Anemia
Practical and Ethical Considerations of Using Personal DNA Tests with Middle-School-Aged Learners
Optimal Integration of Behavioral Medicine into Clinical Genetics and Genomics
Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria
Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance
Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism
TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies
Raymond Leslie White (1943–2018)
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project
Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies
The American Society of Human Genetics at 70: Looking to the Future of Scientific Publishing and The American Journal of Human Genetics
Integrating Genomics into Healthcare: A Global Responsibility
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
Mutations of ADAMTS9 Cause Nephronophthisis-Related Ciliopathy
Response to Whiffin et al.
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture
In Remembrance of: Luigi Luca Cavalli-Sforza (1922–2018)
Prohibiting Genetic Discrimination to Promote Science, Health, and Fairness
This Month in The Journal
Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals
Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits
De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive
Leveraging Polygenic Functional Enrichment to Improve GWAS Power
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome