The American Journal of Human Genetics - 2020

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

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Response to Hall et al.
This Month in The Journal
Genomic Medicine Year in Review: 2020
Using the Term Amyoplasia Loosely Can Lead to Confusion
Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
Multiplexed Functional Assessment of Genetic Variants in CARD11
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment
A Multi-omic Integrative Scheme Characterizes Tissues of Action at Loci Associated with Type 2 Diabetes
VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects
Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
The Practice of Anti-racist Science Requires an Internationalist Perspective
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
Not All Autism Genes Are Created Equal: A Response to Myers et al.
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants
Analogies in Genomics Policymaking: Debates and Drawbacks
This Month in The Journal
Response to Buxbaum et al.
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies
Apigenin as a Candidate Prenatal Treatment for Trisomy 21: Effects in Human Amniocytes and the Ts1Cje Mouse Model
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome
Probabilistic Estimation of Identity by Descent Segment Endpoints and Detection of Recent Selection
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2
A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos
Analysis of Trans-Ancestral SLE Risk Loci Identifies Unique Biologic Networks and Drug Targets in African and European Ancestries					✓				European Ancestries
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
Lessons Learned from Bugs in Models of Human History
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
Roadmap for Establishing Large-Scale Genomic Medicine Initiatives in Low- and Middle-Income Countries
This Month in The Journal
Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks
Bayesian Genome-wide TWAS Method to Leverage both cis- and trans-eQTL Information through Summary Statistics
Generalizability of “GWAS Hits” in Clinical Populations: Lessons from Childhood Cancer Survivors
Ovarian Cancer Risk Variants Are Enriched in Histotype-Specific Enhancers and Disrupt Transcription Factor Binding Sites
Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions
Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation
De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
The Role of Age-Related Clonal Hematopoiesis in Genetic Sequencing Studies
Response to Holstege et al.
Genome-wide Study Identifies Association between HLA-B∗55:01 and Self-Reported Penicillin Allergy
Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma
Inferring Gene-by-Environment Interactions with a Bayesian Whole-Genome Regression Model
Advancing Diverse Participation in Research with Special Consideration for Vulnerable Populations
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
This Month in The Journal
eQTL Colocalization Analyses Identify NTN4 as a Candidate Breast Cancer Risk Gene
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies
De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy
Promoter CpG Density Predicts Downstream Gene Loss-of-Function Intolerance
Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice
The Role of Host Genetic Factors in Coronavirus Susceptibility: Review of Animal and Systematic Review of Human Literature
Detecting Allele-Specific Alternative Splicing from Population-Scale RNA-Seq Data
High Levels of Genetic Diversity within Nilo-Saharan Populations: Implications for Human Adaptation
Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk
Combined Utility of 25 Disease and Risk Factor Polygenic Risk Scores for Stratifying Risk of All-Cause Mortality
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases
Interpretable Clinical Genomics with a Likelihood Ratio Paradigm
Fostering Responsible Research on Ancient DNA
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
This Month in The Journal
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data
Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma
Evolution of a Human-Specific Tandem Repeat Associated with ALS
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum
Human iPSC Modeling Reveals Mutation-Specific Responses to Gene Therapy in a Genotypically Diverse Dominant Maculopathy
Genetic Consequences of the Transatlantic Slave Trade in the Americas
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
Bi-allelic Mutations in M1AP Are a Frequent Cause of Meiotic Arrest and Severely Impaired Spermatogenesis Leading to Male Infertility
The Genetic Landscape and Epidemiology of Phenylketonuria
Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US
A Platelet Function Modulator of Thrombin Activation Is Causally Linked to Cardiovascular Disease and Affects PAR4 Receptor Signaling
This Month in The Journal
Management of Secondary Genomic Findings
Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility
Genetic and Functional Analyses Point to FAN1 as the Source of Multiple Huntington Disease Modifier Effects
Regional Variation of Splicing QTLs in Human Brain
A Fast and Accurate Method for Genome-Wide Time-to-Event Data Analysis and Its Application to UK Biobank
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios
Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay
High-Throughput Reclassification of SCN5A Variants
Population-Specific Recombination Maps from Segments of Identity by Descent
Evidence of Polygenic Adaptation in Sardinia at Height-Associated Loci Ascertained from the Biobank Japan
Natural Selection Shapes Codon Usage in the Human Genome
Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures
Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility
The American Journal of Human Genetics Welcomes Human Genetics and Genomics Advances to the ASHG Publications Family
This Month in The Journal
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
Philip Leder, MD, 1934–2020, In Memoriam
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases
Polymorphic Inversions Underlie the Shared Genetic Susceptibility of Obesity-Related Diseases
A Genetic History of the Near East from an aDNA Time Course Sampling Eight Points in the Past 4,000 Years
Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics
Systems Genetics in Human Endothelial Cells Identifies Non-coding Variants Modifying Enhancers, Expression, and Complex Disease Traits
An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships
Localizing Components of Shared Transethnic Genetic Architecture of Complex Traits from GWAS Summary Data							✓		transethnic
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling
Characterizing the Causal Pathway for Genetic Variants Associated with Neurological Phenotypes Using Human Brain-Derived Proteome Data
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy
This Month in The Journal
Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval
Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning
Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population
Analysis of U8 snoRNA Variants in Zebrafish Reveals How Bi-allelic Variants Cause Leukoencephalopathy with Calcifications and Cysts
Insufficient Evidence for “Autism-Specific” Genes
Non-coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases
Accurate and Scalable Construction of Polygenic Scores in Large Biobank Data Sets
De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy
Pleiotropy-Based Decomposition of Genetic Risk Scores: Association and Interaction Analysis for Type 2 Diabetes and CAD
Assessing Digital Phenotyping to Enhance Genetic Studies of Human Diseases
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities
Reproductive Choice and Research
Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data
This Month in The Journal
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
Genotyping Array Design and Data Quality Control in the Million Veteran Program
Genetic Architecture of Gene Expression in European and African Americans: An eQTL Mapping Study in GENOA					✓		✓		European and African Americans; African Americans
Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy
Incidence, Origin, and Predictive Model for the Detection and Clinical Management of Segmental Aneuploidies in Human Embryos
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures
Rapid, Phase-free Detection of Long Identity-by-Descent Segments Enables Effective Relationship Classification
Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation
A Fast and Simple Method for Detecting Identity-by-Descent Segments in Large-Scale Data
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy
2019 William Allan Award
2019 Victor A. McKusick Leadership Award
2019 Allan Award Introduction: Stylianos Antonarakis
2019 McKusick Leadership Award Introduction: Huda Zoghbi
2019 Curt Stern Award Introductions: Charles Rotimi and Sarah Tishkoff
Population Histories of the United States Revealed through Fine-Scale Migration and Haplotype Analysis
2019 Curt Stern Award Address
This Month in The Journal
2019 ASHG Awards and Addresses
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification
2019 Presidential Address: An Unexceptional President
De Novo Variants in SPOP Cause Two Clinically Distinct Neurodevelopmental Disorders
Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders
Smoking, DNA Methylation, and Lung Function: a Mendelian Randomization Analysis to Investigate Causal Pathways
Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci
Influence of Genetic Ancestry on Human Serum Proteome
Advocating for Genetics and Genomics Research to Policymakers
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms
Enhancer Domains Predict Gene Pathogenicity and Inform Gene Discovery in Complex Disease
This Month in The Journal
Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia
Allele-Specific QTL Fine Mapping with PLASMA
The Biology of Cell-free DNA Fragmentation and the Roles of DNASE1, DNASE1L3, and DFFB
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella
A Multi-tissue Transcriptome Analysis of Human Metabolites Guides Interpretability of Associations Based on Multi-SNP Models for Gene Expression
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency
Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2
This Month in The Journal
A Robust Method Uncovers Significant Context-Specific Heritability in Diverse Complex Traits
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism
Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency
UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-Based Rare-Variant Test
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities