The American Journal of Human Genetics - 2017

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

Caucasian

White

European

Other

Article Title	Cauc.		White		Euro.		Other		Phrases Used
Article Title	T	A	T	A	T	A	T	A	Phrases Used
Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities
This Month in Genetics
A Powerful Approach to Estimating Annotation-Stratified Genetic Covariance via GWAS Summary Statistics
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder
This Month in The Journal
So Long, and Thanks for All the Genes!
Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder
A Selection Operator for Summary Association Statistics Reveals Allelic Heterogeneity of Complex Traits
DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations
Multiethnic GWAS Reveals Polygenic Architecture of Earlobe Attachment
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease
Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells
The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan
Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice
Local Genetic Correlation Gives Insights into the Shared Genetic Architecture of Complex Traits
Natural Selection on Genes Related to Cardiovascular Health in High-Altitude Adapted Andeans
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
This Month in Genetics
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44
De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with “Corner Fractures”
Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia
This Month in The Journal
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Genome-wide Ancestry and Demographic History of African-Descendant Maroon Communities from French Guiana and Suriname
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype
Inferring Relevant Cell Types for Complex Traits by Using Single-Cell Gene Expression
A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression
Mendelian Randomization Analysis Identifies CpG Sites as Putative Mediators for Genetic Influences on Cardiovascular Disease Risk
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders
The Contribution of Neanderthals to Phenotypic Variation in Modern Humans
This Month in Genetics
Leveraging Multi-ethnic Evidence for Risk Assessment of Quantitative Traits in Minority Populations
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44
This Month in The Journal
Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2
RETRACTED: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases
Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects
Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features
Fine Mapping and Functional Analysis Reveal a Role of SLC22A1 in Acylcarnitine Transport
Prospects of Fine-Mapping Trait-Associated Genomic Regions by Using Summary Statistics from Genome-wide Association Studies
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes
This Month in Genetics
A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility
A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in Fibrosis
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays
Variant Interpretation: Functional Assays to the Rescue
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes
This Month in The Journal
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44
The Genetic Legacy of Zoroastrianism in Iran and India: Insights into Population Structure, Gene Flow, and Selection
Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping
A Scalable Bayesian Method for Integrating Functional Information in Genome-wide Association Studies
Unified Sequence-Based Association Tests Allowing for Multiple Functional Annotations and Meta-analysis of Noncoding Variation in Metabochip Data
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development
Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia
From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health
Human Germline Genome Editing
William J. “Jack” Schull (1922–2017): Gentleman, Scientist
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome
This Month in The Journal
Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy
Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction
Long Noncoding RNAs CUPID1 and CUPID2 Mediate Breast Cancer Risk at 11q13 by Modulating the Response to DNA Damage
This Month in Genetics
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis
Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences
Leveraging Multi-ethnic Evidence for Risk Assessment of Quantitative Traits in Minority Populations
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis
Integrative Genetic and Epigenetic Analysis Uncovers Regulatory Mechanisms of Autoimmune Disease
Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
This Month in The Journal
This Month in Genetics
10 Years of GWAS Discovery: Biology, Function, and Translation
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression
SEQSpark: A Complete Analysis Tool for Large-Scale Rare Variant Association Studies Using Whole-Genome and Exome Sequence Data
Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life
A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome
A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR
Dynamic Role of trans Regulation of Gene Expression in Relation to Complex Traits
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma
Genetic-Variation-Driven Gene-Expression Changes Highlight Genes with Important Functions for Kidney Disease
Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans
This Month in Genetics
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction
This Month in The Journal
Large-Scale Identification of Common Trait and Disease Variants Affecting Gene Expression
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits
Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource
Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella
Pleiotropic Effects of Trait-Associated Genetic Variation on DNA Methylation: Utility for Refining GWAS Loci
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
Widespread Allelic Heterogeneity in Complex Traits
Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites
High-Resolution Genetic Maps Identify Multiple Type 2 Diabetes Loci at Regulatory Hotspots in African Americans and Europeans							✓		African Americans; Europeans
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome
Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9
Inferring Human Demographic Histories of Non-African Populations from Patterns of Allele Sharing
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability
This Month in Genetics
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions
This Month in The Journal
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas
Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy
This Month in Genetics
This Month in The Journal
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
Modeling the Mutational and Phenotypic Landscapes of Pelizaeus-Merzbacher Disease with Human iPSC-Derived Oligodendrocytes
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome
Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita
Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome
Dynamic Role of trans Regulation of Gene Expression in Relation to Complex Traits
Large-Scale trans -eQTLs Affect Hundreds of Transcripts and Mediate Patterns of Transcriptional Co-regulation
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies
Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly
2016 Curt Stern Award Address: From Rare to Common Diseases: Translating Genetic Discovery to Therapy 1
2016 Victor A. McKusick Leadership Award 1
2016 Victor A. McKusick Leadership Award Introduction: Stanley Gartler 1
This Month in The Journal
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism
2016 ASHG Awards and Addresses
2016 Curt Stern Award Introduction: Brendan Lee 1
2016 Presidential Address: Let’s Make Human Genetics Great (Again): The Importance of Beauty in Science 1
Thyroglobulin in Metastatic Thyroid Cancer: Culprit or Red Herring?
This Month in Genetics
2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling 1
Response to Yehia et al.
2016 William Allan Award Introduction: James Gusella 1
Integrating Gene Expression with Summary Association Statistics to Identify Genes Associated with 30 Complex Traits
Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
Who’s Who? Detecting and Resolving Sample Anomalies in Human DNA Sequencing Studies with Peddy
Public Attitudes toward Consent and Data Sharing in Biobank Research: A Large Multi-site Experimental Survey in the US
Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation
Mutations in INPP5K , Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23
The Genetic Architecture of Gene Expression in Peripheral Blood
This Month in The Journal
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis
This Month in Genetics
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis
Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits
Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis
Expanding Access to Large-Scale Genomic Data While Promoting Privacy: A Game Theoretic Approach
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
This Month in The Journal
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
The Rare-Variant Generalized Disequilibrium Test for Association Analysis of Nuclear and Extended Pedigrees with Application to Alzheimer Disease WGS Data
The Genetic Architecture of Gene Expression in Peripheral Blood
This Month in Genetics
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism
Mixed Model Association with Family-Biased Case-Control Ascertainment
Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis
Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy
A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease
Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation
Proteome-Scale Investigation of Protein Allosteric Regulation Perturbed by Somatic Mutations in 7,000 Cancer Genomes