The American Journal of Human Genetics - 2015

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

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This Month in The Journal
Multiple Hepatic Regulatory Variants at the GALNT2 GWAS Locus Associated with High-Density Lipoprotein Cholesterol
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
This Month in Genetics
Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms
Somatic Activating PIK3CA Mutations Cause Venous Malformation
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type
Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome
Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain
Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome
RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia
Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome
This Month in The Journal
Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma
Two-Variance-Component Model Improves Genetic Prediction in Family Datasets
This Month in Genetics
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
Dominant Genetic Variation and Missing Heritability for Human Complex Traits: Insights from Twin versus Genome-wide Common SNP Models
Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering
Privacy Risks from Genomic Data-Sharing Beacons
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104							✓		French Canadians
A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia
Amino Acid Variation in HLA Class II Proteins Is a Major Determinant of Humoral Response to Common Viruses
This Month in Genetics
Alternative Splicing QTLs in European and African Populations					✓		✓		European; African
Imputation of KIR Types from SNP Variation Data
This Month in The Journal
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
Mary Lyon: A Tribute
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability
Unraveling Multiple MHC Gene Associations with Systemic Lupus Erythematosus: Model Choice Indicates a Role for HLA Alleles and Non-HLA Genes in Europeans					✓				Europeans
This Month in The Journal
A Genetic-Pathophysiological Framework for Craniosynostosis
Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling
De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
This Month in Genetics
Sequence-Level Analysis of the Major European Huntington Disease Haplotype					✓				Major European Huntington Disease Haplotype
Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa
Accurate Non-parametric Estimation of Recent Effective Population Size from Segments of Identity by Descent
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome
Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency
This Month in The Journal
Leveraging Functional-Annotation Data in Trans-ethnic Fine-Mapping Studies
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
This Month in Genetics
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
Correcting for Sample Contamination in Genotype Calling of DNA Sequence Data
Incorporating Functional Information in Tests of Excess De Novo Mutational Load
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development
A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis
Long-Range Modulation of PAG1 Expression by 8q21 Allergy Risk Variants
Leveraging Functional-Annotation Data in Trans-ethnic Fine-Mapping Studies
A Fast Method that Uses Polygenic Scores to Estimate the Variance Explained by Genome-wide Marker Panels and the Proportion of Variants Affecting a Trait
Decoding NF1 Intragenic Copy-Number Variations
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Runs of Homozygosity: Association with Coronary Artery Disease and Gene Expression in Monocytes and Macrophages
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability
Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23
This Month in Genetics
This Month in The Journal
F. Clarke Fraser (1920–2014)
Disentangling the Effects of Colocalizing Genomic Annotations to Functionally Prioritize Non-coding Variants within Complex-Trait Loci
A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
A Powerful Pathway-Based Adaptive Test for Genetic Association with Common or Rare Variants
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
Improving Phenotypic Prediction by Combining Genetic and Epigenetic Associations
Meta-analysis for Discovering Rare-Variant Associations: Statistical Methods and Software Programs
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation
Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes
A 3.4-kb Copy-Number Deletion near EPAS1 Is Significantly Enriched in High-Altitude Tibetans but Absent from the Denisovan Sequence
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation
Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations
Heterozygous Reelin Mutations Cause Autosomal-Dominant Lateral Temporal Epilepsy
This Month in The Journal
Mutations in the Gene Encoding the E2 Conjugating Enzyme UBE2T Cause Fanconi Anemia
This Month in Genetics
De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies
Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
Accurate and Fast Multiple-Testing Correction in eQTL Studies
Improved Ancestry Estimation for both Genotyping and Sequencing Data using Projection Procrustes Analysis and Genotype Imputation
Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians
Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC
Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects
Recessive Mutations in the α3 (VI) Collagen Gene COL6A3 Cause Early-Onset Isolated Dystonia
Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita
Jump from Pre-mutation to Pathologic Expansion in C9orf72
Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement
Comprehensively Evaluating cis -Regulatory Variation in the Human Prostate Transcriptome by Using Gene-Level Allele-Specific Expression
A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia
Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells
HLA-DPB1 and HLA Class I Confer Risk of and Protection from Narcolepsy
This Month in Genetics
Testing in Microbiome-Profiling Studies with MiRKAT, the Microbiome Regression-Based Kernel Association Test
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
This Month in The Journal
IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice
Low-Frequency Coding Variants at 6p21.33 and 20q11.21 Are Associated with Lung Cancer Risk in Chinese Populations							✓		Chinese populations
The Kalash Genetic Isolate: Ancient Divergence, Drift, and Selection
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction
Biallelic Mutations of Methionyl-tRNA Synthetase Cause a Specific Type of Pulmonary Alveolar Proteinosis Prevalent on Réunion Island
Mixed Model with Correction for Case-Control Ascertainment Increases Association Power
Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome
Leveraging Multi-ethnic Evidence for Mapping Complex Traits in Minority Populations: An Empirical Bayes Approach
Lupus Risk Variant Increases pSTAT1 Binding and Decreases ETS1 Expression
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures
Genome-wide Analysis of Body Proportion Classifies Height-Associated Variants by Mechanism of Action and Implicates Genes Important for Skeletal Development
Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination
A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility
Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome
Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies
This Month in Genetics
This Month in The Journal
Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy
Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability
DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
Genomic Analyses Reveal Mutational Signatures and Frequently Altered Genes in Esophageal Squamous Cell Carcinoma
Mutations in HPCA Cause Autosomal-Recessive Primary Isolated Dystonia
A Statistical Approach for Rare-Variant Association Testing in Affected Sibships
Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements
Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring
Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria
Mutations in the Endothelin Receptor Type A Cause Mandibulofacial Dysostosis with Alopecia
Meta-analysis of 65,734 Individuals Identifies TSPAN15 and SLC44A2 as Two Susceptibility Loci for Venous Thromboembolism
Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome
2014 William Allan Award Introduction: Stuart Orkin1
2014 Curt Stern Award: A Tryst with Genetics1
Absence of BiP Co-chaperone DNAJC3 Causes Diabetes Mellitus and Multisystemic Neurodegeneration
This Month in Genetics
Characterization of Large Structural Genetic Mosaicism in Human Autosomes
2014 Victor A. McKusick Leadership Award1
2014 Curt Stern Award: Adventures in Human Genetics1
2014 Curt Stern Award Introduction: Mark Daly1
2014 ASHG Awards and Addresses
This Month in The Journal
2014 Curt Stern Award Introduction: Gonçalo Abecasis1
2014 Presidential Address: The Time of Our Lives1
2014 William Allan Award: A Hematologist’s Pursuit of Hemoglobin Genetics1
2014 Victor A. McKusick Leadership Award Introduction: David Valle1
Mutations in PNKP Cause Recessive Ataxia with Oculomotor Apraxia Type 4
Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism
Dominant Mutations in KAT6A Cause Intellectual Disability with Recognizable Syndromic Features
A Somatic MAP3K3 Mutation Is Associated with Verrucous Venous Malformation
De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay
Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems
Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci
Selection and Reduced Population Size Cannot Explain Higher Amounts of Neandertal Ancestry in East Asian than in European Human Populations					✓		✓		European human populations; East Asian
De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB
Dominance Genetic Variation Contributes Little to the Missing Heritability for Human Complex Traits
Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta
Loss-of-Function Mutations in CAST Cause Peeling Skin, Leukonychia, Acral Punctate Keratoses, Cheilitis, and Knuckle Pads
Complex History of Admixture between Modern Humans and Neandertals
This Month in The Journal
COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency
This Month in Genetics
Mouse and Human CRKL Is Dosage Sensitive for Cardiac Outflow Tract Formation
Gene Expression in Transformed Lymphocytes Reveals Variation in Endomembrane and HLA Pathways Modifying Cystic Fibrosis Pulmonary Phenotypes
UBE2L3 Polymorphism Amplifies NF-κB Activation and Promotes Plasma Cell Development, Linking Linear Ubiquitination to Multiple Autoimmune Diseases
A Recurrent Mutation in PARK2 Is Associated with Familial Lung Cancer
Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder
Next-Generation Sequencing of Duplication CNVs Reveals that Most Are Tandem and Some Create Fusion Genes at Breakpoints
Adjusting for Heritable Covariates Can Bias Effect Estimates in Genome-Wide Association Studies
Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6
A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome
Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome
Estimates of Continental Ancestry Vary Widely among Individuals with the Same mtDNA Haplogroup
TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription
CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder
This Month in Genetics
CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease
Genome-wide Comparative Analysis of Atopic Dermatitis and Psoriasis Gives Insight into Opposing Genetic Mechanisms
HLA-DPB1 and HLA Class I Confer Risk of and Protection from Narcolepsy
Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems
This Month in The Journal
Biased Allelic Expression in Human Primary Fibroblast Single Cells
DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
Uncovering the Genetic History of the Present-Day Greenlandic Population
Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome
Improvement of SMN2 Pre-mRNA Processing Mediated by Exon-Specific U1 Small Nuclear RNA
CRB2 Mutations Produce a Phenotype Resembling Congenital Nephrosis, Finnish Type, with Cerebral Ventriculomegaly and Raised Alpha-Fetoprotein
MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms
The Genetic Ancestry of African Americans, Latinos, and European Americans across the United States					✓		✓		European Americans; European ancestry; African Americans; Latinos; European Americans
Fine-Scale Mapping of the 5q11.2 Breast Cancer Locus Reveals at Least Three Independent Risk Variants Regulating MAP3K1
Meta-analysis of Correlated Traits via Summary Statistics from GWASs with an Application in Hypertension
Recessive Mutations in COL25A1 Are a Cause of Congenital Cranial Dysinnervation Disorder