The American Journal of Human Genetics - 2016

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

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Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy
This Month in Genetics
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
This Month in The Journal
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis
Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa
Chad Genetic Diversity Reveals an African History Marked by Multiple Holocene Eurasian Migrations
Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A
Colocalization of GWAS and eQTL Signals Detects Target Genes
A Functional Variant Associated with Atrial Fibrillation Regulates PITX2c Expression through TFAP2a
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
Response to Shen et al.
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
HLA-C Level Is Regulated by a Polymorphic Oct1 Binding Site in the HLA-C Promoter Region
This Month in The Journal
Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
Was ADH1B under Selection in European Populations?
This Month in Genetics
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine
Allele-Specific Methylome and Transcriptome Analysis Reveals Widespread Imprinting in the Human Placenta
Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis
Evolution of Cell-to-Cell Variability in Stochastic, Controlled, Heteroplasmic mtDNA Populations
Recessive Mutations in ACPT , Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta
GCM2 -Activating Mutations in Familial Isolated Hyperparathyroidism
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement
Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis
Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy
RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population
An Ancient Fecundability-Associated Polymorphism Switches a Repressor into an Enhancer of Endometrial TAP2 Expression
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing
Robust Inference of Identity by Descent from Exome-Sequencing Data
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly
Population Structure of UK Biobank and Ancient Eurasians Reveals Adaptation at Genes Influencing Blood Pressure
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine
This Month in The Journal
This Month in Genetics
Dorothy Warburton (1936–2016)
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus
Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy
Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project
Increasing Generality and Power of Rare-Variant Tests by Utilizing Extended Pedigrees
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy
Are Interactions between cis-Regulatory Variants Evidence for Biological Epistasis or Statistical Artifacts?
Biallelic SUN5 Mutations Cause Autosomal-Recessive Acephalic Spermatozoa Syndrome
Recurrent De Novo and Biallelic Variation of ATAD3A , Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes
Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation
GWIS: Genome-Wide Inferred Statistics for Functions of Multiple Phenotypes
GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
Mutations in GLDN , Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans
Mutations in MBOAT7 , Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features
De Novo Mutations in CHD4 , an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
Adiposity-Dependent Regulatory Effects on Multi-tissue Transcriptomes
Complex Sources of Variation in Tissue Expression Data: Analysis of the GTEx Lung Transcriptome
Bi-allelic Truncating Mutations in CEP78 , Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss
This Month in Genetics
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome
Ancestral Origins and Genetic History of Tibetan Highlanders
Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects
Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity
This Month in The Journal
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy
Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
Determinants of Power in Gene-Based Burden Testing for Monogenic Disorders
De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
Mutations in PADI6 Cause Female Infertility Characterized by Early Embryonic Arrest
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2
The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype
Constrained Score Statistics Identify Genetic Variants Interacting with Multiple Risk Factors in Barrett’s Esophagus
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
Mutations in DNAJB13 , Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility
Defining KIR and HLA Class I Genotypes at Highest Resolution via High-Throughput Sequencing
This Month in Genetics
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization
Contribution of a Non-classical HLA Gene, HLA-DOA, to the Risk of Rheumatoid Arthritis
This Month in The Journal
De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
Loss-of-Function Mutations in SERPINB8 Linked to Exfoliative Ichthyosis with Impaired Mechanical Stability of Intercellular Adhesions
GNA14 Somatic Mutation Causes Congenital and Sporadic Vascular Tumors by MAPK Activation
Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects
Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons
Integrative Functional Genomics Implicates EPB41 Dysregulation in Hepatocellular Carcinoma Risk
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription
Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy
Heterozygous Mutations in MAP3K7 , Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome
Dorothy Warburton (1936–2016)
This Month in Genetics
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
Human Y Chromosome Haplogroup N: A Non-trivial Time-Resolved Phylogeography that Cuts across Language Families
This Month in The Journal
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
Identification and Functional Characterization of RSPO2 as a Susceptibility Gene for Ossification of the Posterior Longitudinal Ligament of the Spine
Mutations in CDC45 , Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis
PADRE: Pedigree-Aware Distant-Relationship Estimation
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency
Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases
Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits
Contrasting the Genetic Architecture of 30 Complex Traits from Summary Association Data
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation
Trans-ethnic Meta-analysis and Functional Annotation Illuminates the Genetic Architecture of Fasting Glucose and Insulin
Transethnic Genetic-Correlation Estimates from Summary Statistics
Mutations in WNT10B Are Identified in Individuals with Oligodontia
Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease
Boosting the Power of the Sequence Kernel Association Test by Properly Estimating Its Null Distribution
Imputing Phenotypes for Genome-wide Association Studies
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency
A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding
Mutations in CDC14A , Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness
Fast and Accurate Construction of Confidence Intervals for Heritability
Mutations in GANAB , Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease
This Month in The Journal
Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L
Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma
The Epidemiology of Leber Hereditary Optic Neuropathy in the North East of England
This Month in Genetics
Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children
RNA Interference Prevents Autosomal-Dominant Hearing Loss
A Recurrent Mosaic Mutation in SMO , Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
Genomic Profiling of Thyroid Cancer Reveals a Role for Thyroglobulin in Metastasis
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia
Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants
Efficient Integrative Multi-SNP Association Analysis via Deterministic Approximation of Posteriors
Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease
Mutations in SLC26A1 Cause Nephrolithiasis
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus
Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects
Somatic Mutations in NEK9 Cause Nevus Comedonicus
This Month in The Journal
Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy
Analyzing Somatic Genome Rearrangements in Human Cancers by Using Whole-Exome Sequencing
This Month in Genetics
Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer
Mechanisms and Disease Associations of Haplotype-Dependent Allele-Specific DNA Methylation
Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
Population-Scale Sequencing Data Enable Precise Estimates of Y-STR Mutation Rates
Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2
Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2 , a Gene Encoding a Component of the TTT Complex
Allele-Skewed DNA Modification in the Brain: Relevance to a Schizophrenia GWAS
Biallelic BRCA2 Mutations Shape the Somatic Mutational Landscape of Aggressive Prostate Tumors
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions
A Method to Exploit the Structure of Genetic Ancestry Space to Enhance Case-Control Studies
Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions
The Divergence of Neandertal and Modern Human Y Chromosomes
Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma
This Month in Genetics
Genomic Characterization of Esophageal Squamous Cell Carcinoma Reveals Critical Genes Underlying Tumorigenesis and Poor Prognosis
Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy
This Month in The Journal
Imputing Gene Expression in Uncollected Tissues Within and Beyond GTEx
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia
DNA Methylation in Newborns and Maternal Smoking in Pregnancy: Genome-wide Consortium Meta-analysis
Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice
Control for Population Structure and Relatedness for Binary Traits in Genetic Association Studies via Logistic Mixed Models
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3
Frequency and Complexity of De Novo Structural Mutation in Autism
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy
2015 William Allan Award 1
2015 Curt Stern Award 1
PRICKLE2 Mutations Might Not Be Involved in Epilepsy
2015 Victor A. McKusick Leadership Award Introduction: Charles Scriver 1
Extensive Hidden Genomic Mosaicism Revealed in Normal Tissue
Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy
2015 Curt Stern Award Introduction: Leonid Kruglyak 1
2015 William Allan Award Introduction: Kay E. Davies 1
A Clinical Service to Support the Return of Secondary Genomic Findings in Human Research
Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy
A Statistical Approach for Testing Cross-Phenotype Effects of Rare Variants
Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
2015 Victor A. McKusick Leadership Award 1
2015 ASHG Awards and Addresses
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy
A Locus at 5q33.3 Confers Resistance to Tuberculosis in Highly Susceptible Individuals
This Month in Genetics
Presidential Address: All in the Family, or “Gee, Our Old LaSalle Ran Great” 1
This Month in The Journal
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
MEGSA: A Powerful and Flexible Framework for Analyzing Mutual Exclusivity of Tumor Mutations
Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome
Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases
The HTT CAG-Expansion Mutation Determines Age at Death but Not Disease Duration in Huntington Disease
Response to Day et al.
This Month in Genetics
The Kalash Genetic Isolate? The Evidence for Recent Admixture
Introgression of Neandertal- and Denisovan-like Haplotypes Contributes to Adaptive Variation in Human Toll-like Receptors
Disease and Polygenic Architecture: Avoid Trio Design and Appropriately Account for Unscreened Control Subjects for Common Disease
A Robust Example of Collider Bias in a Genetic Association Study
A Burden of Rare Variants Associated with Extremes of Gene Expression in Human Peripheral Blood
ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor
Response to Hellenthal et al.:
This Month in The Journal
TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation
Retrospective Binary-Trait Association Test Elucidates Genetic Architecture of Crohn Disease
Whole-Genome Sequencing Reveals Diverse Models of Structural Variations in Esophageal Squamous Cell Carcinoma
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability
Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations
Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans
This Month in The Journal
Genotype Imputation with Millions of Reference Samples
Model-free Estimation of Recent Genetic Relatedness
Genetic Diversity and Association Studies in US Hispanic/Latino Populations: Applications in the Hispanic Community Health Study/Study of Latinos
Introgression of Neandertal- and Denisovan-like Haplotypes Contributes to Adaptive Variation in Human Toll-like Receptors
Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes
Invariant TAD Boundaries Constrain Cell-Type-Specific Looping Interactions between Promoters and Distal Elements around the CFTR Locus
Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules
This Month in Genetics
Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2
Correlations between Synaptic Initiation and Meiotic Recombination: A Study of Humans and Mice
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
An Efficient Multiple-Testing Adjustment for eQTL Studies that Accounts for Linkage Disequilibrium between Variants
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy
Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability
Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities