The American Journal of Human Genetics - 2012

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

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Metabolic Correction of Congenital Erythropoietic Porphyria with iPSCs Free of Reprogramming Factors
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome
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Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor
Improved Heritability Estimation from Genome-wide SNPs
Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities
Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History
Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly
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Margery Wayne Shaw, MD, JD (1923–2012): A Remembrance
Evaluation of the Therapeutic Potential of a CNP Analog in a Fgfr3 Mouse Model Recapitulating Achondroplasia
Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome
Mutations in ANO3 Cause Dominant Craniocervical Dystonia: Ion Channel Implicated in Pathogenesis
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia
Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis
Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility
Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation
Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia
Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations
Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome
An Exponential Combination Procedure for Set-Based Association Tests in Sequencing Studies
Response to Zhu et al.
American Society of Human Genetics GenArt Competition
A Multi-SNP Locus-Association Method Reveals a Substantial Fraction of the Missing Heritability
Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease
Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia
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Margery Wayne Shaw, MD, JD (1923–2012): A Remembrance
Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment
Response to Ott and Hoh
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415
Linkage-Disequilibrium-Based Binning Misleads the Interpretation of Genome-wide Association Studies
Scan Statistics in Human Gene Mapping
Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss
Defective Presynaptic Choline Transport Underlies Hereditary Motor Neuropathy
DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria
A Nonsense Mutation in DHTKD1 Causes Charcot-Marie-Tooth Disease Type 2 in a Large Chinese Pedigree
Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History
Imputation of Exome Sequence Variants into Population- Based Samples and Blood-Cell-Trait-Associated Loci in African Americans: NHLBI GO Exome Sequencing Project							✓		African Americans
Detecting and Estimating Contamination of Human DNA Samples in Sequencing and Array-Based Genotype Data
Genetic Variants at 6p21.1 and 7p15.3 Are Associated with Risk of Multiple Cancers in Han Chinese
Identification of IL18RAP/IL18R1 and IL12B as Leprosy Risk Genes Demonstrates Shared Pathogenesis between Inflammation and Infectious Diseases
Exploring Population Admixture Dynamics via Empirical and Simulated Genome-wide Distribution of Ancestral Chromosomal Segments
AZFc Deletions and Spermatogenic Failure: A Population-Based Survey of 20,000 Y Chromosomes
In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
A Mutation in PNPT1, Encoding Mitochondrial-RNA-Import Protein PNPase, Causes Hereditary Hearing Loss
Unraveling Multiple MHC Gene Associations with Systemic Lupus Erythematosus: Model Choice Indicates a Role for HLA Alleles and Non-HLA Genes in Europeans					✓				in Europeans
Mutation in PNPT1 , which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency
Large-Scale Gene-Centric Meta-analysis across 32 Studies Identifies Multiple Lipid Loci
Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization
Illuminating Potential Technical Artifacts of DNA-Methylation Array Probes
Genome-wide Linkage and Association Analyses Implicate FASN in Predisposition to Uterine Leiomyomata
Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death
Population Genetic Inference from Personal Genome Data: Impact of Ancestry and Admixture on Human Genomic Variation
Cross-Reactive DNA Microarray Probes Lead to False Discovery of Autosomal Sex-Associated DNA Methylation
Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia
Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
DNA Methylation Signatures in Development and Aging of the Human Prefrontal Cortex
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An Excess of Deleterious Variants in VEGF-A Pathway Genes in Down-Syndrome-Associated Atrioventricular Septal Defects
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Estimating Genetic Effects and Quantifying Missing Heritability Explained by Identified Rare-Variant Associations
Discovery and Fine Mapping of Serum Protein Loci through Transethnic Meta-analysis
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus
Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
Infantile Encephaloneuromyopathy and Defective Mitochondrial Translation Are Due to a Homozygous RMND1 Mutation
An RMND1 Mutation Causes Encephalopathy Associated with Multiple Oxidative Phosphorylation Complex Deficiencies and a Mitochondrial Translation Defect
A Hypermorphic Missense Mutation in PLCG2 , Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency
Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer
A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability
Genome-wide Association Study Identifies TNFSF15 and POU2AF1 as Susceptibility Loci for Primary Biliary Cirrhosis in the Japanese Population
A Population-Based Study of Autosomal-Recessive Disease-Causing Mutations in a Founder Population
A Mutation in CABP2 , Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment
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Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
Loss of SUFU Function in Familial Multiple Meningioma
HYST: A Hybrid Set-Based Test for Genome-wide Association Studies, with Application to Protein-Protein Interaction-Based Association Analysis
Questioning the Limits of Genomic Privacy
Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts
VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families
Response to Knoppers et al.
David L. Rimoin
Genetic Risk Factors for Type 2 Diabetes: A Trans-Regulatory Genetic Architecture?
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Prioritizing Genetic Variants for Causality on the Basis of Preferential Linkage Disequilibrium
Genome-wide Association and Population Genetic Analysis of C-Reactive Protein in African American and Hispanic American Women
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease
Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes
RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex
Genomic Profiling of a Human Organotypic Model of AEC Syndrome Reveals ZNF750 as an Essential Downstream Target of Mutant TP63
Divergent Whole-Genome Methylation Maps of Human and Chimpanzee Brains Reveal Epigenetic Basis of Human Regulatory Evolution
Mutation of Membrane Type-1 Metalloproteinase, MT1-MMP, Causes the Multicentric Osteolysis and Arthritis Disease Winchester Syndrome
Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1
A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia
DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and Evolution
Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta
Genomic Patterns of Homozygosity in Worldwide Human Populations
RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome
The TRK-Fused Gene Is Mutated in Hereditary Motor and Sensory Neuropathy with Proximal Dominant Involvement
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Phasing of Many Thousands of Genotyped Samples
A Haplotype at STAT2 Introgressed from Neanderthals and Serves as a Candidate of Positive Selection in Papua New Guinea
ABCB6 Mutations Cause Ocular Coloboma
A Functional Copy-Number Variation in MAPKAPK2 Predicts Risk and Prognosis of Lung Cancer
A Missense Mutation in Myelin Oligodendrocyte Glycoprotein as a Cause of Familial Narcolepsy with Cataplexy
TCTN3 Mutations Cause Mohr-Majewski Syndrome
A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus
Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy
Exome Sequencing Followed by Large-Scale Genotyping Suggests a Limited Role for Moderately Rare Risk Factors of Strong Effect in Schizophrenia
Rare De Novo Germline Copy-Number Variation in Testicular Cancer
A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V
Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies
Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor
POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism
Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation
A Permutation Procedure to Correct for Confounders in Case-Control Studies, Including Tests of Rare Variation
Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores
De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
Presence of Multiple Independent Effects in Risk Loci of Common Complex Human Diseases
HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1 Mice
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies
Estimating Kinship in Admixed Populations
The Evolutionary Landscape of Cytosolic Microbial Sensors in Humans
A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System
Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders
Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability
A Common Variant in SLC8A1 Is Associated with the Duration of the Electrocardiographic QT Interval
Ethiopian Genetic Diversity Reveals Linguistic Stratification and Complex Influences on the Ethiopian Gene Pool
Mutations in DPAGT1 Cause a Limb-Girdle Congenital Myasthenic Syndrome with Tubular Aggregates
Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1
Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V
Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease
Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14
Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
Family-Based Association Studies for Next-Generation Sequencing
TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation
Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation
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Inclusion of Gene-Gene and Gene-Environment Interactions Unlikely to Dramatically Improve Risk Prediction for Complex Diseases
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height
A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome
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Genetic Architecture of MicroRNA Expression: Implications for the Transcriptome and Complex Traits
Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome
Genome-wide Association Study Identifies Candidate Genes for Male Fertility Traits in Humans
RAD21 Mutations Cause a Human Cohesinopathy
Inclusion of Gene-Gene and Gene-Environment Interactions Unlikely to Dramatically Improve Risk Prediction for Complex Diseases
Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity
Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage
Evolutionary History of Copy-Number-Variable Locus for the Low-Affinity Fcγ Receptor: Mutation Rate, Autoimmune Disease, and the Legacy of Helminth Infection
Cantú Syndrome Is Caused by Mutations in ABCC9
The Contribution of CLIP2 Haploinsufficiency to the Clinical Manifestations of the Williams-Beuren Syndrome
Duplication of GTF2I Results in Separation Anxiety in Mice and Humans
Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity
GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome
Scan-Statistic Approach Identifies Clusters of Rare Disease Variants in LRP2, a Gene Linked and Associated with Autism Spectrum Disorders, in Three Datasets
Mitochondrial DNA Signals of Late Glacial Recolonization of Europe from Near Eastern Refugia
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The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times
A General Framework for Two-Stage Analysis of Genome-wide Association Studies and Its Application to Case-Control Studies
A Subset-Based Approach Improves Power and Interpretation for the Combined Analysis of Genetic Association Studies of Heterogeneous Traits
Response to Iliff et al.
Documenting the Corneal Phenotype Associated with the MIR184 c.57C>T Mutation
A Human Homeotic Transformation Resulting from Mutations in PLCB4 and GNAI3 Causes Auriculocondylar Syndrome
A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from Its Root
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Population Demographic History Can Cause the Appearance of Recombination Hotspots
Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia
Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria
Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability
A Genome-wide Association Study Reveals that Variants within the HLA Region Are Associated with Risk for Nonobstructive Azoospermia
Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome
PSORS2 Is Due to Mutations in CARD14
Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis
A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function
Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C
SHANK1 Deletions in Males with Autism Spectrum Disorder
Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
Genetic Adaptation of Fatty-Acid Metabolism: A Human-Specific Haplotype Increasing the Biosynthesis of Long-Chain Omega-3 and Omega-6 Fatty Acids
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci
A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome
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Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery
Alzheimer Disease Susceptibility Loci: Evidence for a Protein Network under Natural Selection
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Resolving the Breakpoints of the 17q21.31 Microdeletion Syndrome with Next-Generation Sequencing
Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy
Combined Analysis of Genome-wide Association Studies for Crohn Disease and Psoriasis Identifies Seven Shared Susceptibility Loci
Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish
A “Copernican” Reassessment of the Human Mitochondrial DNA Tree from its Root
On Sharing Quantitative Trait GWAS Results in an Era of Multiple-omics Data and the Limits of Genomic Privacy
Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as Susceptibility Loci for Systemic Lupus Erythematosus in a Large-Scale Multiracial Replication Study							✓		Multiracial
Primate Genome Gain and Loss: A Bone Dysplasia, Muscular Dystrophy, and Bone Cancer Syndrome Resulting from Mutated Retroviral-Derived MTAP Transcripts
Rare Mutations in XRCC2 Increase the Risk of Breast Cancer
Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis
Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis
Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome
Linkage-Disequilibrium-Based Binning Affects the Interpretation of GWASs
SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome
Maternal Inheritance of a Promoter Variant in the Imprinted PHLDA2 Gene Significantly Increases Birth Weight
Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population							✓		French Canadian population
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome
2011 William Allan Award Introduction: John M. Opitz 1
2011 Presidential Address: From Classroom to Courtroom to Clinic—Closing the Gaps in Human Genetics Education 1
Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome
This Month in The Journal
2011 Introduction to Curt Stern Award 1
2011 William Allan Award: Development and Evolution 1
Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2
Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians
2011 ASHG Awards and Addresses
Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability
This Month in Genetics
2011 Curt Stern Award Address 1
Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB
Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region
Genetically Determined Partial Complement C4 Deficiency States Are Not Independent Risk Factors for SLE in UK and Spanish Populations
Mutations in CTC1 , Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts
Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling
The Basque Paradigm: Genetic Evidence of a Maternal Continuity in the Franco-Cantabrian Region since Pre-Neolithic Times
De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
Use of a Multiethnic Approach to Identify Rheumatoid- Arthritis-Susceptibility Loci, 1p36 and 17q12
Genome-wide Association Study of Three-Dimensional Facial Morphology Identifies a Variant in PAX3 Associated with Nasion Position
Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10 , a Manganese Transporter in Man
Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita
Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy
GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness
Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness
Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci
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Shared and Unique Components of Human Population Structure and Genome-Wide Signals of Positive Selection in South Asia
This Month in Genetics
Resequencing Candidate Genes Implicates Rare Variants in Asthma Susceptibility
Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease
Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria
Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly
Age-Related Somatic Structural Changes in the Nuclear Genome of Human Blood Cells
DNA Methylation Signatures in Development and Aging of the Human Prefrontal Cortex
DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation
RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans
Mitochondrial DNA and Y Chromosome Variation Provides Evidence for a Recent Common Ancestry between Native Americans and Indigenous Altaians
Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development
Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy
The Arabian Cradle: Mitochondrial Relicts of the First Steps along the Southern Route out of Africa
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome
Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome
De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome
Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss
RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome
A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome
Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity
This Month in Genetics
A Century beyond the Fly Room
Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis
Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
This Month in The Journal
PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome
Five Years of GWAS Discovery
Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1
ABCB6 Mutations Cause Ocular Coloboma
Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6
De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly
COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke
Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder
Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome
Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus
Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy
Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome
Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement
Mutations in EZH2 Cause Weaver Syndrome