The American Journal of Human Genetics - 2013

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

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Estimation of SNP Heritability from Dense Genotype Data
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Mapping eQTLs in the Norfolk Island Genetic Isolate Identifies Candidate Genes for CVD Risk Traits
Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory Elements
Response to Lee et al.: SNP-Based Heritability Analysis with Dense Data
Mutation-Driven Evolution
SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid
Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes							✓		Danish individuals
Fine-Scale Mapping of the FGFR2 Breast Cancer Risk Locus: Putative Functional Variants Differentially Bind FOXA1 and E2F1
Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia
Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism
Morbid Obesity Resulting from Inactivation of the Ciliary Protein CEP19 in Humans and Mice
Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia
Genetic and Epigenetic Regulation of Human lincRNA Gene Expression
Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears
Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
Integrating GWASs and Human Protein Interaction Networks Identifies a Gene Subnetwork Underlying Alcohol Dependence
Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans
Accurate Local-Ancestry Inference in Exome-Sequenced Admixed Individuals via Off-Target Sequence Reads
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Beyond GWASs: Illuminating the Dark Road from Association to Function
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Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia
SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant
Global Analysis of DNA Methylation Variation in Adipose Tissue from Twins Reveals Links to Disease-Associated Variants in Distal Regulatory Elements
Inference of the Genetic Architecture Underlying BMI and Height with the Use of 20,240 Sibling Pairs
WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia
Association of Parkinson Disease with Structural and Regulatory Variants in the HLA Region
Mutations in the Gene Encoding IFT Dynein Complex Component WDR34 Cause Jeune Asphyxiating Thoracic Dystrophy
Pulling out the 1%: Whole-Genome Capture for the Targeted Enrichment of Ancient DNA Sequencing Libraries
The Roles of FMRP-Regulated Genes in Autism Spectrum Disorder: Single- and Multiple-Hit Genetic Etiologies
De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
A Dominant Mutation in FBXO38 Causes Distal Spinal Muscular Atrophy with Calf Predominance
Detecting Identity by Descent and Estimating Genotype Error Rates in Sequence Data
Mutations in SERPINB7, Encoding a Member of the Serine Protease Inhibitor Superfamily, Cause Nagashima-type Palmoplantar Keratosis
Gain-of-Function Mutations in SCN11A Cause Familial Episodic Pain
SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
Germline Mutations in NFKB2 Implicate the Noncanonical NF-κB Pathway in the Pathogenesis of Common Variable Immunodeficiency
ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19
Macrocytic Anemia and Mitochondriopathy Resulting from a Defect in Sideroflexin 4
Haplotype Estimation Using Sequencing Reads
Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4
Identification of Small Exonic CNV from Whole-Exome Sequence Data and Application to Autism Spectrum Disorder
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Fine Mapping and Identification of BMI Loci in African Americans
Formation of Chimeric Genes by Copy-Number Variation as a Mutational Mechanism in Schizophrenia
Irene A. Uchida, 1917–2013
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
Reliable Identification of Genomic Variants from RNA-Seq Data
Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay
The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1
Cole Disease Results from Mutations in ENPP1
The IL-33-ST2L Pathway Is Associated with Coronary Artery Disease in a Chinese Han Population							✓		Chinese Han population
Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia
Topical Enzyme-Replacement Therapy Restores Transglutaminase 1 Activity and Corrects Architecture of Transglutaminase-1-Deficient Skin Grafts
Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms
Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes
Genetic Mapping with Multiple Levels of Phenotypic Information Reveals Determinants of Lymphocyte Glucocorticoid Sensitivity
Transmission Disequilibrium of Small CNVs in Simplex Autism
Mutations in GMPPA Cause a Glycosylation Disorder Characterized by Intellectual Disability and Autonomic Dysfunction
An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1
Mutations in BCAP31 Cause a Severe X-Linked Phenotype with Deafness, Dystonia, and Central Hypomyelination and Disorganize the Golgi Apparatus
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Diversity of Lactase Persistence Alleles in Ethiopia: Signature of a Soft Selective Sweep
Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy
Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy
Mutations in IMPG1 Cause Vitelliform Macular Dystrophies
BMP9 Mutations Cause a Vascular-Anomaly Syndrome with Phenotypic Overlap with Hereditary Hemorrhagic Telangiectasia
Genome-wide Association Analysis of Blood-Pressure Traits in African-Ancestry Individuals Reveals Common Associated Genes in African and Non-African Populations
Mutations in DDX59 Implicate RNA Helicase in the Pathogenesis of Orofaciodigital Syndrome
DrGaP: A Powerful Tool for Identifying Driver Genes and Pathways in Cancer Sequencing Studies
Additive Genetic Variation in Schizophrenia Risk Is Shared by Populations of African and European Descent
Whole-Genome Sequencing Uncovers the Genetic Basis of Chronic Mountain Sickness in Andean Highlanders
TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum
Genetic Evidence for Recent Population Mixture in India
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XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing
Nine Loci for Ocular Axial Length Identified through Genome-wide Association Studies, Including Shared Loci with Refractive Error
Mapping the Human Reference Genome’s Missing Sequence by Three-Way Admixture in Latino Genomes
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Recurrent Gain-of-Function Mutation in PRKG1 Causes Thoracic Aortic Aneurysms and Acute Aortic Dissections
RFMix: A Discriminative Modeling Approach for Rapid and Robust Local-Ancestry Inference
Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia
What Is the Significance of Difference in Phenotypic Variability across SNP Genotypes?
Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60
Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia
ZMYND10 Is Mutated in Primary Ciliary Dyskinesia and Interacts with LRRC6
Meta-analysis of Gene-Level Associations for Rare Variants Based on Single-Variant Statistics
Imprinted Chromatin around DIRAS3 Regulates Alternative Splicing of GNG12-AS1, a Long Noncoding RNA
XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing
Mutations in ARL2BP, Encoding ADP-Ribosylation-Factor-Like 2 Binding Protein, Cause Autosomal-Recessive Retinitis Pigmentosa
ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry
ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy
Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations
Mobile DNA: Finding Treasure in Junk
Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
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Two Susceptibility Loci to Takayasu Arteritis Reveal a Synergistic Role of the IL12B and HLA-B Regions in a Japanese Population
Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis
Mutations in LRPAP1 Are Associated with Severe Myopia in Humans
Intellectual Disability Is Associated with Increased Runs of Homozygosity in Simplex Autism
Recessive TRAPPC11 Mutations Cause a Disease Spectrum of Limb Girdle Muscular Dystrophy and Myopathy with Movement Disorder and Intellectual Disability
Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma
SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling
Mutations in PIK3R1 Cause SHORT Syndrome
PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy
TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
miR-196a Ameliorates Phenotypes of Huntington Disease in Cell, Transgenic Mouse, and Induced Pluripotent Stem Cell Models
Dissecting Disease Inheritance Modes in a Three-Dimensional Protein Network Challenges the “Guilt-by-Association” Principle
Coding Variants at Hexa-allelic Amino Acid 13 of HLA-DRB1 Explain Independent SNP Associations with Follicular Lymphoma Risk
Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS/MAPK Pathway Syndrome
Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy
Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
General Framework for Meta-analysis of Rare Variants in Sequencing Association Studies
Identifying Darwinian Selection Acting on Different Human APOL1 Variants among Diverse African Populations
Alteration of Ganglioside Biosynthesis Responsible for Complex Hereditary Spastic Paraplegia
De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability
Alleles of a Polymorphic ETV6 Binding Site in DCDC2 Confer Risk of Reading and Language Impairment
Frank Ruddle (1929–2013)
Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease
Long Runs of Homozygosity Are Enriched for Deleterious Variation
Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy
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Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections
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Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy
Genome-wide Characterization of Shared and Distinct Genetic Components that Influence Blood Lipid Levels in Ethnically Diverse Human Populations
Enhanced Localization of Genetic Samples through Linkage-Disequilibrium Correction
Age-Dependent Germline Mosaicism of the Most Common Noonan Syndrome Mutation Shows the Signature of Germline Selection
Large Sample Size, Wide Variant Spectrum, and Advanced Machine-Learning Technique Boost Risk Prediction for Inflammatory Bowel Disease
Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis
A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis
Hypermethylation of the CpG Island Near the G4C2 Repeat in ALS with a C9orf72 Expansion
Network-Based Multiple Sclerosis Pathway Analysis with GWAS Data from 15,000 Cases and 30,000 Controls
Detecting and Characterizing Genomic Signatures of Positive Selection in Global Populations
Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease
Sequence Kernel Association Tests for the Combined Effect of Rare and Common Variants
FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
Germline BAP1 Mutations Predispose to Renal Cell Carcinomas
Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders
Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy
Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos-Syndrome-like Connective Tissue Disorder
Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia
Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance
Weight Loss after Gastric Bypass Is Associated with a Variant at 15q26.1
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MASTOR: Mixed-Model Association Mapping of Quantitative Traits in Samples with Related Individuals
Incidental Variants Are Critical for Genomics
Genome-wide Association Analysis for Multiple Continuous Secondary Phenotypes
Mutations in SCO2 Are Associated with Autosomal-Dominant High-Grade Myopia
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Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 Are Identified in Individuals with Congenital Hypogonadotropic Hypogonadism
eXclusion: Toward Integrating the X Chromosome in Genome-wide Association Analyses
Sherlock: Detecting Gene-Disease Associations by Matching Patterns of Expression QTL and GWAS
Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity
Mutations in ERCC4, Encoding the DNA-Repair Endonuclease XPF, Cause Fanconi Anemia
Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia
ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity
Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase
FOXP2 Targets Show Evidence of Positive Selection in European Populations					✓				European populations
Mutations in ANTXR1 Cause GAPO Syndrome
Missense Mutations in SLC26A8, Encoding a Sperm-Specific Activator of CFTR, Are Associated with Human Asthenozoospermia
A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
GIGI: An Approach to Effective Imputation of Dense Genotypes on Large Pedigrees
Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability
Improving the Accuracy and Efficiency of Partitioning Heritability into the Contributions of Genomic Regions
Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes
PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome
An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree
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A Mechanism for Controlled Access to GWAS Data: Experience of the GAIN Data Access Committee
Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria
Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
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The Benefits of Using Genetic Information to Design Prevention Trials
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
Complete Haplotype Sequence of the Human Immunoglobulin Heavy-Chain Variable, Diversity, and Joining Genes and Characterization of Allelic and Copy-Number Variation
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome
Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers
Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome
Common Risk Alleles for Inflammatory Diseases Are Targets of Recent Positive Selection
WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta
Mutations in WNT1 Cause Different Forms of Bone Fragility
2012 Curt Stern Award Address1
2012 ASHG Awards and Addresses
2012 William Allan Award: Adventures in Cytogenetics1
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2012 Presidential Address: The Scientist as a Citizen of the World1
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2012 Introduction to the Curt Stern Award: Jay Shendure1
2012 William Allan Award Introduction: Uta Francke1
A CpG Mutational Hotspot in a ONECUT Binding Site Accounts for the Prevalent Variant of Hemophilia B Leyden
Mutations in LAMB1 Cause Cobblestone Brain Malformation without Muscular or Ocular Abnormalities
Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs
Enhanced Maternal Origin of the 22q11.2 Deletion in Velocardiofacial and DiGeorge Syndromes
An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree
Mutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-Dystroglycan
Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita
Whole-Exome Sequencing Identifies Mutated C12orf57 in Recessive Corpus Callosum Hypoplasia
Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia
Large C9orf72 Hexanucleotide Repeat Expansions Are Seen in Multiple Neurodegenerative Syndromes and Are More Frequent Than Expected in the UK Population
ACTN1 Mutations Cause Congenital Macrothrombocytopenia
Exome Sequencing Identifies GNB4 Mutations as a Cause of Dominant Intermediate Charcot-Marie-Tooth Disease
ADAMTS7 Cleavage and Vascular Smooth Muscle Cell Migration Is Affected by a Coronary-Artery-Disease-Associated Variant
Age-Dependent Association between Pulmonary Tuberculosis and Common TOX Variants in the 8q12–13 Linkage Region
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LRIG2 Mutations Cause Urofacial Syndrome
Mutations in C10orf11, a Melanocyte-Differentiation Gene, Cause Autosomal-Recessive Albinism
Mutations in MED12 Cause X-Linked Ohdo Syndrome
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Somatic Uniparental Isodisomy Explains Multifocality of Glomuvenous Malformations
Improved Detection of Common Variants Associated with Schizophrenia by Leveraging Pleiotropy with Cardiovascular-Disease Risk Factors
Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder
Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta
Ancient Substructure in Early mtDNA Lineages of Southern Africa
Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity
Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy
Common Genetic Risk Factors for Venous Thrombosis in the Chinese Population
Genetic Basis of Y-Linked Hearing Impairment
Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability
A Highly Unstable Recent Mutation in Human mtDNA
Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma
ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
Deep Whole-Genome Sequencing of 100 Southeast Asian Malays
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly Is Caused by a Duplication in RUNX2
Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly
Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia
Whole-Genome Analysis Reveals that Mutations in Inositol Polyphosphate Phosphatase-like 1 Cause Opsismodysplasia
Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation
Meta-analysis Followed by Replication Identifies Loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as Associated with Systemic Lupus Erythematosus in Asians
Rare, Low-Frequency, and Common Variants in the Protein-Coding Sequence of Biological Candidate Genes from GWASs Contribute to Risk of Rheumatoid Arthritis
Genomic Pathology of SLE-Associated Copy-Number Variation at the FCGR2C/FCGR3B/FCGR2B Locus
Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D
Gain-of-Function Lipoprotein Lipase Variant rs13702 Modulates Lipid Traits through Disruption of a MicroRNA-410 Seed Site
Germline PIK3CA and AKT1 Mutations in Cowden and Cowden-like Syndromes
Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
A Regulatory Path Associated with X-Linked Intellectual Disability and Epilepsy Links KDM5C to the Polyalanine Expansions in ARX
Refinement in Localization and Identification of Gene Regions Associated with Crohn Disease
Integrating GWAS and Expression Data for Functional Characterization of Disease-Associated SNPs: An Application to Follicular Lymphoma
Whole-Exome Sequencing Identifies LRIT3 Mutations as a Cause of Autosomal-Recessive Complete Congenital Stationary Night Blindness