The American Journal of Human Genetics - 2011

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

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Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity
Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans
Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type
Homozygosity Mapping and Candidate Prioritization Identify Mutations, Missed by Whole-Exome Sequencing, in SMOC2, Causing Major Dental Developmental Defects
TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone
Dissecting the Genetics of Complex Inheritance: Linkage Disequilibrium Mapping Provides Insight into Crohn Disease
Shared and Unique Components of Human Population Structure and Genome-Wide Signals of Positive Selection in South Asia
Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation
Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway
Time to Say Goodbye …
Finding Disease Variants in Mendelian Disorders By Using Sequence Data: Methods and Applications
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Biallelic Mutations in PLA2G5, Encoding Group V Phospholipase A2, Cause Benign Fleck Retina
Genome-wide Association of Copy-Number Variation Reveals an Association between Short Stature and the Presence of Low-Frequency Genomic Deletions
Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia
Blood Pressure Loci Identified with a Gene-Centric Array
Abundant Pleiotropy in Human Complex Diseases and Traits
A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins
Integrating Autoimmune Risk Loci with Gene-Expression Data Identifies Specific Pathogenic Immune Cell Subsets
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Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome
Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome
Abdominal Aortic Aneurysm Is Associated with a Variant in Low-Density Lipoprotein Receptor-Related Protein 1
Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy
Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy
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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19
Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid
Mutation Altering the miR-184 Seed Region Causes Familial Keratoconus with Cataract
Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder
Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome
Variants Near FOXE1 Are Associated with Hypothyroidism and Other Thyroid Conditions: Using Electronic Medical Records for Genome- and Phenome-wide Studies
Frequency of Nonallelic Homologous Recombination Is Correlated with Length of Homology: Evidence that Ectopic Synapsis Precedes Ectopic Crossing-Over
Adenosine Kinase Deficiency Disrupts the Methionine Cycle and Causes Hypermethioninemia, Encephalopathy, and Abnormal Liver Function
Integrating Autoimmune Risk Loci with Gene-Expression Data Identifies Specific Pathogenic Immune Cell Subsets
XX Ovarian Dysgenesis Is Caused by a PSMC3IP/HOP2 Mutation that Abolishes Coactivation of Estrogen-Driven Transcription
Denisova Admixture and the First Modern Human Dispersals into Southeast Asia and Oceania
Mutations in Iron-Sulfur Cluster Scaffold Genes NFU1 and BOLA3 Cause a Fatal Deficiency of Multiple Respiratory Chain and 2-Oxoacid Dehydrogenase Enzymes
Mutations in CSTA, Encoding Cystatin A, Underlie Exfoliative Ichthyosis and Reveal a Role for This Protease Inhibitor in Cell-Cell Adhesion
The Molecular Origin and Consequences of Escape from miRNA Regulation by HLA-C Alleles
Translation Initiator EIF4G1 Mutations in Familial Parkinson Disease
Epistatic Selection between Coding and Regulatory Variation in Human Evolution and Disease
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Genome-wide Comparison of African-Ancestry Populations from CARe and Other Cohorts Reveals Signals of Natural Selection							✓		African-Ancestry
ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions
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A Missense Mutation in Myelin Oligodendrocyte Glycoprotein as a Cause of Familial Narcolepsy with Cataplexy
Homozygous Mutations in PXDN Cause Congenital Cataract, Corneal Opacity, and Developmental Glaucoma
Faulty Initiation of Proteoglycan Synthesis Causes Cardiac and Joint Defects
High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2
A General Framework for Detecting Disease Associations with Rare Variants in Sequencing Studies
Mutations Causing Familial Biparental Hydatidiform Mole Implicate C6orf221 as a Possible Regulator of Genomic Imprinting in the Human Oocyte
A Variant in MCF2L Is Associated with Osteoarthritis
Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
Chromosomal Haplotypes by Genetic Phasing of Human Families
Studying Gene and Gene-Environment Effects of Uncommon and Common Variants on Continuous Traits: A Marker-Set Approach Using Gene-Trait Similarity Regression
Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors
Mutations in IL36RN/IL1F5 Are Associated with the Severe Episodic Inflammatory Skin Disease Known as Generalized Pustular Psoriasis
Using VAAST to Identify an X-linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency
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Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa
Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms
GWAS Findings for Human Iris Patterns: Associations with Variants in Genes that Influence Normal Neuronal Pattern Development
Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation
Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
VPS35 Mutations in Parkinson Disease
Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability
Recent Admixture in an Indian Population of African Ancestry							✓		African Ancestry
Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation
Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree with Dominant Axonal Charcot-Marie-Tooth Disease
A Mutation in a Skin-Specific Isoform of SMARCAD1 Causes Autosomal-Dominant Adermatoglyphia
Recessive Mutations in DOCK6, Encoding the Guanidine Nucleotide Exchange Factor DOCK6, Lead to Abnormal Actin Cytoskeleton Organization and Adams-Oliver Syndrome
KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2
Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis
Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype
Why Boys Will Be Boys: Two Pathways of Fetal Testicular Androgen Biosynthesis Are Needed for Male Sexual Differentiation
Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors
Human Genetics: The Basics
Response to Browning and Browning
Inactivation of IL11 Signaling Causes Craniosynostosis, Delayed Tooth Eruption, and Supernumerary Teeth
Population Structure Can Inflate SNP-Based Heritability Estimates
VPS35 Mutations in Parkinson Disease
Mutations in the Alpha 1,2-Mannosidase Gene, MAN1B1, Cause Autosomal-Recessive Intellectual Disability
Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis
A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
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Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome
Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia
Recent Admixture in an Indian Population of African Ancestry							✓		African Ancestry
Indian Siddis: African Descendants with Indian Admixture
Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
Exome Sequencing Identifies CCDC8 Mutations in 3-M Syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth
Functional Mutation of SMAC/DIABLO, Encoding a Mitochondrial Proapoptotic Protein, Causes Human Progressive Hearing Loss DFNA64
Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome
Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency
Complement Receptor 1 Gene Variants Are Associated with Erythrocyte Sedimentation Rate
Deficiency of the Cytoskeletal Protein SPECC1L Leads to Oblique Facial Clefting
Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement
X-Linked Congenital Hypertrichosis Syndrome Is Associated with Interchromosomal Insertions Mediated by a Human-Specific Palindrome near SOX3
Genetic Variants at 13q12.12 Are Associated with High Myopia in the Han Chinese Population
Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts
A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis
Mutations in Frizzled 6 Cause Isolated Autosomal-Recessive Nail Dysplasia
The Orphan Disease Networks
Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
RETRACTED: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9
Hereditary Leukonychia, or Porcelain Nails, Resulting from Mutations in PLCD1
Charles Joseph Epstein, M.D., 1933–2011, In Memoriam
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A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma
Disease-Causing Mutations in Genes of the Complement System
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Effects of Natural Selection and Gene Conversion on the Evolution of Human Glycophorins Coding for MNS Blood Polymorphisms in Malaria-Endemic African Populations
DASH: A Method for Identical-by-Descent Haplotype Mapping Uncovers Association with Recent Variation
Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature
Mutations in the N-terminal Actin-Binding Domain of Filamin C Cause a Distal Myopathy
A Revised Root for the Human Y Chromosomal Phylogenetic Tree: The Origin of Patrilineal Diversity in Africa
Response to Bayley: Functional Study Informs Bioinformatic Analysis
Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly
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Succinate Dehydrogenase Gene Variants and Their Role in Cowden Syndrome
Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome
Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
Random-Effects Model Aimed at Discovering Associations in Meta-Analysis of Genome-wide Association Studies
Genome-wide Association Study Identifies Four Genetic Loci Associated with Thyroid Volume and Goiter Risk
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Mutations in ZBTB24 Are Associated with Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome Type 2
Loss of BRCC3 Deubiquitinating Enzyme Leads to Abnormal Angiogenesis and Is Associated with Syndromic Moyamoya
The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis
Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP
Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss
Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6
Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome
Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy
Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment
A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa
Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome
A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia
Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly
Risk Prediction of Complex Diseases from Family History and Known Susceptibility Loci, with Applications for Cancer Screening
Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1
A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis
Tobacco-Smoking-Related Differential DNA Methylation: 27K Discovery and Replication
Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
Insights into the Pathogenesis and Treatment of Cancer from Inborn Errors of Metabolism
Comparing Phylogeny and the Predicted Pathogenicity of Protein Variations Reveals Equal Purifying Selection across the Global Human mtDNA Diversity
Mutations in Myosin Light Chain Kinase Cause Familial Aortic Dissections
A Genome-wide Comparison of the Functional Properties of Rare and Common Genetic Variants in Humans
Vogel and Motulsky's Human Genetics, 4th Edition
Poor Correlations in the Levels of Pathogenic Mitochondrial DNA Mutations in Polar Bodies versus Oocytes and Blastomeres in Humans
Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research
Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis
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Mutant GlialCAM Causes Megalencephalic Leukoencephalopathy with Subcortical Cysts, Benign Familial Macrocephaly, and Macrocephaly with Retardation and Autism
A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy
Loss-of-Function Mutations in RAB18 Cause Warburg Micro Syndrome
DPY19L2 Deletion as a Major Cause of Globozoospermia
Population-Genetic Properties of Differentiated Human Copy-Number Polymorphisms
Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease
2010 Victor A. McKusick Leadership Award Introduction and Address
DPY19L2 Deletion as a Major Cause of Globozoospermia
GATES: A Rapid and Powerful Gene-Based Association Test Using Extended Simes Procedure
AIMP1/p43 Mutation and PMLD
A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome Formation
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2010 William Allan Award Introduction: Jürg Ott
William Allan Award Address: On the Role and Soul of a Statistical Geneticist
2010 ASHG Awards and Addresses
Neurodegenerative Disorder Related to AIMP1/p43 Mutation Is Not a PMLD
Response to Biancheri et al. and Boepsflug-Tanguy et al.: AIMP1/p43 Connatal PMLD
CNNM2, Encoding a Basolateral Protein Required for Renal Mg2+ Handling, Is Mutated in Dominant Hypomagnesemia
2010 Presidential Address: Culture: The Silent Language Geneticists Must Learn— Genetic Research with Indigenous Populations
Genome-wide Association Study Identifies Genetic Variation in Neurocan as a Susceptibility Factor for Bipolar Disorder
Estimating Missing Heritability for Disease from Genome-wide Association Studies
Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability
Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta
Genome-wide Association Study Identifies Genetic Variation in Neurocan as a Susceptibility Factor for Bipolar Disorder
Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy
Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency
Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect
Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy
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Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease
A Fast, Powerful Method for Detecting Identity by Descent
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FAF1, a Gene that Is Disrupted in Cleft Palate and Has Conserved Function in Zebrafish
Functional Screening of Alzheimer Pathology Genome-wide Association Signals in Drosophila
Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans
Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa
A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews							✓		Ashkenazi Jews
Ancient Voyaging and Polynesian Origins
Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42
Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome
NEK1 Mutations Cause Short-Rib Polydactyly Syndrome Type Majewski
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
Genetic Basis of Autoantibody Positive and Negative Rheumatoid Arthritis Risk in a Multi-ethnic Cohort Derived from Electronic Health Records
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To Identify Associations with Rare Variants, Just WHaIT: Weighted Haplotype and Imputation-Based Tests
Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2
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Dominant Mutations in KBTBD13, a Member of the BTB/Kelch Family, Cause Nemaline Myopathy with Cores
A Clinical Scoring System for Selection of Patients for PTEN Mutation Testing Is Proposed on the Basis of a Prospective Study of 3042 Probands
Identification of a Systemic Lupus Erythematosus Susceptibility Locus at 11p13 between PDHX and CD44 in a Multiethnic Study
Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome
Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height
SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice
Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74
GCTA: A Tool for Genome-wide Complex Trait Analysis
Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis