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OALib Journal期刊
ISSN: 2333-9721
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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome

Response to ASHG: Science and Politics Should Be Mutually Sanctuarized

Response to Tibayrenc: On the ASHG Perspective on Genetics and Racial Supremacy

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia

In Remembrance of: Luigi Luca Cavalli-Sforza (1922–2018)

Integrating Genomics into Healthcare: A Global Responsibility

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

Leveraging Polygenic Functional Enrichment to Improve GWAS Power

Human-Disease Phenotype Map Derived from PheWAS across 38,682 Individuals

Dynamic Scan Procedure for Detecting Rare-Variant Association Regions in Whole-Genome Sequencing Studies

The Convergence of Research and Clinical Genomics

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Optimal Integration of Behavioral Medicine into Clinical Genetics and Genomics

Practical and Ethical Considerations of Using Personal DNA Tests with Middle-School-Aged Learners

Response to Whiffin et al.

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder

Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies

Gene Augmentation and Readthrough Rescue Channelopathy in an iPSC-RPE Model of Congenital Blindness

Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways

De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders

The Iceberg under Water: Unexplored Complexity of Chromoanagenesis in Congenital Disorders

Disease Heritability Enrichment of Regulatory Elements Is Concentrated in Elements with Ancient Sequence Age and Conserved Function across Species

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies

ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia

Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct

Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results

COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity

The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG

Disease-Associated Genetic Variation in Human Mitochondrial Protein Import

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism

Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates

Prohibiting Genetic Discrimination to Promote Science, Health, and Fairness

Raymond Leslie White (1943–2018)

The American Society of Human Genetics at 70: Looking to the Future of Scientific Publishing and The American Journal of Human Genetics

A Transient Pulse of Genetic Admixture from the Crusaders in the Near East Identified from Ancient Genome Sequences

A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

©2008-2020 OALib, Inc | Public user content licensed CC-BY 4.0 unless otherwise specified. OALib ISSN Online: 2333-9721 OALib ISSN Print: 2333-9705