AMERICAN JOURNAL OF HUMAN GENETICS

Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.

Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.

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

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

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

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.

Systematic Functional Interrogation of Genes in GWAS Loci Identified ATF1 as a Key Driver in Colorectal Cancer Modulated by a Promoter-Enhancer Interaction.

Impact and Evolutionary Determinants of Neanderthal Introgression on Transcriptional and Post-Transcriptional Regulation.

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.

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

Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.

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

Improved Pathogenic Variant Localization via a Hierarchical Model of Sub-regional Intolerance.

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

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.

Germline 16p11.2 Microdeletion Predisposes to Neuroblastoma.

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

Using the Data We Have: Improving Diversity in Genomic Research.

UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-based Rare-Variant Test.

A Fast and Accurate Method for Genome-Wide Scale Phenome-Wide G × E Analysis and Its Application to UK Biobank.

Fast and Accurate Shared Segment Detection and Relatedness Estimation in Un-phased Genetic Data via TRUFFLE.

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.

Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.

Genome-wide Significance Thresholds for Admixture Mapping Studies.

Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver

SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.

Integrating Clinical Data and Imputed Transcriptome from GWAS to Uncover Complex Disease Subtypes: Applications in Psychiatry and Cardiology.

Identification of African-Specific Admixture between Modern and Archaic Humans.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.

cis Elements that Mediate RNA Polymerase II Pausing Regulate Human Gene Expression

Pathogenic Variants in GPC4 Cause Keipert Syndrome.

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.

Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population

CÓDIGO ANEURISMA ¿UNA REALIDAD NECESARIA?

Late prognosis of surviving patients after open surgical repair of a ruptured abdominal aortic aneurysm

¿EXISTE AUN LA ZONA DE “NO STENT”? RESULTADOS INICIALES DE STENTING EN ARTERIA POPLITEA EN PACIENTES CON ISQUEMIA CRÍTICA

Investigación cooperativa en la SEACV. La Red de Investigación Vascular (RIV)

Erratum: De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders (The American Journal of Human Genetics (2019) 104(1) (139–156), (S0002929718304531) (10.1016/j.ajhg.2018.12.002))

Erratum : Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3 (The American Journal of Human Genetics (2018) 102(6) (1115–1125), (S000292971830140X), (10.1016/j.ajhg.2018.04.008))

CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.

Reflexión y prudencia: paclitaxel en el tratamiento de la enfermedad de la arteria femoral superficial

Tiempo de epitelización y factores pronóstico en úlcera de etiología venosa en tres hospitales