Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

Gillian Rice, Jacquelyn Bond, Aruna Asipu, +48

Nature Genetics

AllergyAutoimmune DiseasePathogenesisImmunologyInnate Immune Response +3

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt, +132

American Journal of Medical Genetics Part A

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar, +115

The American Journal of Human Genetics

CardiomyopathyHeart FailureCardiorenal SyndromesCardiovascular DiseaseMolecular Phenotype +6

Acute Infantile Liver Failure Due to Mutations in the TRMU Gene

Avraham Zeharia, Avraham Shaag, Orit Pappo, +11

The American Journal of Human Genetics

HepatologyGenetic DisorderLiver PhysiologyGeneticsPathogenesis +10

Transient Infantile Hypertriglyceridemia, Fatty Liver, and Hepatic Fibrosis Caused by Mutated GPD1, Encoding Glycerol-3-Phosphate Dehydrogenase 1

Lina Basel‐Vanagaite, Noam Zevit, Adi Har Zahav, +16

The American Journal of Human Genetics

Metabolic SyndromeMutated Gpd1Metabolic DisorderBiochemistryLiver Physiology +11

<scp><i>SCN3A</i></scp>‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation

Tariq Zaman, Katherine L. Helbig, Jérôme Clatot, +33

Annals of Neurology

Exome sequencing as first‐tier test for fetuses with severe central nervous system structural anomalies

Yuval Yaron, Vered Ofen Glassner, Adi Mory, +10

Ultrasound in Obstetrics and Gynecology

The National Autism Database of Israel: a Resource for Studying Autism Risk Factors, Biomarkers, Outcome Measures, and Treatment Efficacy

Ilan Dinstein, Ayelet Arazi, Hava M. Golan, +42

Journal of Molecular Neuroscience

PsychiatryNational Autism DatabaseTreatment EfficacyAutism Risk FactorsPediatrics +4

A RANDOMIZED, DOUBLE-BLIND STUDY EXAMINING THE COMPARATIVE EFFICACIES AND SAFETY OF INHALED EPINEPHRINE AND NASAL DECONGESTANT IN HOSPITALIZED INFANTS WITH ACUTE BRONCHIOLITIS

Gilat Livni, Avinoam Rachmel, Daphna Marom, +3

The Pediatric Infectious Disease Journal

AsthmaNeonatologyPatient SafetyPediatricsNasal Decongestant +7

Healthcare-associated Versus Community-associated Infective Endocarditis in Children

Daphna Marom, Itzhak Levy, Odit Gutwein, +2

The Pediatric Infectious Disease Journal