Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger, +86

New England Journal of Medicine

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

Cynthia S. Gubbels, Grace E. VanNoy, Jill A. Madden, +13

Genetics in Medicine

Phenotype-driven SelectionNewborn ScreeningSequencingNeonatologyFunctional Genomics +11

Infant mortality: the contribution of genetic disorders

Monica H. Wojcik, Talia S. Schwartz, Katri Thiele, +10

Journal of Perinatology

Pediatric EpidemiologyGenetic EpidemiologyPediatricsPreterm BirthPublic Health +2

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes

Klaus Schmitz‐Abe, Qifei Li, Samantha M. Rosen, +13

European Journal of Human Genetics

Comprehensive ReanalysisMedicineDiagnostic TestProteomicsDiagnosis +10

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews, +58

Cell Reports

Neurodevelopmental DisordersDevelopmental BiologySyndromic AutismDevelopmental GeneticsGenetics +8

Olaparib-induced Adaptive Response Is Disrupted by FOXM1 Targeting that Enhances Sensitivity to PARP Inhibition

Pingping Fang, Jill A. Madden, Lisa Neums, +3

Molecular Cancer Research

Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

Anna R. Duncan, Maya M. Polovitskaya, Héctor Gaitán‐Peñas, +36

The American Journal of Human Genetics

Neurodevelopmental DisordersMolecular NeuroscienceDevelopmental BiologyUnique VariantsGenetic Disorder +8

An Official ATS Workshop Report: Issues in Screening for Asthma in Children

Lynn B. Gerald, Marianna Sockrider, Roni Grad, +17

Proceedings of the American Thoracic Society

AsthmaPediatric EpidemiologyPediatric Lung DiseasePediatricsAllergy Prevention

Involvement of a volatile metabolite during phosphoramide mustard-induced ovotoxicity

Jill A. Madden, Patricia B. Hoyer, Patrick J. Devine, +1

Toxicology and Applied Pharmacology

BiochemistryMedicineVolatile MetaboliteSecondary MetaboliteChemical Warfare Agent +3

Differential regulation of multiple hepatic protein tyrosine phosphatases in alloxan diabetic rats.

J. M. Boylan, David L. Brautigan, Jill A. Madden, +3

Journal of Clinical Investigation

Insulin SignalingOxidative StressMetabolic SyndromeReceptor Tyrosine KinaseDifferential Regulation +20