Hypoxia-Induced Angiogenesis: Good and Evil

Bryan L. Krock, N. Skuli, M. Celeste Simon

Genes & Cancer

Transcriptional RegulationAngiogenesisHypoxia-inducible FactorsCell SignalingPhysiology +11

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

Viktor Lukacs, Jayanti Mathur, Rong Mao, +10

Nature Communications

Endothelial HIF-2α regulates murine pathological angiogenesis and revascularization processes

Nicolas Skuli, Amar J. Majmundar, Bryan L. Krock, +11

Journal of Clinical Investigation

Dll4 ExpressionVascular CompromiseTumor BiologyOxidative StressTranscriptional Regulation +16

Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Lora Jh Bean, Birgit Funke, Colleen M. Carlston, +5

Genetics in Medicine

Technical StandardDna SequencingMedicineGeneticsAmerican College +9

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects

Niki T. Loges, Dinu Antony, Aleš Maver, +23

The American Journal of Human Genetics

ChromatinGenome InstabilityDevelopmental BiologyChromatin StructureMendelian Disorder +12

Alagille syndrome mutation update: Comprehensive overview of<i>JAG1</i>and<i>NOTCH2</i>mutation frequencies and insight into missense variant classification

Melissa A. Gilbert, Robert C. Bauer, Ramakrishnan Rajagopalan, +11

Human Mutation

Family MembersGeneticsImmunodeficienciesGenetic EpidemiologyImmunology +18

The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle–kinesin-II dissociation in vertebrate photoreceptors

Bryan L. Krock, Brian D. Perkins

Journal of Cell Science

Ift-particle–kinesin-ii DissociationCilia MaintenanceIntraflagellar TransportMolecular BiologyCytoskeleton +17

The Aryl Hydrocarbon Receptor Promotes IL-10 Production by NK Cells

Sagie Wagage, Beena John, Bryan L. Krock, +5

The Journal of Immunology

ImmunologyImmune RegulationImmunologic MechanismCd4 T Cell ResponsesInnate Immunity +18

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis

Karin Weiss, Hayley P. Lazar, Alina Kurolap, +46

Genetics in Medicine

Mendelian DisorderGenetic DisorderGeneticsGenotype–phenotype CorrelationsGenetic Epidemiology +5

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

Samuel W. Baker, Jill R. Murrell, Addie I. Nesbitt, +24

Journal of Molecular Diagnostics