A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and Disease

Benoit G. Bruneau, Georges Nemer, Joachim P. Schmitt, +8

Cell

Transcriptional RegulationCardiomyopathyMolecular PhysiologyDevelopmental BiologySignaling Pathway +5

Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction

Nahid G. Robertson, Leonard Lu, Stefan Heller, +11

Nature Genetics

Vestibular DysfunctionDevelopmental BiologyVestibular SystemHealth SciencesGenetics +9

A gene for hereditary haemorrhagic telangiectasia maps to chromosome 9q3

Claire L. Shovlin, J. M. B. Hughes, Edward G. D. Tuddenham, +5

Nature Genetics

Mendelian DisorderGenetic DisorderGeneticsHuman PolymorphismPathology +5

Characterization of Endoglin and Identification of Novel Mutations in Hereditary Hemorrhagic Telangiectasia

Claire L. Shovlin, Judith M. Hughes, Jenny Scott, +2

The American Journal of Human Genetics

Hereditary Hemorrhagic TelangiectasiaGenetic DisorderGeneticsHematologyNovel Mutations +4

Neonatal cardiomyopathy in mice homozygous for the Arg403Gln mutation in the α cardiac myosin heavy chain gene

Diane Fatkin, Michael E. Christe, Orlando Aristizábal, +6

Journal of Clinical Investigation

A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients

Allison L. Cirino, Neal K. Lakdawala, Barbara McDonough, +12

Circulation Cardiovascular Genetics

Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study

William J. Lane, Connie M. Westhoff, Nicholas Gleadall, +57

The Lancet Haematology

BioinformaticsDna SequencingRed Blood CellMedicineGenetics +11

Biochemistry and genetics of Klebsiella pneumoniae mutant strains unable to fix N2

Richard T. St. John, Mark Johnston, Christine E. Seidman, +4

Journal of Bacteriology

Cellular EnzymologyReactive Nitrogen SpecieGeneticsPathogenesisBacteriology +12

Altered cardiac excitation–contraction coupling in mutant mice with familial hypertrophic cardiomyopathy

Wei Dong Gao, N Pérez, Christine E. Seidman, +2

Journal of Clinical Investigation

Cardiac MuscleMuscle FunctionEngineeringFamilial Hypertrophic CardiomyopathyCa2+ Transient Amplitude +20

Cardiac fibroblast BAG3 regulates TGFBR2 signaling and fibrosis in dilated cardiomyopathy

Bryan Wang, Margaretha Morsink, Seong Won Kim, +21

Journal of Clinical Investigation