Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

Sheng Chih Jin, Jason Homsy, Samir Zaidi, +40

Nature Genetics

CardiomyopathyHeart FailureDevelopmental BiologyGeneticsGenetic Epidemiology +5

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

Jason Homsy, Samir Zaidi, Yufeng Shen, +37

Science

Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

J. Travis Hinson, Anant Chopra, Navid A. Nafissi, +16

Science

Cardiac MuscleHeart FailureCardiac Progenitor CellsPathologyCardiac Regeneration +23

Single-Cell Resolution of Temporal Gene Expression during Heart Development

Daniel M. DeLaughter, Alexander G. Bick, Hiroko Wakimoto, +10

Developmental Cell

Cardiac MuscleCardiac ReprogrammingDevelopmental BiologySingle Cell SequencingMedicine +5

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

Joseph Glessner, Alexander G. Bick, Kaoru Ito, +27

Circulation Research

Genomic analyses implicate noncoding de novo variants in congenital heart disease

Felix Richter, Sarah U. Morton, Seong Won Kim, +31

Nature Genetics

Variant InterpretationGeneticsCongenital Heart DefectGenomicsSystems Biology +5

CANOES: detecting rare copy number variants from whole exome sequencing data

Daniel Backenroth, Jason Homsy, Laura Rodriguez Murillo, +6

Nucleic Acids Research

GeneticsGenomicsHigh Throughput SequencingMolecular EcologyComputational Genomics +16

Targeted and genome-wide sequencing reveal single nucleotide variations impacting specificity of Cas9 in human stem cells

Luhan Yang, Dennis Grishin, Gang Wang, +11

Nature Communications

Interpreting <i>de novo</i> Variation in Human Disease Using denovolyzeR

James S. Ware, Kaitlin E. Samocha, Jason Homsy, +1

Current Protocols in Human Genetics

GeneticsGenetic EpidemiologyDisease Gene IdentificationGenomicsComputational Genomics +15

Paternal-age-related de novo mutations and risk for five disorders

Jacob Taylor, Jean-Christophe Debost, Sarah U. Morton, +17

Nature Communications