De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Stephan Sanders, Michael T. Murtha, Abha R. Gupta, +27

Nature

Neurodevelopmental DisordersSyndromic AutismWhole-exome SequencingGeneticsGenetic Disorder +7

De novo mutations in histone-modifying genes in congenital heart disease

Samir Zaidi, Murim Choi, Hiroko Wakimoto, +47

Nature

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

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Lynn M. Boyden, Murim Choi, Keith A. Choate, +43

Nature

Molecular PhysiologyGeneticsPhysiologyElectrolyte AbnormalitiesMolecular Biology +5

PeakSeq enables systematic scoring of ChIP-seq experiments relative to controls

Joel Rozowsky, Ghia Euskirchen, Raymond K. Auerbach, +6

Nature Biotechnology

EngineeringMeasurementCalibrationComputational BiologyEducation +4

A map of human genome variation from population-scale sequencing

Richard Durbin, David L. Altshuler, Gonçalo R. Abecasis, +358

HAL (Le Centre pour la Communication Scientifique Directe)

Genomic landscape of cutaneous T cell lymphoma

Jaehyuk Choi, Gerald Goh, Trent Walradt, +21

Nature Genetics

Lymphoid NeoplasiaGenomic LandscapeMedicinePathologyAutoimmunity +6

AlleleSeq: analysis of allele‐specific expression and binding in a network framework

Joel Rozowsky, Alexej Abyzov, Jing Wang, +11

Molecular Systems Biology

Quantifying environmental adaptation of metabolic pathways in metagenomics

Tara A. Gianoulis, Jeroen Raes, Prianka V. Patel, +9

Proceedings of the National Academy of Sciences

De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus

Charuta G. Furey, Jungmin Choi, Sheng Chih Jin, +42

Neuron

De Novo MutationDevelopmental BiologyEpendymaMedicineGenetics +12