Concepedia

Fine Mapping of the 1p36 Deletion Syndrome Identifies Mutation of PRDM16 as a Cause of Cardiomyopathy

Anne-Karin Arndt, Sebastian Schäfer, Jörg‐Detlef Drenckhahn, M. Khaled Sabeh, Eva Plovie, Almuth Caliebe, Eva Klopocki, Gabriel Musso, Andreas A. Werdich, Hermann Kalwa,

The American Journal of Human Genetics · 2013 · 210 citations · 34 references

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34

The Sequence Alignment/Map format and SAMtools

Heng Li, Alec Wysoker, Tim Fennell et al. · Bioinformatics · 2009 · 67.5K citations · Full text

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TopHat: discovering splice junctions with RNA-Seq

Cole Trapnell, Lior Pachter, Steven L. Salzberg · Bioinformatics · 2009 · 12.1K citations · Full text

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PRDM16 controls a brown fat/skeletal muscle switch

Patrick Seale, Bryan C. Bjork, Wenli Yang et al. · Nature · 2008 · 2.3K citations · Full text

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DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Helen V. Firth, Shola M. Richards, A. Paul Bevan et al. · The American Journal of Human Genetics · 2009 · 2.1K citations · Full text

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Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy

Rolf Jenni · Heart · 2001 · 1.5K citations · Full text

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