Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Bhaswati Pandit, Anna Sárközy, L Pennacchio, +26

Nature Genetics

CardiomyopathyMendelian DisorderGenetic DisorderGeneticsGain-of-function Raf1 Mutations +4

The DNA sequence and biology of human chromosome 19

Jane Grimwood, Laurie Gordon, Anne S. Olsen, +93

Nature

ChromatinDnaHuman Chromosome 19GeneticsChromosome Biology +4

The sequence and analysis of duplication-rich human chromosome 16

Joel Martin, Cliff Han, Laurie Gordon, +115

Nature

ChromatinCytogeneticsGeneticsChromosome BiologyMolecular Genetics +3

Lack of MEF2A mutations in coronary artery disease

Li Weng, Nihan Kavaslar, Anna Ustaszewska, +6

Journal of Clinical Investigation

Sequence DeletionEpidemiologyCardiovascular DiseaseAtherosclerosisGenetics +13

The DNA sequence and comparative analysis of human chromosome 5

Jeremy Schmutz, Joel Martin, Astrid Terry, +72

Nature

ChromatinDevelopmental BiologyDnaGeneticsHuman Chromosome 5 +5

Association of common variants in the Joubert syndrome gene (AHI1) with autism

Ana I. Alvarez Retuerto, Rita M. Cantor, Joseph G. Gleeson, +4

Human Molecular Genetics

Joubert SyndromeGeneticsGenetic EpidemiologyMolecular GeneticsDisease Gene Identification +18

Lack of Support for the Association between GAD2 Polymorphisms and Severe Human Obesity

Michael M. Swarbrick, Björn Waldenmaier, L Pennacchio, +18

PLoS Biology

A PYY Q62P variant linked to human obesity

Nadav Ahituv, Nihan Kavaslar, Wendy Schackwitz, +7

Human Molecular Genetics

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

Marco Tartaglia, L Pennacchio, Chen Zhao, +21

Nature Genetics

Developmental BiologyMendelian DisorderGenetic DisorderGeneticsPathogenesis +3