Tara Funari

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia

Matthew J. Rock, Jean Prenen, Vincent Funari et al. · Nature Genetics · 2008 · 235 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia

Deborah Krakow, Joris Vriens, Natalia Camacho et al. · The American Journal of Human Genetics · 2009 · 211 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

Jung‐Hyun Kim, Deepali N. Shinde, Margot R.F. Reijnders et al. · The American Journal of Human Genetics · 2016 · 117 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Fibrochondrogenesis Results from Mutations in the COL11A1 Type XI Collagen Gene

Stuart W. Tompson, Carlos A. Bacino, Nicole P. Safina et al. · The American Journal of Human Genetics · 2010 · 84 citations · Full text

Medicine, Genetics, Molecular Genetics +14

<i>TUBB4A</i> de novo mutations cause isolated hypomyelination

Amy Pizzino, Tyler Mark Pierson, Yiran Guo et al. · Neurology · 2014 · 63 citations · Full text

Medicine, Neurology, Neuroscience +14