Katsanis N - Search Results

1

Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly.

Mao H, Pilaz LJ, McMahon JJ, Golzio C, Wu D, Shi L, Katsanis N, Silver DL. Mao H, et al. Among authors: katsanis n. J Neurosci. 2015 May 6;35(18):7003-18. doi: 10.1523/JNEUROSCI.0018-15.2015. J Neurosci. 2015. PMID: 25948253 Free PMC article.

2

Genetic architecture of reciprocal CNVs.

Golzio C, Katsanis N. Golzio C, et al. Among authors: katsanis n. Curr Opin Genet Dev. 2013 Jun;23(3):240-8. doi: 10.1016/j.gde.2013.04.013. Epub 2013 Jun 5. Curr Opin Genet Dev. 2013. PMID: 23747035 Free PMC article. Review.

3

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.

Brooks SS, Wall AL, Golzio C, Reid DW, Kondyles A, Willer JR, Botti C, Nicchitta CV, Katsanis N, Davis EE. Brooks SS, et al. Among authors: katsanis n. Genetics. 2014 Oct;198(2):723-33. doi: 10.1534/genetics.114.168211. Genetics. 2014. PMID: 25316788 Free PMC article.

4

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.

Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S, Reymond A, Sun M, Sawa A, Gusella JF, Kamiya A, Beckmann JS, Katsanis N. Golzio C, et al. Among authors: katsanis n. Nature. 2012 May 16;485(7398):363-7. doi: 10.1038/nature11091. Nature. 2012. PMID: 22596160 Free PMC article.

5

Mitochondrial Copy Number as a Biomarker for Autism?

Golzio C, Katsanis N. Golzio C, et al. Among authors: katsanis n. Pediatrics. 2016 Apr;137(4):e20160049. doi: 10.1542/peds.2016-0049. Epub 2016 Mar 31. Pediatrics. 2016. PMID: 27033113 Free PMC article. No abstract available.

6

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.

Loviglio MN, Arbogast T, Jønch AE, Collins SC, Popadin K, Bonnet CS, Giannuzzi G, Maillard AM, Jacquemont S; 16p11.2 Consortium; Yalcin B, Katsanis N, Golzio C, Reymond A. Loviglio MN, et al. Among authors: katsanis n. Am J Hum Genet. 2017 Oct 5;101(4):564-577. doi: 10.1016/j.ajhg.2017.08.016. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965845 Free PMC article.

7

Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis.

Lee NY, Golzio C, Gatza CE, Sharma A, Katsanis N, Blobe GC. Lee NY, et al. Among authors: katsanis n. Mol Biol Cell. 2012 Jul;23(13):2412-23. doi: 10.1091/mbc.E11-12-0993. Epub 2012 May 16. Mol Biol Cell. 2012. PMID: 22593212 Free PMC article.

8

Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells.

Tian H, Mythreye K, Golzio C, Katsanis N, Blobe GC. Tian H, et al. Among authors: katsanis n. EMBO J. 2012 Oct 3;31(19):3885-900. doi: 10.1038/emboj.2012.246. Epub 2012 Aug 31. EMBO J. 2012. PMID: 22940691 Free PMC article.

9

In vivo modeling of the morbid human genome using Danio rerio.

Niederriter AR, Davis EE, Golzio C, Oh EC, Tsai IC, Katsanis N. Niederriter AR, et al. Among authors: katsanis n. J Vis Exp. 2013 Aug 24;(78):e50338. doi: 10.3791/50338. J Vis Exp. 2013. PMID: 23995499 Free PMC article.

10

CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors.

Sugathan A, Biagioli M, Golzio C, Erdin S, Blumenthal I, Manavalan P, Ragavendran A, Brand H, Lucente D, Miles J, Sheridan SD, Stortchevoi A, Kellis M, Haggarty SJ, Katsanis N, Gusella JF, Talkowski ME. Sugathan A, et al. Among authors: katsanis n. Proc Natl Acad Sci U S A. 2014 Oct 21;111(42):E4468-77. doi: 10.1073/pnas.1405266111. Epub 2014 Oct 7. Proc Natl Acad Sci U S A. 2014. PMID: 25294932 Free PMC article.

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