Torthaí cuardaigh - Golzio, Christelle

Genetic Architecture of Reciprocal CNVs de réir Golzio, Christelle, Katsanis, Nicholas

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Mitochondrial Copy Number as a Biomarker for Autism? de réir Golzio, Christelle, Katsanis, Nicholas

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Endoglin mediates fibronectin/α5β1 integrin and TGF-β pathway crosstalk in endothelial cells de réir Tian, Hongyu, Mythreye, Karthikeyan, Golzio, Christelle, Katsanis, Nicholas, Blobe, Gerard C

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Endoglin regulates PI3-kinase/Akt trafficking and signaling to alter endothelial capillary stability during angiogenesis de réir Lee, Nam Y., Golzio, Christelle, Gatza, Catherine E., Sharma, Arun, Katsanis, Nicholas, Blobe, Gerard C.

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In Vivo Modeling of the Morbid Human Genome using Danio rerio de réir Niederriter, Adrienne R., Davis, Erica E., Golzio, Christelle, Oh, Edwin C., Tsai, I-Chun, Katsanis, Nicholas

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Phosphorylation of Threonine 794 on Tie1 by Rac1/PAK1 Reveals a Novel Angiogenesis Regulatory Pathway de réir Reinardy, Jessica L., Corey, Daniel M., Golzio, Christelle, Mueller, Sarah B., Katsanis, Nicholas, Kontos, Christopher D.

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Novel bone morphogenetic protein signaling through Smad2 and Smad3 to regulate cancer progression and development de réir Holtzhausen, Alisha, Golzio, Christelle, How, Tam, Lee, Yong-Hun, Schiemann, William P., Katsanis, Nicholas, Blobe, Gerard C.

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Rbm8a Haploinsufficiency Disrupts Embryonic Cortical Development Resulting in Microcephaly de réir Mao, Hanqian, Pilaz, Louis-Jan, McMahon, John J., Golzio, Christelle, Wu, Danwei, Shi, Lei, Katsanis, Nicholas, Silver, Debra L.

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Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome de réir Helm, Benjamin M., Willer, Jason R., Sadeghpour, Azita, Golzio, Christelle, Crouch, Eric, Vergano, Samantha Schrier, Katsanis, Nicholas, Davis, Erica E.

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ISL1 Directly Regulates FGF10 Transcription during Human Cardiac Outflow Formation de réir Golzio, Christelle, Havis, Emmanuelle, Daubas, Philippe, Nuel, Gregory, Babarit, Candice, Munnich, Arnold, Vekemans, Michel, Zaffran, Stéphane, Lyonnet, Stanislas, Etchevers, Heather C.

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Identification of cis-suppression of human disease mutations by comparative genomics de réir Jordan, Daniel M., Frangakis, Stephan G., Golzio, Christelle, Cassa, Christopher A., Kurtzberg, Joanne, Davis, Erica E., Sunyaev, Shamil R., Katsanis, Nicholas

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A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans de réir Brooks, Susan S., Wall, Alissa L., Golzio, Christelle, Reid, David W., Kondyles, Amalia, Willer, Jason R., Botti, Christina, Nicchitta, Christopher V., Katsanis, Nicholas, Davis, Erica E.

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KCTD13 is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11.2 CNV de réir Golzio, Christelle, Willer, Jason, Talkowski, Michael E, Oh, Edwin C, Taniguchi, Yu, Jacquemont, Sébastien, Reymond, Alexandre, Sun, Mei, Sawa, Akira, Gusella, James F, Kamiya, Atsushi, Beckmann, Jacques S, Katsanis, Nicholas

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The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs de réir Loviglio, Maria Nicla, Arbogast, Thomas, Jønch, Aia Elise, Collins, Stephan C., Popadin, Konstantin, Bonnet, Camille S., Giannuzzi, Giuliana, Maillard, Anne M., Jacquemont, Sébastien, Yalcin, Binnaz, Katsanis, Nicholas, Golzio, Christelle, Reymond, Alexandre

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Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome de réir Tsai, I-Chun, McKnight, Kelly, McKinstry, Spencer U., Maynard, Andrew T., Tan, Perciliz L., Golzio, Christelle, White, C. Thomas, Price, Daniel J., Davis, Erica E., Amrine-Madsen, Heather, Katsanis, Nicholas

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Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6 de réir Golzio, Christelle , Martinovic-Bouriel, Jelena , Thomas, Sophie , Mougou-Zrelli, Soumaya , Grattagliano-Bessières, Bettina , Bonnière, Maryse , Delahaye, Sophie , Munnich, Arnold , Encha-Razavi, Férechté , Lyonnet, Stanislas , Vekemans, Michel , Attié-Bitach, Tania , Etchevers, Heather C. 

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CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors de réir Sugathan, Aarathi, Biagioli, Marta, Golzio, Christelle, Erdin, Serkan, Blumenthal, Ian, Manavalan, Poornima, Ragavendran, Ashok, Brand, Harrison, Lucente, Diane, Miles, Judith, Sheridan, Steven D., Stortchevoi, Alexei, Kellis, Manolis, Haggarty, Stephen J., Katsanis, Nicholas, Gusella, James F., Talkowski, Michael E.

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Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions de réir Arbogast, Thomas, Razaz, Parisa, Ellegood, Jacob, McKinstry, Spencer U, Erdin, Serkan, Currall, Benjamin, Aneichyk, Tanya, Lerch, Jason P, Qiu, Lily R, Rodriguiz, Ramona M, Henkelman, R M, Talkowski, Michael E, Wetsel, William C, Golzio, Christelle, Katsanis, Nicholas

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A dominant vimentin variant causes a rare syndrome with premature aging de réir Cogné, Benjamin, Bouameur, Jamal-Eddine, Hayot, Gaëlle, Latypova, Xenia, Pattabiraman, Sundararaghavan, Caillaud, Amandine, Si-Tayeb, Karim, Besnard, Thomas, Küry, Sébastien, Chariau, Caroline, Gaignerie, Anne, David, Laurent, Bordure, Philippe, Kaganovich, Daniel, Bézieau, Stéphane, Golzio, Christelle, Magin, Thomas M., Isidor, Bertrand

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SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant de réir Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M., Kibaek, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J.M., Rosenfeld, Jill A., Zeesman, Susan, Zunich, Janice, Beckmann, Jacques S., Hirschhorn, Joel N., Hastings, Michelle L., Jacquemont, Sebastien, Katsanis, Nicholas

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