Bilaketaren emaitzak - Golzio, Christelle

Genetic Architecture of Reciprocal CNVs nork Golzio, Christelle, Katsanis, Nicholas

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

A Novel Ribosomopathy Caused by Dysfunction of RPL10 Disrupts Neurodevelopment and Causes X-Linked Microcephaly in Humans nork 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.

Testu osoa Testu osoa Testu osoa

KCTD13 is a major driver of mirrored neuroanatomical phenotypes associated with the 16p11.2 CNV nork 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

Testu osoa Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome nork 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

Testu osoa Testu osoa Testu osoa

Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6 nork 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. 

Testu osoa Testu osoa

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

Testu osoa Testu osoa Testu osoa

Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions nork 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

Testu osoa Testu osoa Testu osoa

A dominant vimentin variant causes a rare syndrome with premature aging nork 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

Testu osoa Testu osoa Testu osoa

SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant nork 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

Testu osoa Testu osoa