Mouse Model Reveals the Role of RERE in Cerebellar Foliation and the Migration and Maturation of Purkinje Cells

por Kim, Bum Jun, Scott, Daryl A.
Publicado 2014

1p36 deletion syndrome: an update

por Jordan, Valerie K, Zaveri, Hitisha P, Scott, Daryl A
Publicado 2015

SOX7 expression is critically required in FLK1-expressing cells for vasculogenesis and angiogenesis during mouse embryonic development

por Lilly, Andrew J., Mazan, Andrzej, Scott, Daryl A., Lacaud, Georges, Kouskoff, Valerie
Publicado 2017

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability

por Grau, Christina, Starkovich, Molly, Azamian, Mahshid S., Xia, Fan, Cheung, Sau Wai, Evans, Patricia, Henderson, Alex, Lalani, Seema R., Scott, Daryl A.
Publicado 2017

Abstract QS43: Blepharophimosis Ptosis Epicanthus Inversus Syndrome Caused by a ZC3H13 Gene Mutation

por Balkin, Daniel M., Nelson-Williams, Carol, Sumpio, Brandon J., Scott, Daryl A., Pabic, Pierre Le, Schilling, Thomas F., Lifton, Richard P., Narayan, Deepak
Publicado 2018

SOX7 Is Required for Muscle Satellite Cell Development and Maintenance

por Rajgara, Rashida F., Lala-Tabbert, Neena, Marchildon, François, Lamarche, Émilie, MacDonald, Jennifer K., Scott, Daryl A., Blais, Alexandre, Skerjanc, Ilona S., Wiper-Bergeron, Nadine
Publicado 2017

RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects

por Kim, Bum Jun, Zaveri, Hitisha P., Jordan, Valerie K., Hernandez-Garcia, Andres, Jacob, Daron J., Zamora, Diana L., Yu, Wei, Schwartz, Robert J., Scott, Daryl A.
Publicado 2018

Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes

por Yankee, Tara N., Oh, Sungryong, Winchester, Emma Wentworth, Wilderman, Andrea, Robinson, Kelsey, Gordon, Tia, Rosenfeld, Jill A., VanOudenhove, Jennifer, Scott, Daryl A., Leslie, Elizabeth J., Cotney, Justin
Publicado 2023

Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3

por Beck, Tyler F., Shchelochkov, Oleg A., Yu, Zhiyin, Kim, Bum Jun, Hernández-García, Andrés, Zaveri, Hitisha P., Bishop, Colin, Overbeek, Paul A., Stockton, David W., Justice, Monica J., Scott, Daryl A.
Publicado 2013

An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions

por Kim, Bum Jun, Zaveri, Hitisha P., Shchelochkov, Oleg A., Yu, Zhiyin, Hernández-García, Andrés, Seymour, Michelle L., Oghalai, John S., Pereira, Fred A., Stockton, David W., Justice, Monica J., Lee, Brendan, Scott, Daryl A.
Publicado 2013

Schaaf‐Yang syndrome overview: Report of 78 individuals

por McCarthy, John, Lupo, Philip J., Kovar, Erin, Rech, Megan, Bostwick, Bret, Scott, Daryl, Kraft, Katerina, Roscioli, Tony, Charrow, Joel, Schrier Vergano, Samantha A., Lose, Edward, Smiegel, Robert, Lacassie, Yves, Schaaf, Christian P.
Publicado 2018

Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36

por Zaveri, Hitisha P., Beck, Tyler F., Hernández-García, Andrés, Shelly, Katharine E., Montgomery, Tara, van Haeringen, Arie, Anderlid, Britt-Marie, Patel, Chirag, Goel, Himanshu, Houge, Gunnar, Morrow, Bernice E., Cheung, Sau Wai, Lalani, Seema R., Scott, Daryl A.
Publicado 2014

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation

por Saida, Ken, Fukuda, Tokiko, Scott, Daryl A., Sengoku, Toru, Ogata, Kazuhiro, Nicosia, Annarita, Hernandez-Garcia, Andres, Lalani, Seema R., Azamian, Mahshid S., Streff, Haley, Liu, Pengfei, Dai, Hongzheng, Mizuguchi, Takeshi, Miyatake, Satoko, Asahina, Miki, Ogata, Tsutomu, Miyake, Noriko, Matsumoto, Naomichi
Publicado 2021

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

por Purandare, Smita M, Mendoza-Londono, Roberto, Yatsenko, Svetlana A, Napierala, Dobrawa, Scott, Daryl A, Sibai, Tarek, Casas, Kari, Wilson, Patrick, Lee, Jiyun, Muneer, Razia, Leonard, Joe C, Ramji, Faridali G, Lachman, Ralph, Li, Shibo, Stankiewicz, Pawel, Lee, Brendan, Mulvihill, John J
Publicado 2008

Birth defect co-occurrence patterns in the Texas Birth Defects Registry

por Benjamin, Renata H., Scheuerle, Angela E., Scott, Daryl A., Sanchez, Maria Luisa Navarro, Langlois, Peter H., Canfield, Mark A., Northrup, Hope, Schaaf, Christian P., Ray, Joseph W., McLean, Scott D., Chen, Han, Swartz, Michael D., Lupo, Philip J., Agopian, A.J.
Publicado 2022

Sox7‐positive endothelial progenitors establish coronary arteries and govern ventricular compaction

por Chiang, Ivy KN, Humphrey, David, Mills, Richard J, Kaltzis, Peter, Pachauri, Shikha, Graus, Matthew, Saha, Diptarka, Wu, Zhijian, Young, Paul, Sim, Choon Boon, Davidson, Tara, Hernandez‐Garcia, Andres, Shaw, Chad A, Renwick, Alexander, Scott, Daryl A, Porrello, Enzo R, Wong, Emily S, Hudson, James E, Red‐Horse, Kristy, del Monte‐Nieto, Gonzalo, Francois, Mathias
Publicado 2023

A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C

por Huang, Huiyan, Pan, Jiehong, Spielberg, David R., Hanchard, Neil A., Scott, Daryl A., Burrage, Lindsay C., Dai, Hongzheng, Murdock, David, Rosenfeld, Jill A., Mohammad, Ariz, Huang, Tao, Lindsey, Anika G., Kim, Hyori, Chen, Jian, Ramu, Avinash, Morrison, Stephanie A., Dawson, Zachary D., Hu, Alex Z., Tycksen, Eric, Silverman, Gary A., Baldridge, Dustin, Wambach, Jennifer A., Pak, Stephen C., Brody, Steven L., Schedl, Tim
Publicado 2022

Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

por Kim, Hyung-Goo, Rosenfeld, Jill A., Scott, Daryl A., Bénédicte, Gerard, Labonne, Jonathan D., Brown, Jason, McGuire, Marianne, Mahida, Sonal, Naidu, Sakkubai, Gutierrez, Jacqueline, Lesca, Gaetan, des Portes, Vincent, Bruel, Ange-Line, Sorlin, Arthur, Xia, Fan, Capri, Yline, Muller, Eric, McKnight, Dianalee, Torti, Erin, Rüschendorf, Franz, Hummel, Oliver, Islam, Zeyaul, Kolatkar, Prasanna R., Layman, Lawrence C., Ryu, Duchwan, Kong, Il-Keun, Madan-Khetarpal, Suneeta, Kim, Cheol-Hee
Publicado 2019

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

por Dittwald, Piotr, Gambin, Tomasz, Szafranski, Przemyslaw, Li, Jian, Amato, Stephen, Divon, Michael Y., Rodríguez Rojas, Lisa Ximena, Elton, Lindsay E., Scott, Daryl A., Schaaf, Christian P., Torres-Martinez, Wilfredo, Stevens, Abby K., Rosenfeld, Jill A., Agadi, Satish, Francis, David, Kang, Sung-Hae L., Breman, Amy, Lalani, Seema R., Bacino, Carlos A., Bi, Weimin, Milosavljevic, Aleksandar, Beaudet, Arthur L., Patel, Ankita, Shaw, Chad A., Lupski, James R., Gambin, Anna, Cheung, Sau Wai, Stankiewicz, Pawel
Publicado 2013

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

por Okur, Volkan, Chen, Zefu, Vossaert, Liesbeth, Peacock, Sandra, Rosenfeld, Jill, Zhao, Lina, Du, Haowei, Calamaro, Emily, Gerard, Amanda, Zhao, Sen, Kelsay, Jill, Lahr, Ashley, Mighton, Chloe, Porter, Hillary M., Siemon, Amy, Silver, Josh, Svihovec, Shayna, Fong, Chin-To, Grant, Christina L., Lerner-Ellis, Jordan, Manickam, Kandamurugu, Madan-Khetarpal, Suneeta, McCandless, Shawn E., Morel, Chantal F., Schaefer, G. Bradley, Berry-Kravis, Elizabeth M., Gates, Ryan, Gomez-Ospina, Natalia, Qiu, Guixing, Zhang, Terry Jianguo, Wu, Zhihong, Meng, Linyan, Liu, Pengfei, Scott, Daryl A., Lupski, James R., Eng, Christine M., Wu, Nan, Yuan, Bo
Publicado 2021