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 em 2014

1p36 deletion syndrome: an update

por Jordan, Valerie K, Zaveri, Hitisha P, Scott, Daryl A
Publicado no Appl Clin Genet (2015)

Dusp6(Mkp3) is a negative feedback regulator of FGF stimulated ERK signaling during mouse development

por Li, Chaoying, Scott, Daryl A., Hatch, Ekaterina, Tian, Xiaoyan, Mansour, Suzanne L.
Publicado em 2007

Duplication of HEY2 in Cardiac and Neurologic Development

por Jordan, Valerie K., Rosenfeld, Jill A., Lalani, Seema R., Scott, Daryl A.
Publicado no Am J Med Genet A (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 no Mech Dev (2017)

Expanding the phenotypic spectrum of Succinyl-CoA Ligase Deficiency through functional validation of a new SUCLG1 variant

por Donti, Taraka R., Masand, Ruchi, Scott, Daryl A., Craigen, William J., Graham, Brett H
Publicado no Mol Genet Metab (2016)

Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability

por Thomas, Elizabeth, Lewis, Andrea M., Yang, Yaping, Chanprasert, Sirisak, Potocki, Lorraine, Scott, Daryl A.
Publicado no J Pediatr Genet (2019)

A 1q42 Deletion Involving DISC1, DISC2, and TSNAX in an Autism Spectrum Disorder

por Williams, Jaime M., Beck, Tyler F., Pearson, David M., Proud, Monica B., Cheung, Sau Wai, Scott, Daryl A.
Publicado em 2009

Deletions of Xp Provide Evidence for the Role of Holocytochrome C-Type Synthase (HCCS) in Congenital Diaphragmatic Hernia

por Qidwai, Kanwal, Pearson, David M., Patel, Gayle Simpson, Pober, Barbara R., Immken, LaDonna L., Cheung, Sau Wai, Scott, Daryl A.
Publicado em 2010

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 no PLoS One (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 no Plast Reconstr Surg Glob Open (2018)

Clinical exome sequencing data reveals high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH

por Scott, Tiana M., Campbell, Ian M., Hernandez-Garcia, Andres, Lalani, Seema R., Liu, Pengfei, Shaw, Chad A., Rosenfeld, Jill A., Scott, Daryl A.
Publicado no J Med Genet (2022)

Clinical Geneticists’ Views of VACTERL/VATER Association

por Solomon, Benjamin D., Bear, Kelly A., Kimonis, Virginia, de Klein, Annelies, Scott, Daryl A., Shaw-Smith, Charles, Tibboel, Dick, Reutter, Heiko, Giampietro, Philip F.
Publicado em 2012

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 no Stem Cell Reports (2017)

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome

por Wild, K. Taylor, Gordon, Tia, Bhoj, Elizabeth J., Du, Haowei, Jhangiani, Shalini N., Posey, Jennifer E., Lupski, James R., Scott, Daryl A., Zackai, Elaine H.
Publicado no Am J Med Genet A (2020)

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans

por Gofin, Yoel, Mackay, Laura Palmer, Machol, Keren, Keswani, Sundeep, Potocki, Lorraine, Di Gregorio, Eleonora, Naretto, Valeria Giorgia, Brusco, Alfredo, Hernandez-Garcia, Andres, Scott, Daryl A.
Publicado no Am J Med Genet A (2021)

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 no Dis Model Mech (2018)

Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits, and possibly Diamond-Blackfan anemia

por Wat, Margaret J., Enciso, Victoria B., Wiszniewski, Wojciech, Resnick, Trevor, Bader, Patricia, Roeder, Elizabeth R., Freedenberg, Debra, Brown, Chester, Stankiewicz, Pawel, Cheung, Sau-Wai, Scott, Daryl A.
Publicado em 2010

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

por Rossetti, Linda Z., Glinton, Kevin, Yuan, Bo, Liu, Pengfei, Pillai, Nishitha, Mizerik, Elizabeth, Magoulas, Pilar, Rosenfeld, Jill A., Karaviti, Lefkothea, Sutton, V. Reid, Lalani, Seema R., Scott, Daryl A.
Publicado no Am J Med Genet A (2019)

Chromosome 8p23.1 Deletions as a Cause of Complex Congenital Heart Defects and Diaphragmatic Hernia

por Wat, Margaret J., Shchelochkov, Oleg A., Holder, Ashley M., Breman, Amy M., Dagli, Aditi, Bacino, Carlos, Scaglia, Fernando, Zori, Roberto T., Cheung, Sau Wai, Scott, Daryl A., Kang, Sung-Hae Lee
Publicado em 2009