Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study
Miyake, Christina Y., Ehsan, Saad A., Zhang, Lilei, Mackenzie, Samuel J., Azamian, Mahshid S., Scott, Daryl A., Hernandez‐Garcia, Andres, Lalani, Seema R.
Published in American journal of medical genetics. Part A (01.09.2023)
Published in American journal of medical genetics. Part A (01.09.2023)
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Journal Article
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans
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.
Published in American journal of medical genetics. Part A (01.03.2021)
Published in American journal of medical genetics. Part A (01.03.2021)
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Journal Article
Sox7-positive endothelial progenitors establish coronary arteries and govern ventricular compaction
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
Published in EMBO reports (09.10.2023)
Published in EMBO reports (09.10.2023)
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Journal Article
Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO
Sewani, Maham, Nugent, Kimberly, Blackburn, Patrick R., Tarnowski, Jessica M., Hernandez‐Garcia, Andres, Amiel, Jeanne, Whalen, Sandra, Keren, Boris, Courtin, Thomas, Rosenfeld, Jill A., Yang, Yaping, Patterson, Marc C., Pichurin, Pavel, McLean, Scott D., Scott, Daryl A.
Published in American journal of medical genetics. Part A (01.04.2020)
Published in American journal of medical genetics. Part A (01.04.2020)
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Journal Article
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data
Hardcastle, Amy, Berry, Aliska M., Campbell, Ian M., Zhao, Xiaonan, Liu, Pengfei, Gerard, Amanda E., Rosenfeld, Jill A., Sisoudiya, Saumya D., Hernandez‐Garcia, Andres, Loddo, Sara, Di Tommaso, Silvia, Novelli, Antonio, Dentici, Maria L., Capolino, Rossella, Digilio, Maria C., Graziani, Ludovico, Rustad, Cecilie F., Neas, Katherine, Ferrero, Giovanni B., Brusco, Alfredo, Di Gregorio, Eleonora, Wellesley, Diana, Beneteau, Claire, Joubert, Madeleine, Van Den Bogaert, Kris, Boogaerts, Anneleen, McMullan, Dominic J., Dean, John, Giuffrida, Maria G., Bernardini, Laura, Varghese, Vinod, Shannon, Nora L., Harrison, Rachel E., Lam, Wayne W. K., McKee, Shane, Turnpenny, Peter D., Cole, Trevor, Morton, Jenny, Eason, Jacqueline, Jones, Marilyn C., Hall, Rebecca, Wright, Michael, Horridge, Karen, Shaw, Chad A., Chung, Wendy K., Scott, Daryl A.
Published in American journal of medical genetics. Part A (01.10.2022)
Published in American journal of medical genetics. Part A (01.10.2022)
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Journal Article
ATP release after partial hepatectomy regulates liver regeneration in the rat
Gonzales, Emmanuel, Julien, Boris, Serrière-Lanneau, Valérie, Nicou, Alexandra, Doignon, Isabelle, Lagoudakis, Laura, Garcin, Isabelle, Azoulay, Daniel, Duclos-Vallée, Jean-Charles, Castaing, Denis, Samuel, Didier, Hernandez-Garcia, Andres, Awad, Samir S, Combettes, Laurent, Thevananther, Sundararajah, Tordjmann, Thierry
Published in Journal of hepatology (01.01.2010)
Published in Journal of hepatology (01.01.2010)
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Journal Article
RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects
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
Published in Disease models & mechanisms (01.09.2018)
Published in Disease models & mechanisms (01.09.2018)
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Journal Article
FBN1 contributing to familial congenital diaphragmatic hernia
Beck, Tyler F., Campeau, Philippe M., Jhangiani, Shalini N., Gambin, Tomasz, Li, Alexander H., Abo-Zahrah, Reem, Jordan, Valerie K., Hernandez-Garcia, Andres, Wiszniewski, Wojciech K., Muzny, Donna, Gibbs, Richard A., Boerwinkle, Eric, Lupski, James R., Lee, Brendan, Reardon, Willie, Scott, Daryl A.
Published in American journal of medical genetics. Part A (01.04.2015)
Published in American journal of medical genetics. Part A (01.04.2015)
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Journal Article
OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation
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
Published in Frontiers in cell and developmental biology (03.03.2021)
Published in Frontiers in cell and developmental biology (03.03.2021)
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Journal Article
Impact of Preimmunization on Adenoviral Vector Expression and Toxicity in a Subcutaneous Mouse Cancer Model
Vlachaki, Maria T., Hernandez-Garcia, Andres, Ittmann, Michael, Chhikara, Madhu, Aguilar, Laura K., Zhu, Xiaohong, The, Bin S., Butler, E.Brian, Woo, Shiao, Thompson, Timothy C., Barrera-Saldana, Hugo, Aguilar-Cordova, Estuardo
Published in Molecular therapy (01.09.2002)
Published in Molecular therapy (01.09.2002)
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Journal Article
Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH
Scott, Tiana M, Campbell, Ian M, Hernandez-Garcia, Andres, Lalani, Seema R, Liu, Pengfei, Shaw, Chad A, Rosenfeld, Jill A, Scott, Daryl A
Published in Journal of medical genetics (01.03.2022)
Published in Journal of medical genetics (01.03.2022)
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Journal Article
Clinical exome sequencing data reveals high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH
Scott, Tiana M., Campbell, Ian M., Hernandez-Garcia, Andres, Lalani, Seema R., Liu, Pengfei, Shaw, Chad A., Rosenfeld, Jill A., Scott, Daryl A.
Published in Journal of medical genetics (18.01.2021)
Published in Journal of medical genetics (18.01.2021)
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Journal Article
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans
Gofin, Yoel, Mackay, Laura Palmer, Machol, Keren, Keswani, Sundeep, Potocki, Lorraine, Di Gregorio, Eleonora, Naretto, Valeria, Brusco, Alfredo, Hernandez-Garcia, Andres, Scott, Daryl
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
eP127 - Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans
Gofin, Yoel, Mackay, Laura Palmer, Machol, Keren, Keswani, Sundeep, Potocki, Lorraine, Di Gregorio, Eleonora, Naretto, Valeria, Brusco, Alfredo, Hernandez-Garcia, Andres, Scott, Daryl
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
P2Y2 purinergic receptor activation is essential for efficient hepatocyte proliferation in response to partial hepatectomy
Tackett, Bryan C, Sun, Hongdan, Mei, Yu, Maynard, Janielle P, Cheruvu, Sayuri, Mani, Arunmani, Hernandez-Garcia, Andres, Vigneswaran, Nadarajah, Karpen, Saul J, Thevananther, Sundararajah
Published in American journal of physiology: Gastrointestinal and liver physiology (01.12.2014)
Published in American journal of physiology: Gastrointestinal and liver physiology (01.12.2014)
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Journal Article
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia
Jordan, Valerie K, Beck, Tyler F, Hernandez-Garcia, Andres, Kundert, Peter N, Kim, Bum-Jun, Jhangiani, Shalini N, Gambin, Tomasz, Starkovich, Molly, Punetha, Jaya, Paine, Ingrid S, Posey, Jennifer E, Li, Alexander H, Muzny, Donna, Hsu, Chih-Wei, Lashua, Amber J, Sun, Xin, Fernandes, Caraciolo J, Dickinson, Mary E, Lally, Kevin P, Gibbs, Richard A, Boerwinkle, Eric, Lupski, James R, Scott, Daryl A
Published in Human molecular genetics (15.06.2018)
Published in Human molecular genetics (15.06.2018)
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Journal Article
Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO
Scott, Daryl A, Hernandez-Garcia, Andres, Azamian, Mahshid S, Jordan, Valerie K, Kim, Bum Jun, Starkovich, Molly, Zhang, Jinglan, Wong, Lee-Jun, Darilek, Sandra A, Breman, Amy M, Yang, Yaping, Lupski, James R, Jiwani, Amyn K, Das, Bibhuti, Lalani, Seema R, Iglesias, Alejandro D, Rosenfeld, Jill A, Xia, Fan
Published in Journal of medical genetics (01.01.2017)
Published in Journal of medical genetics (01.01.2017)
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Journal Article
FOXP1 Haploinsufficiency Contributes to the Development of Congenital Diaphragmatic Hernia
Pendleton, Katherine E, Hernandez-Garcia, Andres, Lyu, Jennifer M, Campbell, Ian M, Shaw, Chad A, Vogt, Julie, High, Frances A, Donahoe, Patricia K, Chung, Wendy K, Scott, Daryl A
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.03.2024)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.03.2024)
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Journal Article
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm
Callaway, Danielle A., Campbell, Ian M., Stover, Samantha R., Hernandez-Garcia, Andres, Jhangiani, Shalini N., Punetha, Jaya, Paine, Ingrid S., Posey, Jennifer E., Muzny, Donna, Lally, Kevin P., Lupski, James R., Shaw, Chad A., Fernandes, Caraciolo J., Scott, Daryl A.
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.12.2018)
Published in Journal of pediatric genetics (Birmingham, Ala.) (01.12.2018)
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Journal Article