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Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 9, p. 2433, doi. 10.1002/ajmg.a.63331
By:
- Miyake, Christina Y.;
- Ehsan, Saad A.;
- Zhang, Lilei;
- Mackenzie, Samuel J.;
- Azamian, Mahshid S.;
- Scott, Daryl A.;
- Hernandez‐Garcia, Andres;
- Lalani, Seema R.
Publication type:
Article
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2958, doi. 10.1002/ajmg.a.62919
By:
- 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
Publication type:
Article
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 836, doi. 10.1002/ajmg.a.62066
By:
- 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.
Publication type:
Article
Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 652, doi. 10.1002/ajmg.a.61466
By:
- 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.
Publication type:
Article
FBN1 contributing to familial congenital diaphragmatic hernia.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 831, doi. 10.1002/ajmg.a.36960
By:
- 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.
Publication type:
Article
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1785, doi. 10.1002/ajmg.a.35391
By:
- Hernández-García, Andrés;
- Brosens, Erwin;
- Zaveri, Hitisha P.;
- de Jong, Elisabeth M.;
- Yu, Zhiyin;
- Namwanje, Maria;
- Mayle, Allison;
- Fernandes, Caraciolo J.;
- Lee, Brendan;
- Blazo, Maria;
- Lalani, Seema R.;
- Tibboel, Dick;
- de Klein, Annelies;
- Scott, Daryl A.
Publication type:
Article
Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36.
Published in:
PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085600
By:
- 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.
Publication type:
Article
Novel Frem1-Related Mouse Phenotypes and Evidence of Genetic Interactions with Gata4 and Slit3.
Published in:
PLoS ONE, 2013, v. 8, n. 3, p. 1, doi. 10.1371/journal.pone.0058830
By:
- 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.
Publication type:
Article
An Allelic Series of Mice Reveals a Role for RERE in the Development of Multiple Organs Affected in Chromosome 1p36 Deletions.
Published in:
PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057460
By:
- 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.
Publication type:
Article
Sox7‐positive endothelial progenitors establish coronary arteries and govern ventricular compaction.
Published in:
EMBO Reports, 2023, v. 24, n. 10, p. 1, doi. 10.15252/embr.202255043
By:
- 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
Publication type:
Article
SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 13, p. 2152, doi. 10.1093/hmg/ddad050
By:
- Hernández-García, Andrés;
- Pendleton, Katherine E;
- Kim, Sangbae;
- Li, Yumei;
- Kim, Bum J;
- Zaveri, Hitisha P;
- Jordan, Valerie K;
- Berry, Aliska M;
- Ljungberg, M Cecilia;
- Chen, Rui;
- Lanz, Rainer B;
- Scott, Daryl A
Publication type:
Article
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 12, p. 2064, doi. 10.1093/hmg/ddy110
By:
- 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;
- Chih-Wei Hsu;
- Lashua, Amber J.;
- Suna, Xin;
- Fernandes, Caraciolo J.;
- Dickinson, Mary E.;
- Lally, Kevin P.;
- Gibbs, Richard A.
Publication type:
Article
Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 18, p. 4115, doi. 10.1093/hmg/dds241
By:
- Wat, Margaret J.;
- Beck, Tyler F.;
- Hernández-García, Andrés;
- Yu, Zhiyin;
- Veenma, Danielle;
- Garcia, Monica;
- Holder, Ashley M.;
- Wat, Jeanette J.;
- Chen, Yuqing;
- Mohila, Carrie A.;
- Lally, Kevin P.;
- Dickinson, Mary;
- Tibboel, Dick;
- de Klein, Annelies;
- Lee, Brendan;
- Scott, Daryl A.
Publication type:
Article
Efectos del sistema multifondos en el Régimen de Ahorro Individual en Colombia.
Published in:
Revista de Economía del Rosario, 2009, v. 12, n. 2, p. 179
By:
- Hernández García, Carlos Andrés
Publication type:
Article
Upstream Conserved Sequences of Mouse Leukemia Viruses Are Important for High Transgene Expression in Lymphoid and Hematopoietic Cells; Volume 6: 313–320 (2002). ; Impact of Preimmunization on Adenoviral Vector Expression and Toxicity in a Subcutaneous Mouse Cancer Model; Volume 6: 342–348 (2002).
Published in:
2002
By:
- Wahlers, Anke;
- Kustikova, Olga;
- Zipfel, Peter F.;
- Itoh, Katsuhiko;
- Koester, Markus;
- Heberlein, Christoph;
- Li, Zhixiong;
- Schiedlmeier, Bernd;
- Skerka, Christine;
- Fehse, Boris;
- Baum, Christopher;
- Vlachaki, Maria T.;
- Hernandez-Garcia, Andres;
- Ittmann, Michael;
- Chhikara, Madhu;
- Aguilar, Laura K.;
- Zhu, Xiaohong;
- Teh, Bin S.;
- Butler, E. Brian;
- Woo, Shiao
Publication type:
Correction Notice
Impact of Preimmunization on Adenoviral Vector Expression and Toxicity in a Subcutaneous Mouse Cancer Model
Published in:
Molecular Therapy, 2002, v. 6, n. 3, p. 342, doi. 10.1006/mthe.2002.0669
By:
- 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
Publication type:
Article

Found: 16

Early initiation of B‐vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.

Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans.

Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO.

FBN1 contributing to familial congenital diaphragmatic hernia.

Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.

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

Novel <i>Frem1</i>-Related Mouse Phenotypes and Evidence of Genetic Interactions with <i>Gata4</i> and <i>Slit3</i>.

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

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

SOX7 deficiency causes ventricular septal defects through its effects on endocardial-to-mesenchymal transition and the expression of Wnt4 and Bmp2.

The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.

Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.

Efectos del sistema multifondos en el Régimen de Ahorro Individual en Colombia.

Impact of Preimmunization on Adenoviral Vector Expression and Toxicity in a Subcutaneous Mouse Cancer Model