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Page 1
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
Hardcastle A, Berry AM, Campbell IM, Zhao X, Liu P, Gerard AE, Rosenfeld JA, Sisoudiya SD, Hernandez-Garcia A, Loddo S, Di Tommaso S, Novelli A, Dentici ML, Capolino R, Digilio MC, Graziani L, Rustad CF, Neas K, Ferrero GB, Brusco A, Di Gregorio E, Wellesley D, Beneteau C, Joubert M, Van Den Bogaert K, Boogaerts A, McMullan DJ, Dean J, Giuffrida MG, Bernardini L, Varghese V, Shannon NL, Harrison RE, Lam WWK, McKee S, Turnpenny PD, Cole T, Morton J, Eason J, Jones MC, Hall R, Wright M, Horridge K, Shaw CA, Chung WK, Scott DA. Hardcastle A, et al. Am J Med Genet A. 2022 Oct;188(10):2958-2968. doi: 10.1002/ajmg.a.62919. Epub 2022 Jul 29. Am J Med Genet A. 2022. PMID: 35904974 Free PMC article.
Contribution of LPP copy number and sequence changes to esophageal atresia, tracheoesophageal fistula, and VACTERL association.
Hernández-García A, Brosens E, Zaveri HP, de Jong EM, Yu Z, Namwanje M, Mayle A, Fernandes CJ, Lee B, Blazo M, Lalani SR, Tibboel D, de Klein A, Scott DA. Hernández-García A, et al. Am J Med Genet A. 2012 Jul;158A(7):1785-7. doi: 10.1002/ajmg.a.35391. Epub 2012 May 25. Am J Med Genet A. 2012. PMID: 22639458 No abstract available.
Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1.
Wat MJ, Beck TF, Hernández-García A, Yu Z, Veenma D, Garcia M, Holder AM, Wat JJ, Chen Y, Mohila CA, Lally KP, Dickinson M, Tibboel D, de Klein A, Lee B, Scott DA. Wat MJ, et al. Hum Mol Genet. 2012 Sep 15;21(18):4115-25. doi: 10.1093/hmg/dds241. Epub 2012 Jun 20. Hum Mol Genet. 2012. PMID: 22723016 Free PMC article.
FBN1 contributing to familial congenital diaphragmatic hernia.
Beck TF, Campeau PM, Jhangiani SN, Gambin T, Li AH, Abo-Zahrah R, Jordan VK, Hernandez-Garcia A, Wiszniewski WK, Muzny D, Gibbs RA, Boerwinkle E, Lupski JR, Lee B, Reardon W, Scott DA. Beck TF, et al. Am J Med Genet A. 2015 Apr;167A(4):831-6. doi: 10.1002/ajmg.a.36960. Epub 2015 Mar 3. Am J Med Genet A. 2015. PMID: 25736269 Free PMC article.
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
Fregeau B, Kim BJ, Hernández-García A, Jordan VK, Cho MT, Schnur RE, Monaghan KG, Juusola J, Rosenfeld JA, Bhoj E, Zackai EH, Sacharow S, Barañano K, Bosch DGM, de Vries BBA, Lindstrom K, Schroeder A, James P, Kulch P, Lalani SR, van Haelst MM, van Gassen KLI, van Binsbergen E, Barkovich AJ, Scott DA, Sherr EH. Fregeau B, et al. Am J Hum Genet. 2016 May 5;98(5):963-970. doi: 10.1016/j.ajhg.2016.03.002. Epub 2016 Apr 14. Am J Hum Genet. 2016. PMID: 27087320 Free PMC article.
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic hernia.
Jordan VK, Beck TF, Hernandez-Garcia A, Kundert PN, Kim BJ, Jhangiani SN, Gambin T, Starkovich M, Punetha J, Paine IS, Posey JE, Li AH, Muzny D, Hsu CW, Lashua AJ, Sun X, Fernandes CJ, Dickinson ME, Lally KP, Gibbs RA, Boerwinkle E, Lupski JR, Scott DA. Jordan VK, et al. Hum Mol Genet. 2018 Jun 15;27(12):2064-2075. doi: 10.1093/hmg/ddy110. Hum Mol Genet. 2018. PMID: 29618029 Free PMC article.
Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm.
Callaway DA, Campbell IM, Stover SR, Hernandez-Garcia A, Jhangiani SN, Punetha J, Paine IS, Posey JE, Muzny D, Lally KP, Lupski JR, Shaw CA, Fernandes CJ, Scott DA. Callaway DA, et al. J Pediatr Genet. 2018 Dec;7(4):164-173. doi: 10.1055/s-0038-1655755. Epub 2018 May 30. J Pediatr Genet. 2018. PMID: 30430034 Free PMC article.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, … See abstract for full author list ➔ Radio FC, et al. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation.
Saida K, Fukuda T, Scott DA, Sengoku T, Ogata K, Nicosia A, Hernandez-Garcia A, Lalani SR, Azamian MS, Streff H, Liu P, Dai H, Mizuguchi T, Miyatake S, Asahina M, Ogata T, Miyake N, Matsumoto N. Saida K, et al. Front Cell Dev Biol. 2021 Mar 3;9:631428. doi: 10.3389/fcell.2021.631428. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33748114 Free PMC article.
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Frénois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, McCulley DJ, Qiao L, Hernan R, Wynn J, Scott TM, Calame DG, Coban-Akdemir Z, Hernandez P, Hernandez-Garcia A, Yonath H, Lupski JR, Shen Y, Chung WK, Scott DA, Bult CJ, Donahoe PK, High FA. Petit F, et al. Among authors: hernandez garcia a. Am J Hum Genet. 2023 Oct 5;110(10):1787-1803. doi: 10.1016/j.ajhg.2023.09.002. Epub 2023 Sep 25. Am J Hum Genet. 2023. PMID: 37751738 Free PMC article.
Identification of critical regions and candidate genes for cardiovascular malformations and cardiomyopathy associated with deletions of chromosome 1p36.
Zaveri HP, Beck TF, Hernández-García A, Shelly KE, Montgomery T, van Haeringen A, Anderlid BM, Patel C, Goel H, Houge G, Morrow BE, Cheung SW, Lalani SR, Scott DA. Zaveri HP, et al. PLoS One. 2014 Jan 15;9(1):e85600. doi: 10.1371/journal.pone.0085600. eCollection 2014. PLoS One. 2014. PMID: 24454898 Free PMC article.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study; Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study; Férec C, Yang XJ… See abstract for full author list ➔ Cogné B, et al. Am J Hum Genet. 2019 Mar 7;104(3):530-541. doi: 10.1016/j.ajhg.2019.01.010. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827496 Free PMC article.
Sox7-positive endothelial progenitors establish coronary arteries and govern ventricular compaction.
Chiang IK, Humphrey D, Mills RJ, Kaltzis P, Pachauri S, Graus M, Saha D, Wu Z, Young P, Sim CB, Davidson T, Hernandez-Garcia A, Shaw CA, Renwick A, Scott DA, Porrello ER, Wong ES, Hudson JE, Red-Horse K, Del Monte-Nieto G, Francois M. Chiang IK, et al. EMBO Rep. 2023 Oct 9;24(10):e55043. doi: 10.15252/embr.202255043. Epub 2023 Aug 8. EMBO Rep. 2023. PMID: 37551717 Free PMC article.
P2Y2 purinergic receptor activation is essential for efficient hepatocyte proliferation in response to partial hepatectomy.
Tackett BC, Sun H, Mei Y, Maynard JP, Cheruvu S, Mani A, Hernandez-Garcia A, Vigneswaran N, Karpen SJ, Thevananther S. Tackett BC, et al. Am J Physiol Gastrointest Liver Physiol. 2014 Dec 1;307(11):G1073-87. doi: 10.1152/ajpgi.00092.2014. Epub 2014 Oct 9. Am J Physiol Gastrointest Liver Physiol. 2014. PMID: 25301185 Free PMC article.
[Genetic therapy of cancer].
Rojas-Martínez A, Martínez-Dávila IA, Hernández-García A, Aguilar-Córdova E, Barrera-Saldaña HA. Rojas-Martínez A, et al. Rev Invest Clin. 2002 Jan-Feb;54(1):57-67. Rev Invest Clin. 2002. PMID: 11995408 Review. Spanish.
[Advances and perspectives in molecular medicine].
Said-Fernández S, Martínez-Rodríguez HG, Said-Fernández SL, Salinas-Carmona MC, Barrera-Saldaña HA, Santillán AA, Hernández-García A, Aguilar-Córdoba E, Rojas-Martínez A, González-Salazar F. Said-Fernández S, et al. Gac Med Mex. 2000 Sep-Oct;136(5):455-75. Gac Med Mex. 2000. PMID: 11080930 Spanish. No abstract available.
ATP release after partial hepatectomy regulates liver regeneration in the rat.
Gonzales E, Julien B, Serrière-Lanneau V, Nicou A, Doignon I, Lagoudakis L, Garcin I, Azoulay D, Duclos-Vallée JC, Castaing D, Samuel D, Hernandez-Garcia A, Awad SS, Combettes L, Thevananther S, Tordjmann T. Gonzales E, et al. J Hepatol. 2010 Jan;52(1):54-62. doi: 10.1016/j.jhep.2009.10.005. Epub 2009 Oct 24. J Hepatol. 2010. PMID: 19914731 Free PMC article.
Enhancing Cognitive Functions and Neuronal Growth through NPY1R Agonist and Ketamine Co-Administration: Evidence for NPY1R-TrkB Heteroreceptor Complexes in Rats.
Arrabal-Gómez C, Beltran-Casanueva R, Hernández-García A, Bayolo-Guanche JV, Barbancho-Fernández MA, Serrano-Castro PJ, Narváez M. Arrabal-Gómez C, et al. Among authors: hernandez garcia a. Cells. 2024 Apr 12;13(8):669. doi: 10.3390/cells13080669. Cells. 2024. PMID: 38667284 Free PMC article.
Long-term enhancements in antidepressant efficacy and neurogenesis: Effects of intranasal co-administration of neuropeptide Y 1 receptor (NPY1R) and galanin receptor 2 (GALR2) agonists in the ventral hippocampus.
Beltran-Casanueva R, Hernández-García A, Serrano-Castro PJ, Sánchez-Pérez JA, Barbancho-Fernández MA, García-Casares N, Fuxe K, Borroto-Escuela DO, Narváez M. Beltran-Casanueva R, et al. Among authors: hernandez garcia a. FASEB J. 2024 Apr 15;38(7):e23595. doi: 10.1096/fj.202400087R. FASEB J. 2024. PMID: 38572811
Neuropeptide Y receptor 1 and galanin receptor 2 (NPY1R-GALR2) interactions in the dentate gyrus and their relevance for neurogenesis and cognition.
Beltran-Casanueva R, Hernández-García A, de Amo García P, Blanco-Reina E, Serrano-Castro P, García-Casares N, Fuxe K, Borroto-Escuela DO, Narváez M. Beltran-Casanueva R, et al. Among authors: hernandez garcia a. Front Cell Neurosci. 2024 Feb 14;18:1323986. doi: 10.3389/fncel.2024.1323986. eCollection 2024. Front Cell Neurosci. 2024. PMID: 38425430 Free PMC article.
Novel 2-(5-Arylthiophen-2-yl)-benzoazole Cyclometalated Iridium(III) dppz Complexes Exhibit Selective Phototoxicity in Cancer Cells by Lysosomal Damage and Oncosis.
Kasparkova J, Hernández-García A, Kostrhunova H, Goicuría M, Novohradsky V, Bautista D, Markova L, Santana MD, Brabec V, Ruiz J. Kasparkova J, et al. Among authors: hernandez garcia a. J Med Chem. 2024 Jan 11;67(1):691-708. doi: 10.1021/acs.jmedchem.3c01978. Epub 2023 Dec 23. J Med Chem. 2024. PMID: 38141031 Free PMC article.
Mutational fitness landscape of human influenza H3N2 neuraminidase.
Lei R, Hernandez Garcia A, Tan TJC, Teo QW, Wang Y, Zhang X, Luo S, Nair SK, Peng J, Wu NC. Lei R, et al. Among authors: hernandez garcia a. Cell Rep. 2023 Oct 31;42(10):113356. doi: 10.1016/j.celrep.2023.113356. Epub 2023 Oct 17. Cell Rep. 2023. PMID: 37851571 Free PMC article. No abstract available.
The presence of activating IgG Fc receptors in macrophages aggravates the development of experimental abdominal aortic aneurysm.
López-Sanz L, Bernal S, Jiménez-Castilla L, Pardines M, Hernández-García A, Blanco-Colio L, Martín-Ventura JL, Gómez Guerrero C. López-Sanz L, et al. Clin Investig Arterioscler. 2023 Jul-Aug;35(4):185-194. doi: 10.1016/j.arteri.2022.12.004. Epub 2023 Feb 1. Clin Investig Arterioscler. 2023. PMID: 36737385 English, Spanish.
Mutational fitness landscape of human influenza H3N2 neuraminidase.
Lei R, Hernandez Garcia A, Tan TJC, Teo QW, Wang Y, Zhang X, Luo S, Nair SK, Peng J, Wu NC. Lei R, et al. Cell Rep. 2023 Jan 31;42(1):111951. doi: 10.1016/j.celrep.2022.111951. Epub 2023 Jan 5. Cell Rep. 2023. PMID: 36640354 Free PMC article.
Extending resolution within a single imaging frame.
Torres-García E, Pinto-Cámara R, Linares A, Martínez D, Abonza V, Brito-Alarcón E, Calcines-Cruz C, Valdés-Galindo G, Torres D, Jabloñski M, Torres-Martínez HH, Martínez JL, Hernández HO, Ocelotl-Oviedo JP, Garcés Y, Barchi M, D'Antuono R, Bošković A, Dubrovsky JG, Darszon A, Buffone MG, Morales RR, Rendon-Mancha JM, Wood CD, Hernández-García A, Krapf D, Crevenna ÁH, Guerrero A. Torres-García E, et al. Nat Commun. 2022 Dec 2;13(1):7452. doi: 10.1038/s41467-022-34693-9. Nat Commun. 2022. PMID: 36460648 Free PMC article.
Diastereomeric Separation of Chiral fac-Tricarbonyl(iminopyridine) Rhenium(I) Complexes and Their Cytotoxicity Studies: Approach toward an Action Mechanism against Glioblastoma.
Suárez-Ortiz GA, Hernández-Correa R, Morales-Moreno MD, Toscano RA, Ramirez-Apan MT, Hernandez-Garcia A, Amézquita-Valencia M, Araiza-Olivera D. Suárez-Ortiz GA, et al. J Med Chem. 2022 Jul 14;65(13):9281-9294. doi: 10.1021/acs.jmedchem.2c00561. Epub 2022 Jul 1. J Med Chem. 2022. PMID: 35776775
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