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Year Number of Results
1987 1
1988 1
1989 1
1991 1
1992 1
1994 1
1995 1
2000 2
2002 4
2003 1
2004 3
2007 2
2008 3
2009 6
2010 5
2011 1
2012 5
2013 4
2014 6
2015 5
2016 12
2017 8
2018 11
2019 10
2020 6
2021 12
2022 12
2023 17
2024 5

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128 results

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Page 1
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, … See abstract for full author list ➔ Cogné B, et al. Among authors: hernandez garcia a. 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.
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, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: hernandez garcia a. 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.
Strategies to Build Hybrid Protein-DNA Nanostructures.
Hernandez-Garcia A. Hernandez-Garcia A. Nanomaterials (Basel). 2021 May 18;11(5):1332. doi: 10.3390/nano11051332. Nanomaterials (Basel). 2021. PMID: 34070149 Free PMC article. Review.
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. Among authors: hernandez garcia a. 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.
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.
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. Among authors: hernandez garcia a. Nat Commun. 2022 Dec 2;13(1):7452. doi: 10.1038/s41467-022-34693-9. Nat Commun. 2022. PMID: 36460648 Free PMC article.
Global visual salience of competing stimuli.
Hernández-García A, Ramos Gameiro R, Grillini A, König P. Hernández-García A, et al. J Vis. 2020 Jul 1;20(7):27. doi: 10.1167/jov.20.7.27. J Vis. 2020. PMID: 32720973 Free PMC article.
Fullerenes in Biology and Medicine.
Castro E, Hernandez Garcia A, Zavala G, Echegoyen L. Castro E, et al. Among authors: hernandez garcia a. J Mater Chem B. 2017;5(32):6523-6535. doi: 10.1039/C7TB00855D. Epub 2017 Jul 8. J Mater Chem B. 2017. PMID: 29225883 Free PMC article.
128 results