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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1948 1
1950 1
1952 5
1953 2
1956 3
1957 4
1963 1
1967 1
1972 1
1976 2
1979 2
1981 1
1982 1
1985 2
1986 2
1987 3
1988 2
1989 1
1990 2
1991 6
1992 2
1993 4
1994 4
1995 6
1996 4
1997 7
1998 6
1999 2
2000 5
2001 10
2002 7
2003 14
2004 12
2005 8
2006 18
2007 12
2008 22
2009 28
2010 18
2011 21
2012 24
2013 30
2014 32
2015 25
2016 32
2017 28
2018 24
2019 36
2020 47
2021 31
2022 26
2023 28
2024 10

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558 results

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Page 1
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, De Vries BBA, Vissers LELM, Nordenskjold M, Kvarnung M, Lindstrand A, Nordgren A, Gecz J, Iascone M, Cereda A, Scatigno A, Maitz S, Zanni G, Bertini E, Zweier C, Schuhmann S, Wiesener A, Pepper M, Panjwani H, Torti E, Abid F, Anselm I, Srivastava S, Atwal P, Bacino CA, Bhat G, Cobian K, Bird LM, Friedman J, Wright MS, Callewaert B, Petit F, Mathieu S, Afenjar A, Christensen CK, White KM, Elpeleg O, Berger I, Espineli EJ, Fagerberg C, Brasch-Andersen C, Hansen LK, Feyma T, Hughes S, Thiffault I, Sullivan B, Yan S, Keller K, Keren B, Mignot C, Kooy F, Meuwissen M, Basinger A, Kukolich M, Philips M, Ortega L, Drummond-Borg M, Lauridsen M, Sorensen K, Lehman A; CAUSES Study; Lopez-Rangel E, Levy P, Lessel D, Lotze T, Madan-Khetarpal S, Sebastian J, Vento J, Vats D, Benman LM, Mckee S, Mirzaa GM, Muss C, Pappas J, Peeters H, Romano C, Elia M, Galesi O, Simon MEH, van Gassen KLI, Simpson K, Stratton R, Syed S, Thevenon J, Palafoll IV, Vitobello A, Bournez M, Faivre L, Xia K; SPARK Consortium; Earl RK, Nowakowski T, Bernier RA, Eichler EE. Gillentine MA, et al. Among authors: ortega l. Genome Med. 2021 Apr 19;13(1):63. doi: 10.1186/s13073-021-00870-6. Genome Med. 2021. PMID: 33874999 Free PMC article.
Reply.
Barile-Fabris LA, Ortega LA, Friedmman DX. Barile-Fabris LA, et al. Among authors: ortega la. Reumatol Clin (Engl Ed). 2020 Sep-Oct;16(5 Pt 2):434-435. doi: 10.1016/j.reuma.2018.11.012. Epub 2019 Feb 2. Reumatol Clin (Engl Ed). 2020. PMID: 30718166 Free article. English, Spanish. No abstract available.
Paralog Studies Augment Gene Discovery: DDX and DHX Genes.
Paine I, Posey JE, Grochowski CM, Jhangiani SN, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung WL, Wong BKY, Ortega L, Bekheirnia MR, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White JJ, Wilichowski E, Wortmann SB, Casella EB, Kitajima JP, Kok F, Monteiro F, Muzny DM, Bamshad M, Gibbs RA, Sutton VR; University of Washington Center for Mendelian Genomics, Baylor-Hopkins Center for Mendelian Genomics, Telethon Undiagnosed Diseases Program; Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver IB, Glass I, Lessel D, Lyon GJ, Lupski JR. Paine I, et al. Among authors: ortega l. Am J Hum Genet. 2019 Aug 1;105(2):302-316. doi: 10.1016/j.ajhg.2019.06.001. Epub 2019 Jun 27. Am J Hum Genet. 2019. PMID: 31256877 Free PMC article.
Functional Engagement of the PD-1/PD-L1 Complex But Not PD-L1 Expression Is Highly Predictive of Patient Response to Immunotherapy in Non-Small-Cell Lung Cancer.
Sánchez-Magraner L, Gumuzio J, Miles J, Quimi N, Martínez Del Prado P, Abad-Villar MT, Pikabea F, Ortega L, Etxezarraga C, Martín-Algarra S, Lozano MD, Saiz-Camin M, Egurrola-Izquierdo M, Barredo-Santamaría I, Saiz-López A, Gomez-Mediavilla J, Segues-Merino N, Juaristi-Abaunz MA, Urruticoechea A, Geraedts EJ, van Elst K, Claessens NJM, Italiano A, Applebee CJ, Del Castillo S, Evans C, Aguirre F, Parker PJ, Calleja V. Sánchez-Magraner L, et al. Among authors: ortega l. J Clin Oncol. 2023 May 10;41(14):2561-2570. doi: 10.1200/JCO.22.01748. Epub 2023 Feb 23. J Clin Oncol. 2023. PMID: 36821809 Free PMC article.
Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, Ichikawa S, Nava C, Keren B, Charles P, Marey I, Tabet AC, Levy J, Perrin L, Hartmann A, Lesca G, Schluth-Bolard C, Monin P, Dupuis-Girod S, Guillen Sacoto MJ, Schnur RE, Zhu Z, Poisson A, El Chehadeh S, Alembik Y, Bruel AL, Lehalle D, Nambot S, Moutton S, Odent S, Jaillard S, Dubourg C, Hilhorst-Hofstee Y, Barbaro-Dieber T, Ortega L, Bhoj EJ, Masser-Frye D, Bird LM, Lindstrom K, Ramsey KM, Narayanan V, Fassi E, Willing M, Cole T, Salter CG, Akilapa R, Vandersteen A, Canham N, Rump P, Gerkes EH, Klein Wassink-Ruiter JS, Bijlsma E, Hoffer MJV, Vargas M, Wojcik A, Cherik F, Francannet C, Rosenfeld JA, Machol K, Scott DA, Bacino CA, Wang X, Clark GD, Bertoli M, Zwolinski S, Thomas RH, Akay E, Chang RC, Bressi R, Sanchez Russo R, Srour M, Russell L, Goyette AE, Dupuis L, Mendoza-Londono R, Karimov C, Joseph M, Nizon M, Cogné B, Kuechler A, Piton A; Deciphering Developmental Disorder Study; Klee EW, Lefebvre V, Clark KJ, Depienne C. Zawerton A, et al. Among authors: ortega l. Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3. Genet Med. 2020. PMID: 31578471 Free PMC article.
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Among authors: ortega l. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
FOLFOXIRI plus biologics in advanced colorectal cancer.
García-Alfonso P, Torres G, García G, Gallego I, Ortega L, Sandoval C, Muñoz A, Lloansí A. García-Alfonso P, et al. Among authors: ortega l. Expert Opin Biol Ther. 2019 May;19(5):411-422. doi: 10.1080/14712598.2019.1595580. Epub 2019 Mar 27. Expert Opin Biol Ther. 2019. PMID: 30887844 Review.
Deprescribing of non-antiretroviral therapy in HIV-infected patients.
Blanco JR, Morillo R, Abril V, Escobar I, Bernal E, Folguera C, Brañas F, Gimeno M, Ibarra O, Iribarren JA, Lázaro A, Mariño A, Martín MT, Martinez E, Ortega L, Olalla J, Robustillo A, Sanchez-Conde M, Rodriguez MA, de la Torre J, Sanchez-Rubio J, Tuset M; Gesida and SEFH. Blanco JR, et al. Among authors: ortega l. Eur J Clin Pharmacol. 2020 Mar;76(3):305-318. doi: 10.1007/s00228-019-02785-z. Epub 2019 Dec 21. Eur J Clin Pharmacol. 2020. PMID: 31865412 Review.
1.2-kW all-fiber Yb-doped multicore fiber amplifier.
Ortega LF, Feigenson T, Tam YW, Reeves-Hall P, Fan TY, Messerly M, Yu CX, Hong KH. Ortega LF, et al. Opt Lett. 2023 Feb 1;48(3):712-714. doi: 10.1364/OL.478436. Opt Lett. 2023. PMID: 36723570
558 results