Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

8,818 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Zhang X, Ling J, Barcia G, Jing L, Wu J, Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q, Poduri A, Partlow JN, Ville D, Dulac O, Yu TW, Lam AT, Servattalab S, Rodriguez J, Boddaert N, Munnich A, Colleaux L, Zon LI, Söll D, Walsh CA, Nabbout R. Zhang X, et al. Among authors: rodriguez j. Am J Hum Genet. 2014 Apr 3;94(4):547-58. doi: 10.1016/j.ajhg.2014.03.003. Epub 2014 Mar 20. Am J Hum Genet. 2014. PMID: 24656866 Free PMC article.
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA. Manzini MC, et al. Among authors: rodriguez j. Am J Hum Genet. 2012 Sep 7;91(3):541-7. doi: 10.1016/j.ajhg.2012.07.009. Am J Hum Genet. 2012. PMID: 22958903 Free PMC article.
Using whole-exome sequencing to identify inherited causes of autism.
Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D'Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA. Yu TW, et al. Among authors: rodriguez j. Neuron. 2013 Jan 23;77(2):259-73. doi: 10.1016/j.neuron.2012.11.002. Neuron. 2013. PMID: 23352163 Free PMC article.
Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK; DDD Study; Homozygosity Mapping Collaborative for Autism; UK10K Consortium; Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. De Rubeis S, et al. Nature. 2014 Nov 13;515(7526):209-15. doi: 10.1038/nature13772. Epub 2014 Oct 29. Nature. 2014. PMID: 25363760 Free PMC article.
Ataxia-telangiectasia in Latin America: clinical features, immunodeficiency, and mortality in a multicenter study.
Pereira RA, Dantas EO, Loekmanwidjaja J, Mazzucchelli JTL, Aranda CS, Serrano MEG, De La Cruz Córdoba EA, Bezrodnik L, Moreira I, Ferreira JFS, Dantas VM, Sales VSF, Fernandez CC, Vilela MMS, Motta IP, Franco JL, Arango JCO, Álvarez-Álvarez JA, Cardozo LRR, Orellana JC, Condino-Neto A, Kokron CM, Barros MT, Regairaz L, Cabanillas D, Suarez CLN, Rosario NA, Chong-Neto HJ, Takano OA, Nadaf MISV, Moraes LSL, Tavares FS, Rabelo F, Pino J, Calderon WC, Mendoza-Quispe D, Goudouris ES, Patiño V, Montenegro C, Souza MS, Branco AB, Forte WCN, Carvalho FAA, Segundo G, Cheik MFA, Roxo-Junior P, Peres M, Oliveira AM, Neto ACP, Ortega-López MC, Lozano A, Lozano NA, Nieto LH, Grumach AS, Costa DC, Antunes NMN, Nudelman V, Pereira CTM, Martinez MDM, Quiroz FJR, Cardona AA, Nuñez-Nuñez ME, Rodriguez JA, Cuellar CM, Vijoditz G, Bichuetti-Silva DC, Prando CCM, Amantéa SL, Costa-Carvalho BT. Pereira RA, et al. Among authors: rodriguez ja. Immunol Res. 2024 Jun 4. doi: 10.1007/s12026-024-09494-5. Online ahead of print. Immunol Res. 2024. PMID: 38834764
The BTLA-HVEM axis restricts CAR T cell efficacy in cancer.
Guruprasad P, Carturan A, Zhang Y, Cho JH, Kumashie KG, Patel RP, Kim KH, Lee JS, Lee Y, Kim JH, Chung J, Joshi A, Cohen I, Shestov M, Ghilardi G, Harris J, Pajarillo R, Angelos M, Lee YG, Liu S, Rodriguez J, Wang M, Ballard HJ, Gupta A, Ugwuanyi OH, Hong SJA, Bochi-Layec AC, Sauter CT, Chen L, Paruzzo L, Kammerman S, Shestova O, Liu D, Vella LA, Schuster SJ, Svoboda J, Porazzi P, Ruella M. Guruprasad P, et al. Among authors: rodriguez j. Nat Immunol. 2024 Jun;25(6):1020-1032. doi: 10.1038/s41590-024-01847-4. Epub 2024 Jun 3. Nat Immunol. 2024. PMID: 38831106
Alternative CNDOL Fockians for fast and accurate description of molecular exciton properties.
Montero-Cabrera LA, Montero-Alejo AL, Aspuru-Guzik A, García de la Vega JM, Piris M, Díaz-Fernández LA, Pérez-Badell Y, Guerra-Barroso A, Alfonso-Ramos JE, Rodríguez J, Fuentes ME, de Armas CM. Montero-Cabrera LA, et al. Among authors: rodriguez j. J Chem Phys. 2024 Jun 7;160(21):214108. doi: 10.1063/5.0208809. J Chem Phys. 2024. PMID: 38828812
8,818 results