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

Results by year

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

Year Number of Results
1993 1
1994 1
1995 1
2004 1
2006 1
2007 1
2008 1
2009 1
2011 1
2012 1
2013 1
2014 2
2016 2
2017 5
2019 4
2020 7
2022 3
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

34 results

Results by year

Filters applied: . Clear all
Page 1
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro E, Astle WJ, Megy K, Gräf S, Greene D, Shamardina O, Allen HL, Sanchis-Juan A, Frontini M, Thys C, Stephens J, Mapeta R, Burren OS, Downes K, Haimel M, Tuna S, Deevi SVV, Aitman TJ, Bennett DL, Calleja P, Carss K, Caulfield MJ, Chinnery PF, Dixon PH, Gale DP, James R, Koziell A, Laffan MA, Levine AP, Maher ER, Markus HS, Morales J, Morrell NW, Mumford AD, Ormondroyd E, Rankin S, Rendon A, Richardson S, Roberts I, Roy NBA, Saleem MA, Smith KGC, Stark H, Tan RYY, Themistocleous AC, Thrasher AJ, Watkins H, Webster AR, Wilkins MR, Williamson C, Whitworth J, Humphray S, Bentley DR; NIHR BioResource for the 100,000 Genomes Project; Kingston N, Walker N, Bradley JR, Ashford S, Penkett CJ, Freson K, Stirrups KE, Raymond FL, Ouwehand WH. Turro E, et al. Nature. 2020 Jul;583(7814):96-102. doi: 10.1038/s41586-020-2434-2. Epub 2020 Jun 24. Nature. 2020. PMID: 32581362 Free PMC article.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
A Female-Specific Role for Calcitonin Gene-Related Peptide (CGRP) in Rodent Pain Models.
Paige C, Plasencia-Fernandez I, Kume M, Papalampropoulou-Tsiridou M, Lorenzo LE, David ET, He L, Mejia GL, Driskill C, Ferrini F, Feldhaus AL, Garcia-Martinez LF, Akopian AN, De Koninck Y, Dussor G, Price TJ. Paige C, et al. Among authors: lorenzo le. J Neurosci. 2022 Mar 9;42(10):1930-1944. doi: 10.1523/JNEUROSCI.1137-21.2022. Epub 2022 Jan 20. J Neurosci. 2022. PMID: 35058371 Free PMC article.
Switch of serotonergic descending inhibition into facilitation by a spinal chloride imbalance in neuropathic pain.
Aby F, Lorenzo LE, Grivet Z, Bouali-Benazzouz R, Martin H, Valerio S, Whitestone S, Isabel D, Idi W, Bouchatta O, De Deurwaerdere P, Godin AG, Herry C, Fioramonti X, Landry M, De Koninck Y, Fossat P. Aby F, et al. Among authors: lorenzo le. Sci Adv. 2022 Jul 29;8(30):eabo0689. doi: 10.1126/sciadv.abo0689. Epub 2022 Jul 27. Sci Adv. 2022. PMID: 35895817 Free PMC article.
Live single-cell laser tag.
Binan L, Mazzaferri J, Choquet K, Lorenzo LE, Wang YC, Affar EB, De Koninck Y, Ragoussis J, Kleinman CL, Costantino S. Binan L, et al. Among authors: lorenzo le. Nat Commun. 2016 May 20;7:11636. doi: 10.1038/ncomms11636. Nat Commun. 2016. PMID: 27198043 Free PMC article.
Germline selection shapes human mitochondrial DNA diversity.
Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell NW, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AOM, Williamson C; NIHR BioResource–Rare Diseases; 100,000 Genomes Project–Rare Diseases Pilot; Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF. Wei W, et al. Science. 2019 May 24;364(6442):eaau6520. doi: 10.1126/science.aau6520. Epub 2019 May 23. Science. 2019. PMID: 31123110 Free article.
Sortilin gates neurotensin and BDNF signaling to control peripheral neuropathic pain.
Richner M, Pallesen LT, Ulrichsen M, Poulsen ET, Holm TH, Login H, Castonguay A, Lorenzo LE, Gonçalves NP, Andersen OM, Lykke-Hartmann K, Enghild JJ, Rønn LCB, Malik IJ, De Koninck Y, Bjerrum OJ, Vægter CB, Nykjær A. Richner M, et al. Among authors: lorenzo le. Sci Adv. 2019 Jun 19;5(6):eaav9946. doi: 10.1126/sciadv.aav9946. eCollection 2019 Jun. Sci Adv. 2019. PMID: 31223654 Free PMC article.
34 results