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

Year Number of Results
1967 1
1969 1
1970 1
1972 1
1974 1
1975 2
1976 1
1977 2
1978 2
1980 1
1981 1
1983 2
1985 1
1986 1
1988 1
1989 3
1991 1
1992 1
1993 2
1994 6
1995 2
1996 4
1997 1
1998 3
1999 1
2000 2
2001 4
2002 1
2003 3
2004 5
2005 2
2006 4
2007 10
2008 10
2009 6
2010 7
2011 28
2012 20
2013 20
2014 25
2015 35
2016 33
2017 34
2018 53
2019 48
2020 45
2021 33
2022 32
2023 42
2024 35

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559 results

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Page 1
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Among authors: clement e. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Barrett T, McMullen DJ, Smith A, Deshpande C, Smithson SF, Festenstein R, Canham N, Caulfield M, Houlden H, Rahman S, Chinnery PF; Genomics England Research Consortium. Schon KR, et al. Among authors: clement e. BMJ. 2021 Nov 3;375:e066288. doi: 10.1136/bmj-2021-066288. BMJ. 2021. PMID: 34732400 Free PMC article. Clinical Trial.
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, Hehir-Kwa J, Willems M, Capri Y, Mehta SG, Cox H, Goudie D, Vansenne F, Turnpenny P, Vincent M, Cogné B, Lesca G, Hertecant J, Rodriguez D, Keren B, Burglen L, Gérard M, Putoux A; C4RCD Research Group; Cantagrel V, Siquier-Pernet K, Rio M, Banka S, Sarkar A, Steeves M, Parker M, Clement E, Moutton S, Tran Mau-Them F, Piton A, de Vries BBA, Guille M, Debant A, Schmidt S, Baralle D. Barbosa S, et al. Among authors: clement e. Am J Hum Genet. 2020 Mar 5;106(3):338-355. doi: 10.1016/j.ajhg.2020.01.018. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109419 Free PMC article.
Evaluation of Outcomes Among Patients With Traumatic Intracranial Hypertension Treated With Decompressive Craniectomy vs Standard Medical Care at 24 Months: A Secondary Analysis of the RESCUEicp Randomized Clinical Trial.
Kolias AG, Adams H, Timofeev IS, Corteen EA, Hossain I, Czosnyka M, Timothy J, Anderson I, Bulters DO, Belli A, Eynon CA, Wadley J, Mendelow AD, Mitchell PM, Wilson MH, Critchley G, Sahuquillo J, Unterberg A, Posti JP, Servadei F, Teasdale GM, Pickard JD, Menon DK, Murray GD, Kirkpatrick PJ, Hutchinson PJ; RESCUEicp Trial Collaborators. Kolias AG, et al. JAMA Neurol. 2022 Jul 1;79(7):664-671. doi: 10.1001/jamaneurol.2022.1070. JAMA Neurol. 2022. PMID: 35666526 Free PMC article. Clinical Trial.
2023 Canadian Surgery Forum: Sept. 20-23, 2023.
Brière R, Émond M, Benhamed A, Blanchard PG, Drolet S, Habashi R, Golbon B, Shellenberger J, Pasternak J, Merchant S, Shellenberger J, La J, Sawhney M, Brogly S, Cadili L, Horkoff M, Ainslie S, Demetrick J, Chai B, Wiseman K, Hwang H, Alhumoud Z, Salem A, Lau R, Aw K, Nessim C, Gawad N, Alibhai K, Towaij C, Doan D, Raîche I, Valji R, Turner S, Balmes PN, Hwang H, Hameed SM, Tan JGK, Wijesuriya R, Tan JGK, Hew NLC, Wijesuriya R, Lund M, Hawel J, Gregor J, Leslie K, Lenet T, McIsaac D, Hallet J, Jerath A, Lalu M, Nicholls S, Presseau J, Tinmouth A, Verret M, Wherrett C, Fergusson D, Martel G, Sharma S, McKechnie T, Talwar G, Patel J, Heimann L, Doumouras A, Hong D, Eskicioglu C, Wang C, Guo M, Huang L, Sun S, Davis N, Wang J, Skulsky S, Sikora L, Raîche I, Son HJ, Gee D, Gomez D, Jung J, Selvam R, Seguin N, Zhang L, Lacaille-Ranger A, Sikora L, McIsaac D, Moloo H, Follett A, Holly, Organ M, Pace D, Balvardi S, Kaneva P, Semsar-Kazerooni K, Mueller C, Vassiliou M, Al Mahroos M, Fiore JF Jr, Schwartzman K, Feldman L, Guo M, Karimuddin A, Liu GP, Crump T, Sutherland J, Hickey K, Bonisteel EM, Umali J, Dogar I, Warden G, Boone D, Mathieson A, Hogan M, Pace D, Seguin N, Moloo H, Li Y, Be… See abstract for full author list ➔ Brière R, et al. Among authors: clement e. Can J Surg. 2023 Dec 13;66(6 Suppl 1):S54-S136. doi: 10.1503/cjs.014223. Print 2023 Nov-Dec. Can J Surg. 2023. PMID: 38173057 Free PMC article. No abstract available.
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. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-Melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, McTague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-Londono R, Dudding-Byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz MA, Piton A, Gerard B, Abi Warde MT, Rea G, McKenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, McWalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, Kalscheuer VM. Palmer EE, et al. Among authors: clement e. Mol Psychiatry. 2023 Feb;28(2):668-697. doi: 10.1038/s41380-022-01852-9. Epub 2022 Nov 16. Mol Psychiatry. 2023. PMID: 36385166 Free PMC article.
Evidence for the Higgs Boson Decay to a Z Boson and a Photon at the LHC.
Aad G, Abbott B, Abeling K, Abicht NJ, Abidi SH, Aboulhorma A, Abramowicz H, Abreu H, Abulaiti Y, Acharya BS, Adam Bourdarios C, Adamczyk L, Adamek L, Addepalli SV, Addison MJ, Adelman J, Adiguzel A, Adye T, Affolder AA, Afik Y, Agaras MN, Agarwala J, Aggarwal A, Agheorghiesei C, Ahmad A, Ahmadov F, Ahmed WS, Ahuja S, Ai X, Aielli G, Aikot A, Ait Tamlihat M, Aitbenchikh B, Aizenberg I, Akbiyik M, Åkesson TPA, Akimov AV, Akiyama D, Akolkar NN, Al Khoury K, Alberghi GL, Albert J, Albicocco P, Albouy GL, Alderweireldt S, Aleksa M, Aleksandrov IN, Alexa C, Alexopoulos T, Alfonsi F, Algren M, Alhroob M, Ali B, Ali HMJ, Ali S, Alibocus SW, Aliev M, Alimonti G, Alkakhi W, Allaire C, Allbrooke BMM, Allen JF, Allendes Flores CA, Allport PP, Aloisio A, Alonso F, Alpigiani C, Alvarez Estevez M, Alvarez Fernandez A, Alves Cardoso M, Alviggi MG, Aly M, Amaral Coutinho Y, Ambler A, Amelung C, Amerl M, Ames CG, Amidei D, Amor Dos Santos SP, Amos KR, Ananiev V, Anastopoulos C, Andeen T, Anders JK, Andrean SY, Andreazza A, Angelidakis S, Angerami A, Anisenkov AV, Annovi A, Antel C, Anthony MT, Antipov E, Antonelli M, Anulli F, Aoki M, Aoki T, Aparisi Pozo JA, Aparo MA, Aperio Bella L, Appelt C, Ap… See abstract for full author list ➔ Aad G, et al. Phys Rev Lett. 2024 Jan 12;132(2):021803. doi: 10.1103/PhysRevLett.132.021803. Phys Rev Lett. 2024. PMID: 38277607 Free article.
Obesity and melanoma: could fat be fueling malignancy?
Clement E, Lazar I, Muller C, Nieto L. Clement E, et al. Pigment Cell Melanoma Res. 2017 May;30(3):294-306. doi: 10.1111/pcmr.12584. Epub 2017 Apr 20. Pigment Cell Melanoma Res. 2017. PMID: 28222242 Review.
559 results