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
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 15

Text availability

Article attribute

Article type

Publication date

Search Results

539 results

Results by year

Filters applied: . Clear all
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.
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF, Campbell P, Eberhardt RY, Aitken S, Perrett D, Brent S, Danecek P, Gardner EJ, Chundru VK, Lindsay SJ, Andrews K, Hampstead J, Kaplanis J, Samocha KE, Middleton A, Foreman J, Hobson RJ, Parker MJ, Martin HC, FitzPatrick DR, Hurles ME, Firth HV; DDD Study. Wright CF, et al. N Engl J Med. 2023 Apr 27;388(17):1559-1571. doi: 10.1056/NEJMoa2209046. Epub 2023 Apr 12. N Engl J Med. 2023. PMID: 37043637 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.
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.
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.
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.
The most important outcome.
Clement E. Clement E. CMAJ. 2023 Jun 5;195(22):E787-E788. doi: 10.1503/cmaj.221721. CMAJ. 2023. PMID: 37277128 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
Dystroglycanopathies: coming into focus.
Godfrey C, Foley AR, Clement E, Muntoni F. Godfrey C, et al. Among authors: clement e. Curr Opin Genet Dev. 2011 Jun;21(3):278-85. doi: 10.1016/j.gde.2011.02.001. Epub 2011 Mar 11. Curr Opin Genet Dev. 2011. PMID: 21397493 Review.
539 results