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Year Number of Results
2010 2
2011 9
2012 4
2015 1
2020 1
2021 2
2023 3
2024 2

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23 results

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Page 1
Evidence for 28 genetic disorders discovered by combining healthcare and research data.
Kaplanis J, Samocha KE, Wiel L, Zhang Z, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG; Deciphering Developmental Disorders Study; Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Kaplanis J, et al. Nature. 2020 Oct;586(7831):757-762. doi: 10.1038/s41586-020-2832-5. Epub 2020 Oct 14. Nature. 2020. PMID: 33057194 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.
The contribution of X-linked coding variation to severe developmental disorders.
Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J; Deciphering Developmental Disorders Study; Wright CF, FitzPatrick DR, Firth HV, Hurles ME. Martin HC, et al. Nat Commun. 2021 Jan 27;12(1):627. doi: 10.1038/s41467-020-20852-3. Nat Commun. 2021. PMID: 33504798 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. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Multifaceted Strategy Based on Automated Text Messaging After a Recent Heart Failure Admission: The MESSAGE-HF Randomized Clinical Trial.
Rohde LE, Rover MM, Hoffmann Filho CR, Rabelo-Silva ER, Silvestre OM, Martins SM, Passos LCS, de Figueiredo Neto JA, Danzmann LC, Silveira FS, Mesas CE, Hernandes ME, Moura LZ, Simões MV, Ritt LEF, Nishijuka FA, Bertoldi EG, Dall Orto FTC, Magedanz EH, Mourilhe-Rocha R, Fernandes-Silva MM, Ferraz AS, Schwartzmann P, de Castilho FM, Pereira Barretto AC, Dos Santos Júnior EG, Nogueira PR, Canesin M, Beck-da-Silva L, de Carvalho Silva M, Adolfi Júnior MS, Santos RHN, Ferreira A, Pereira D, López Pedraza L, Kojima FCS, Campos V, de Barros E Silva PGM, Blacher M, Cavalcanti AB, Ramires F; MESSAGE-HF Investigators. Rohde LE, et al. JAMA Cardiol. 2024 Feb 1;9(2):105-113. doi: 10.1001/jamacardio.2023.4501. JAMA Cardiol. 2024. PMID: 38055237 Clinical Trial.
Whole genome comparison of a large collection of mycobacteriophages reveals a continuum of phage genetic diversity.
Pope WH, Bowman CA, Russell DA, Jacobs-Sera D, Asai DJ, Cresawn SG, Jacobs WR, Hendrix RW, Lawrence JG, Hatfull GF; Science Education Alliance Phage Hunters Advancing Genomics and Evolutionary Science; Phage Hunters Integrating Research and Education; Mycobacterial Genetics Course. Pope WH, et al. Elife. 2015 Apr 28;4:e06416. doi: 10.7554/eLife.06416. Elife. 2015. PMID: 25919952 Free PMC article.
Measurement of dijet azimuthal decorrelations in pp collisions at sqrt(s)=7  TeV.
Aad G, Abbott B, Abdallah J, Abdelalim AA, Abdesselam A, Abdinov O, Abi B, Abolins M, Abramowicz H, Abreu H, Acerbi E, Acharya BS, Adams DL, Addy TN, Adelman J, Aderholz M, Adomeit S, Adragna P, Adye T, Aefsky S, Aguilar-Saavedra JA, Aharrouche M, Ahlen SP, Ahles F, Ahmad A, Ahsan M, Aielli G, Akdogan T, Åkesson TP, Akimoto G, Akimov AV, Alam MS, Alam MA, Albrand S, Aleksa M, Aleksandrov IN, Aleppo M, Alessandria F, Alexa C, Alexander G, Alexandre G, Alexopoulos T, Alhroob M, Aliev M, Alimonti G, Alison J, Aliyev M, Allport PP, Allwood-Spiers SE, Almond J, Aloisio A, Alon R, Alonso A, Alviggi MG, Amako K, Amaral P, Amelung C, Ammosov VV, Amorim A, Amorós G, Amram N, Anastopoulos C, Andeen T, Anders CF, Anderson KJ, Andreazza A, Andrei V, Andrieux ML, Anduaga XS, Angerami A, Anghinolfi F, Anjos N, Annovi A, Antonaki A, Antonelli M, Antonelli S, Antonov A, Antos J, Anulli F, Aoun S, Aperio Bella L, Apolle R, Arabidze G, Aracena I, Arai Y, Arce AT, Archambault JP, Arfaoui S, Arguin JF, Arik E, Arik M, Armbruster AJ, Arnaez O, Arnault C, Artamonov A, Artoni G, Arutinov D, Asai S, Asfandiyarov R, Ask S, Åsman B, Asquith L, Assamagan K, Astbury A, Astvatsatourov A, Atoian G, Aubert B, A… See abstract for full author list ➔ Aad G, et al. Phys Rev Lett. 2011 Apr 29;106(17):172002. doi: 10.1103/PhysRevLett.106.172002. Epub 2011 Apr 29. Phys Rev Lett. 2011. PMID: 21635030 Free article.
Search for dilepton resonances in pp collisions at √s=7 TeV with the ATLAS detector.
Aad G, Abbott B, Abdallah J, Abdelalim AA, Abdesselam A, Abdinov O, Abi B, Abolins M, Abramowicz H, Abreu H, Acerbi E, Acharya BS, Adams DL, Addy TN, Adelman J, Aderholz M, Adomeit S, Adragna P, Adye T, Aefsky S, Aguilar-Saavedra JA, Aharrouche M, Ahlen SP, Ahles F, Ahmad A, Ahsan M, Aielli G, Akdogan T, Akesson TP, Akimoto G, Akimov AV, Akiyama A, Alam MS, Alam MA, Albert J, Albrand S, Aleksa M, Aleksandrov IN, Alessandria F, Alexa C, Alexander G, Alexandre G, Alexopoulos T, Alhroob M, Aliev M, Alimonti G, Alison J, Aliyev M, Allport PP, Allwood-Spiers SE, Almond J, Aloisio A, Alon R, Alonso A, Alviggi MG, Amako K, Amaral P, Amelung C, Ammosov VV, Amorim A, Amorós G, Amram N, Anastopoulos C, Ancu LS, Andari N, Andeen T, Anders CF, Anders G, Anderson KJ, Andreazza A, Andrei V, Andrieux ML, Anduaga XS, Angerami A, Anghinolfi F, Anjos N, Annovi A, Antonaki A, Antonelli M, Antonov A, Antos J, Anulli F, Aoun S, Aperio Bella L, Apolle R, Arabidze G, Aracena I, Arai Y, Arce AT, Archambault JP, Arfaoui S, Arguin JF, Arik E, Arik M, Armbruster AJ, Arnaez O, Arnault C, Artamonov A, Artoni G, Arutinov D, Asai S, Asfandiyarov R, Ask S, Asman B, Asquith L, Assamagan K, Astbury A, Astvatsatour… See abstract for full author list ➔ Aad G, et al. Phys Rev Lett. 2011 Dec 30;107(27):272002. doi: 10.1103/PhysRevLett.107.272002. Epub 2011 Dec 29. Phys Rev Lett. 2011. PMID: 22243306 Free article.
23 results