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

Year Number of Results
1959 3
1960 2
1962 2
1963 2
1964 1
1965 4
1966 2
1967 2
1968 2
1970 2
1973 1
1977 1
1979 3
1980 2
1981 1
1984 3
1985 4
1986 5
1987 12
1988 11
1989 10
1990 6
1991 7
1992 12
1993 11
1994 14
1995 24
1996 25
1997 18
1998 14
1999 19
2000 11
2001 22
2002 18
2003 26
2004 26
2005 23
2006 22
2007 42
2008 38
2009 40
2010 38
2011 38
2012 46
2013 52
2014 45
2015 26
2016 33
2017 39
2018 38
2019 32
2020 36
2021 53
2022 44
2023 66
2024 74
2025 5

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1,069 results

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Page 1
Genome Sequencing for Diagnosing Rare Diseases.
Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. Wojcik MH, et al. Among authors: chao kr. N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761. N Engl J Med. 2024. PMID: 38838312 Free PMC article.
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis.
Mohassel P, Donkervoort S, Lone MA, Nalls M, Gable K, Gupta SD, Foley AR, Hu Y, Saute JAM, Moreira AL, Kok F, Introna A, Logroscino G, Grunseich C, Nickolls AR, Pourshafie N, Neuhaus SB, Saade D, Gangfuß A, Kölbel H, Piccus Z, Le Pichon CE, Fiorillo C, Ly CV, Töpf A, Brady L, Specht S, Zidell A, Pedro H, Mittelmann E, Thomas FP, Chao KR, Konersman CG, Cho MT, Brandt T, Straub V, Connolly AM, Schara U, Roos A, Tarnopolsky M, Höke A, Brown RH, Lee CH, Hornemann T, Dunn TM, Bönnemann CG. Mohassel P, et al. Among authors: chao kr. Nat Med. 2021 Jul;27(7):1197-1204. doi: 10.1038/s41591-021-01346-1. Epub 2021 May 31. Nat Med. 2021. PMID: 34059824 Free PMC article.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Among authors: chao kr. Am J Hum Genet. 2024 May 2;111(5):863-876. doi: 10.1016/j.ajhg.2024.03.008. Epub 2024 Apr 1. Am J Hum Genet. 2024. PMID: 38565148 Free PMC article.
Chemotherapy-induced gonadotoxicity.
Wang PH, Chao HT, Chao KC. Wang PH, et al. Among authors: chao kc. Taiwan J Obstet Gynecol. 2010 Mar;49(1):1-2. doi: 10.1016/S1028-4559(10)60001-0. Taiwan J Obstet Gynecol. 2010. PMID: 20466285 Free article. No abstract available.
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG, Bryen SJ, Bahlo M, Cairns A, Chao KR, Corbett A, Davis MR, Ganesh VS, Ghaoui R, Jones KJ, Kornberg AJ, Lek M, Liang C, MacArthur DG, Oates EC, O'Donnell-Luria A, O'Grady GL, Osei-Owusu IA, Rafehi H, Reddel SW, Roxburgh RH, Ryan MM, Sandaradura SA, Scott LW, Valkanas E, Weisburd B, Young H, Evesson FJ, Waddell LB, Cooper ST. Marchant RG, et al. Among authors: chao kr. Ann Clin Transl Neurol. 2024 May;11(5):1250-1266. doi: 10.1002/acn3.52041. Epub 2024 Mar 27. Ann Clin Transl Neurol. 2024. PMID: 38544359 Free PMC article.
Laparoscopic myomectomy.
Yen MS, Chao KC, Wang PH. Yen MS, et al. Among authors: chao kc. Taiwan J Obstet Gynecol. 2010 Sep;49(3):392-3. doi: 10.1016/S1028-4559(10)60086-1. Taiwan J Obstet Gynecol. 2010. PMID: 21056336 Free article. No abstract available.
Current imaging paradigms in radiation oncology.
Apisarnthanarax S, Chao KS. Apisarnthanarax S, et al. Among authors: chao ks. Radiat Res. 2005 Jan;163(1):1-25. doi: 10.1667/rr3279. Radiat Res. 2005. PMID: 15606303 Review.
Unexpected Liver Lesions in Crohn's Disease.
Tang J, Huang Z, Guo H, Chao K, Gao X. Tang J, et al. Among authors: chao k. Inflamm Bowel Dis. 2021 Nov 15;27(12):e161-e162. doi: 10.1093/ibd/izab186. Inflamm Bowel Dis. 2021. PMID: 34319379 No abstract available.
1,069 results