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Year Number of Results
1871 1
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1880 1
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1895 1
1912 1
1950 1
1958 1
1959 1
1960 3
1962 4
1963 2
1964 3
1965 5
1966 2
1967 3
1968 6
1969 9
1970 9
1971 8
1972 14
1973 9
1974 13
1975 8
1976 3
1977 2
1978 1
1979 1
1980 1
1981 3
1982 4
1984 1
1986 2
1987 2
1989 7
1990 2
1991 2
1992 1
1993 2
1994 1
1998 1
2000 2
2001 4
2002 5
2003 3
2005 2
2006 3
2007 1
2008 1
2010 1
2011 1
2012 2
2013 1
2014 1
2016 1
2017 2
2018 6
2019 5
2020 6
2021 3
2022 5
2023 13
2024 14
2025 15

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232 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: snow h. 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.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB, Arts P, Ha TT, Kassahn KS, Pais LS, O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics; Babic M, Frank MSB, Feng J, Wang P, Lawrence DM, Eshraghi L, Arriola L, Toubia J, Nguyen H; Genomic Autopsy Study Research Network; McGillivray G, Pinner J, McKenzie F, Morrow R, Lipsett J, Manton N, Khong TY, Moore L, Liebelt JE, Schreiber AW, King-Smith SL, Hardy TSE, Jackson MR, Barnett CP, Scott HS. Byrne AB, et al. Nat Med. 2023 Jan;29(1):180-189. doi: 10.1038/s41591-022-02142-1. Epub 2023 Jan 19. Nat Med. 2023. PMID: 36658419 Free PMC article.
GREGoR: accelerating genomics for rare diseases.
Dawood M, Heavner B, Wheeler MM, Ungar RA, LoTempio J, Wiel L, Berger S, Bernstein JA, Chong JX, Délot EC, Eichler EE, Lupski JR, Shojaie A, Talkowski ME, Wagner AH, Wei CL, Wellington C, Wheeler MT; GREGoR Partner Members; Carvalho CMB, Gibbs RA, Gifford CA, May S, Miller DE, Rehm HL, Samocha KE, Sedlazeck FJ, Vilain E, O'Donnell-Luria A, Posey JE, Chadwick LH, Bamshad MJ, Montgomery SB; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium. Dawood M, et al. Nature. 2025 Nov;647(8089):331-342. doi: 10.1038/s41586-025-09613-8. Epub 2025 Nov 12. Nature. 2025. PMID: 41224980
Management of Primary Retroperitoneal Sarcoma (RPS) in the Adult: An Updated Consensus Approach from the Transatlantic Australasian RPS Working Group.
Swallow CJ, Strauss DC, Bonvalot S, Rutkowski P, Desai A, Gladdy RA, Gonzalez R, Gyorki DE, Fairweather M, van Houdt WJ, Stoeckle E, Park JB, Albertsmeier M, Nessim C, Cardona K, Fiore M, Hayes A, Tzanis D, Skoczylas J, Ford SJ, Ng D, Mullinax JE, Snow H, Haas RL, Callegaro D, Smith MJ, Bouhadiba T, Stacchiotti S, Jones RL, DeLaney T, Roland CL, Raut CP, Gronchi A; Transatlantic Australasian RPS Working Group (TARPSWG). Swallow CJ, et al. Among authors: snow h. Ann Surg Oncol. 2021 Nov;28(12):7873-7888. doi: 10.1245/s10434-021-09654-z. Epub 2021 Apr 14. Ann Surg Oncol. 2021. PMID: 33852100 Free PMC article.
Clinical outcomes of pediatric osteomyelitis.
Disch K, Hill DA, Snow H, Dehority W. Disch K, et al. Among authors: snow h. BMC Pediatr. 2023 Feb 3;23(1):54. doi: 10.1186/s12887-023-03863-z. BMC Pediatr. 2023. PMID: 36732705 Free PMC article.
Anaesthesia for isolated limb perfusion.
Allen C, Kusre S, Snow H, Poulton T. Allen C, et al. Among authors: snow h. BJA Educ. 2025 Apr;25(4):155-162. doi: 10.1016/j.bjae.2024.12.002. Epub 2025 Feb 6. BJA Educ. 2025. PMID: 40161485 Review. No abstract available.
Plasma AR Alterations and Timing of Intensified Hormone Treatment for Prostate Cancer: the STAMPEDE Phase 3 Randomized Clinical Trial.
Leone G, Orlando F, Dutey-Magni P, Vainauskas O, Grist E, Ciani Y, Lall S, Thakali S, Wingate A, Wetterskog D, Sachdeva A, Sydes MR, McPhail N, Sreenivasan T, O'Sullivan JM, Clarke NW, Parmar MKB, Brown LC, James ND, Demichelis F, Attard G; STAMPEDE collaborators. Leone G, et al. JAMA Oncol. 2025 Feb 27;11(4):426-9. doi: 10.1001/jamaoncol.2024.7051. Online ahead of print. JAMA Oncol. 2025. PMID: 40014335
Global Variations in Patterns of Care for Retroperitoneal Sarcoma.
Snow H, Fiore M, Xie J, Strauss D, Tzanis D, Raut CP, Rutkowski P, Ford S, Swallow C, van Houdt WJ, Albertsmeier M, Cananzi F, Sicklick J, Cardona K, Grignol V, Nessim C, Nizri E, Novak M, Pennacchioli E, Valeri S, Callegaro D, Wilkinson M, Bonvalot S, Fairweather M, Skoczylas J, Tirotta F, Shapiro J, Angele MK, Gronchi A, Gyorki DE; Transatlantic Australasian Retroperitoneal Sarcoma Working Group. Snow H, et al. Ann Surg. 2025 Jun 16. doi: 10.1097/SLA.0000000000006791. Online ahead of print. Ann Surg. 2025. PMID: 40519020
232 results