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

Year Number of Results
1947 1
1948 3
1949 2
1952 4
1953 3
1954 5
1955 3
1956 2
1957 7
1958 3
1960 2
1962 3
1963 1
1964 6
1965 1
1966 3
1967 8
1968 9
1969 6
1970 11
1971 19
1972 26
1973 14
1974 9
1975 16
1976 26
1977 26
1978 15
1979 16
1980 21
1981 10
1982 19
1983 21
1984 30
1985 21
1986 27
1987 31
1988 23
1989 24
1990 33
1991 46
1992 34
1993 42
1994 37
1995 40
1996 37
1997 40
1998 31
1999 33
2000 38
2001 24
2002 31
2003 30
2004 47
2005 33
2006 62
2007 54
2008 59
2009 58
2010 48
2011 61
2012 45
2013 45
2014 47
2015 54
2016 64
2017 59
2018 52
2019 70
2020 54
2021 59
2022 45
2023 43
2024 37

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1,921 results

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Page 1
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Rehm HL, Alaimo JT, Aradhya S, Bayrak-Toydemir P, Best H, Brandon R, Buchan JG, Chao EC, Chen E, Clifford J, Cohen ASA, Conlin LK, Das S, Davis KW, Del Gaudio D, Del Viso F, DiVincenzo C, Eisenberg M, Guidugli L, Hammer MB, Harrison SM, Hatchell KE, Dyer LH, Hoang LU, Holt JM, Jobanputra V, Karbassi ID, Kearney HM, Kelly MA, Kelly JM, Kluge ML, Komala T, Kruszka P, Lau L, Lebo MS, Marshall CR, McKnight D, McWalter K, Meng Y, Nagan N, Neckelmann CS, Neerman N, Niu Z, Paolillo VK, Paolucci SA, Perry D, Pesaran T, Radtke K, Rasmussen KJ, Retterer K, Saunders CJ, Spiteri E, Stanley C, Szuto A, Taft RJ, Thiffault I, Thomas BC, Thomas-Wilson A, Thorpe E, Tidwell TJ, Towne MC, Zouk H; Medical Genome Initiative Steering Committee. Rehm HL, et al. Among authors: rasmussen kj. Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30. Genet Med. 2023. PMID: 37534744
Impact of integrated translational research on clinical exome sequencing.
Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Klee EW, et al. Among authors: rasmussen kj. Genet Med. 2021 Mar;23(3):498-507. doi: 10.1038/s41436-020-01005-9. Epub 2020 Nov 4. Genet Med. 2021. PMID: 33144682 Free article.
Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease.
Le Guen Y, Belloy ME, Grenier-Boley B, de Rojas I, Castillo-Morales A, Jansen I, Nicolas A, Bellenguez C, Dalmasso C, Küçükali F, Eger SJ, Rasmussen KL, Thomassen JQ, Deleuze JF, He Z, Napolioni V, Amouyel P, Jessen F, Kehoe PG, van Duijn C, Tsolaki M, Sánchez-Juan P, Sleegers K, Ingelsson M, Rossi G, Hiltunen M, Sims R, van der Flier WM, Ramirez A, Andreassen OA, Frikke-Schmidt R, Williams J, Ruiz A, Lambert JC, Greicius MD; Members of the EADB, GR@ACE, DEGESCO, DemGene, GERAD, and EADI Groups; Arosio B, Benussi L, Boland A, Borroni B, Caffarra P, Daian D, Daniele A, Debette S, Dufouil C, Düzel E, Galimberti D, Giedraitis V, Grimmer T, Graff C, Grünblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jürgen D, Kuulasmaa T, van der Lugt A, Masullo C, Mecocci P, Mehrabian S, de Mendonça A, Moebus S, Nacmias B, Nicolas G, Olaso R, Papenberg G, Parnetti L, Pasquier F, Peters O, Pijnenburg YAL, Popp J, Rainero I, Ramakers I, Riedel-Heller S, Scarmeas N, Scheltens P, Scherbaum N, Schneider A, Seripa D, Soininen H, Solfrizzi V, Spalletta G, Squassina A, van Swieten J, Tegos TJ, Tremolizzo L, Verhey F, Vyhnalek M, Wiltfang J, Boada M, García-González P, Puerta R, … See abstract for full author list ➔ Le Guen Y, et al. Among authors: rasmussen kl. JAMA Neurol. 2022 Jul 1;79(7):652-663. doi: 10.1001/jamaneurol.2022.1166. JAMA Neurol. 2022. PMID: 35639372 Free PMC article.
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Stephenson SEM, Costain G, Blok LER, Silk MA, Nguyen TB, Dong X, Alhuzaimi DE, Dowling JJ, Walker S, Amburgey K, Hayeems RZ, Rodan LH, Schwartz MA, Picker J, Lynch SA, Gupta A, Rasmussen KJ, Schimmenti LA, Klee EW, Niu Z, Agre KE, Chilton I, Chung WK, Revah-Politi A, Au PYB, Griffith C, Racobaldo M, Raas-Rothschild A, Ben Zeev B, Barel O, Moutton S, Morice-Picard F, Carmignac V, Cornaton J, Marle N, Devinsky O, Stimach C, Wechsler SB, Hainline BE, Sapp K, Willems M, Bruel AL, Dias KR, Evans CA, Roscioli T, Sachdev R, Temple SEL, Zhu Y, Baker JJ, Scheffer IE, Gardiner FJ, Schneider AL, Muir AM, Mefford HC, Crunk A, Heise EM, Millan F, Monaghan KG, Person R, Rhodes L, Richards S, Wentzensen IM, Cogné B, Isidor B, Nizon M, Vincent M, Besnard T, Piton A, Marcelis C, Kato K, Koyama N, Ogi T, Goh ES, Richmond C, Amor DJ, Boyce JO, Morgan AT, Hildebrand MS, Kaspi A, Bahlo M, Friðriksdóttir R, Katrínardóttir H, Sulem P, Stefánsson K, Björnsson HT, Mandelstam S, Morleo M, Mariani M; TUDP Study Group; Scala M, Accogli A, Torella A, Capra V, Wallis M, Jansen S, Weisfisz Q, de Haan H, Sadedin S; Broad Center for Mendelian Genomics; Lim SC, White SM, Ascher DB, Schenck A, Lockhart PJ, C… See abstract for full author list ➔ Stephenson SEM, et al. Among authors: rasmussen kj. Am J Hum Genet. 2022 Apr 7;109(4):601-617. doi: 10.1016/j.ajhg.2022.03.002. Am J Hum Genet. 2022. PMID: 35395208 Free PMC article.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center; Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. Usmani MA, et al. Among authors: rasmussen kj. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7. Am J Hum Genet. 2021. PMID: 34102099 Free PMC article.
Rage against the (ECT) machine.
Rasmussen KG. Rasmussen KG. J ECT. 2015 Mar;31(1):1-2. doi: 10.1097/YCT.0000000000000171. J ECT. 2015. PMID: 25181022 No abstract available.
Clinical Trial Design Challenges and Opportunities for Emerging Treatments for Opioid Use Disorder: A Review.
Kiluk BD, Kleykamp BA, Comer SD, Griffiths RR, Huhn AS, Johnson MW, Kampman KM, Pravetoni M, Preston KL, Vandrey R, Bergeria CL, Bogenschutz MP, Brown RT, Dunn KE, Dworkin RH, Finan PH, Hendricks PS, Houtsmuller EJ, Kosten TR, Lee DC, Levin FR, McRae-Clark A, Raison CL, Rasmussen K, Turk DC, Weiss RD, Strain EC. Kiluk BD, et al. Among authors: rasmussen k. JAMA Psychiatry. 2023 Jan 1;80(1):84-92. doi: 10.1001/jamapsychiatry.2022.4020. JAMA Psychiatry. 2023. PMID: 36449315 Free PMC article. Review.
ChIP-Sequencing of TET Proteins.
Rasmussen KD, Helin K. Rasmussen KD, et al. Methods Mol Biol. 2021;2272:251-262. doi: 10.1007/978-1-0716-1294-1_15. Methods Mol Biol. 2021. PMID: 34009619
Towards FAIR nanosafety data.
Jeliazkova N, Apostolova MD, Andreoli C, Barone F, Barrick A, Battistelli C, Bossa C, Botea-Petcu A, Châtel A, De Angelis I, Dusinska M, El Yamani N, Gheorghe D, Giusti A, Gómez-Fernández P, Grafström R, Gromelski M, Jacobsen NR, Jeliazkov V, Jensen KA, Kochev N, Kohonen P, Manier N, Mariussen E, Mech A, Navas JM, Paskaleva V, Precupas A, Puzyn T, Rasmussen K, Ritchie P, Llopis IR, Rundén-Pran E, Sandu R, Shandilya N, Tanasescu S, Haase A, Nymark P. Jeliazkova N, et al. Among authors: rasmussen k. Nat Nanotechnol. 2021 Jun;16(6):644-654. doi: 10.1038/s41565-021-00911-6. Epub 2021 May 20. Nat Nanotechnol. 2021. PMID: 34017099
1,921 results