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

Year Number of Results
1956 1
1968 1
1969 2
1971 1
1974 1
1975 2
1977 3
1978 2
1979 5
1980 6
1981 4
1982 9
1983 10
1984 6
1985 5
1986 6
1987 10
1988 8
1989 13
1990 9
1991 7
1992 8
1993 13
1994 8
1995 6
1996 10
1997 16
1998 16
1999 11
2000 9
2001 7
2002 8
2003 7
2004 10
2005 8
2006 14
2007 10
2008 10
2009 7
2010 4
2011 18
2012 9
2013 11
2014 17
2015 23
2016 26
2017 15
2018 21
2019 14
2020 20
2021 32
2022 23
2023 33
2024 13

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524 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. Among authors: de boer e. 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.
TDP-43 proteinopathies: a new wave of neurodegenerative diseases.
de Boer EMJ, Orie VK, Williams T, Baker MR, De Oliveira HM, Polvikoski T, Silsby M, Menon P, van den Bos M, Halliday GM, van den Berg LH, Van Den Bosch L, van Damme P, Kiernan MC, van Es MA, Vucic S. de Boer EMJ, et al. J Neurol Neurosurg Psychiatry. 2020 Nov 11;92(1):86-95. doi: 10.1136/jnnp-2020-322983. Online ahead of print. J Neurol Neurosurg Psychiatry. 2020. PMID: 33177049 Free PMC article. Review.
Nintedanib in children and adolescents with fibrosing interstitial lung diseases.
Deterding R, Young LR, DeBoer EM, Warburton D, Cunningham S, Schwerk N, Flaherty KR, Brown KK, Dumistracel M, Erhardt E, Bertulis J, Gahlemann M, Stowasser S, Griese M; InPedILD trial investigators. Deterding R, et al. Eur Respir J. 2023 Feb 2;61(2):2201512. doi: 10.1183/13993003.01512-2022. Print 2023 Feb. Eur Respir J. 2023. PMID: 36041751 Free PMC article. Clinical Trial.
Cardiopulmonary Exercise Testing.
de Boer E, Petrache I, Mohning MP. de Boer E, et al. JAMA. 2022 Apr 5;327(13):1284-1285. doi: 10.1001/jama.2022.2037. JAMA. 2022. PMID: 35266955 No abstract available.
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL, Weijers D, Begtrup A, McWalter K, Ruiz A, Gabau E, Morton JEV, Griffith C, Weiss K, Gamble C, Bartley J, Vernon HJ, Brunet K, Ruivenkamp C, Kant SG, Kruszka P, Larson A, Afenjar A, Billette de Villemeur T, Nugent K; DDD Study; Raymond FL, Venselaar H, Demurger F, Soler-Alfonso C, Li D, Bhoj E, Hayes I, Hamilton NP, Ahmad A, Fisher R, van den Born M, Willems M, Sorlin A, Delanne J, Moutton S, Christophe P, Mau-Them FT, Vitobello A, Goel H, Massingham L, Phornphutkul C, Schwab J, Keren B, Charles P, Vreeburg M, De Simone L, Hoganson G, Iascone M, Milani D, Evenepoel L, Revencu N, Ward DI, Burns K, Krantz I, Raible SE, Murrell JR, Wood K, Cho MT, van Bokhoven H, Muenke M, Kleefstra T, Bodmer R, de Brouwer APM. Vissers LELM, et al. Among authors: de boer e. Am J Hum Genet. 2020 Jul 2;107(1):164-172. doi: 10.1016/j.ajhg.2020.05.017. Epub 2020 Jun 17. Am J Hum Genet. 2020. PMID: 32553196 Free PMC article.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: de boer e. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
Advancements in imaging in ChILD.
Spielberg DR, Weinman J, DeBoer EM. Spielberg DR, et al. Pediatr Pulmonol. 2023 May 24. doi: 10.1002/ppul.26487. Online ahead of print. Pediatr Pulmonol. 2023. PMID: 37222402 Review.
Genetic characterization of primary lateral sclerosis.
de Boer EMJ, de Vries BS, Pennings M, Kamsteeg EJ, Veldink JH, van den Berg LH, van Es MA. de Boer EMJ, et al. J Neurol. 2023 Aug;270(8):3970-3980. doi: 10.1007/s00415-023-11746-7. Epub 2023 May 3. J Neurol. 2023. PMID: 37133535 Free PMC article.
Oncologic Procedures Amenable to Fluorescence-guided Surgery.
Tipirneni KE, Warram JM, Moore LS, Prince AC, de Boer E, Jani AH, Wapnir IL, Liao JC, Bouvet M, Behnke NK, Hawn MT, Poultsides GA, Vahrmeijer AL, Carroll WR, Zinn KR, Rosenthal E. Tipirneni KE, et al. Among authors: de boer e. Ann Surg. 2017 Jul;266(1):36-47. doi: 10.1097/SLA.0000000000002127. Ann Surg. 2017. PMID: 28045715 Free PMC article. Review.
524 results