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

Year Number of Results
1993 35
1994 50
1995 44
1996 55
1997 113
1998 91
1999 138
2000 166
2001 155
2002 140
2003 167
2004 166
2005 206
2006 231
2007 236
2008 316
2009 311
2010 314
2011 353
2012 401
2013 464
2014 485
2015 487
2016 375
2017 252
2018 283
2019 292
2020 298
2021 297
2022 323
2023 311
2024 86

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5,988 results

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Page 1
Genes=disease (?).
McNeill A. McNeill A. Eur J Hum Genet. 2023 Mar;31(3):255-256. doi: 10.1038/s41431-023-01314-y. Eur J Hum Genet. 2023. PMID: 36890260 No abstract available.
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge.
Lannoo L, van Straaten K, Breckpot J, Brison N, De Catte L, Dimitriadou E, Legius E, Peeters H, Parijs I, Tsuiko O, Vancoillie L, Vermeesch JR, Van Buggenhout G, Van Den Bogaert K, Van Calsteren K, Devriendt K. Lannoo L, et al. Eur J Hum Genet. 2022 Dec;30(12):1323-1330. doi: 10.1038/s41431-022-01147-1. Epub 2022 Jul 27. Eur J Hum Genet. 2022. PMID: 35896702 Free PMC article. Review.
Using exomes better.
McNeill A. McNeill A. Eur J Hum Genet. 2024 Feb;32(2):138. doi: 10.1038/s41431-024-01539-5. Eur J Hum Genet. 2024. PMID: 38332348 No abstract available.
Dutch pharmacogenetics working group (DPWG) guideline for the gene-drug interaction between UGT1A1 and irinotecan.
Hulshof EC, Deenen MJ, Nijenhuis M, Soree B, de Boer-Veger NJ, Buunk AM, Houwink EJF, Risselada A, Rongen GAPJM, van Schaik RHN, Touw DJ, van der Weide J, van Westrhenen R, Deneer VHM, Guchelaar HJ, Swen JJ. Hulshof EC, et al. Eur J Hum Genet. 2023 Sep;31(9):982-987. doi: 10.1038/s41431-022-01243-2. Epub 2022 Nov 28. Eur J Hum Genet. 2023. PMID: 36443464 Review.
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E, Beltran S, Brosens E, Belmont JW, Fossum M, Riess O, Gilissen C, Ardeshirdavani A, Houge G, van Gijn M, Clayton-Smith J, Synofzik M, de Leeuw N, Deans ZC, Dincer Y, Eck SH, van der Crabben S, Balasubramanian M, Graessner H, Sturm M, Firth H, Ferlini A, Nabbout R, De Baere E, Liehr T, Macek M, Matthijs G, Scheffer H, Bauer P, Yntema HG, Weiss MM. Souche E, et al. Eur J Hum Genet. 2022 Sep;30(9):1017-1021. doi: 10.1038/s41431-022-01113-x. Epub 2022 May 16. Eur J Hum Genet. 2022. PMID: 35577938 Free PMC article.
COVID-19: a challenge and an opportunity.
Renieri A. Renieri A. Eur J Hum Genet. 2022 Aug;30(8):870-871. doi: 10.1038/s41431-022-01142-6. Epub 2022 Jul 15. Eur J Hum Genet. 2022. PMID: 35835955 Free PMC article.
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2D6, CYP3A4 and CYP1A2 and antipsychotics.
Beunk L, Nijenhuis M, Soree B, de Boer-Veger NJ, Buunk AM, Guchelaar HJ, Houwink EJF, Risselada A, Rongen GAPJM, van Schaik RHN, Swen JJ, Touw D, van Westrhenen R, Deneer VHM, van der Weide J. Beunk L, et al. Eur J Hum Genet. 2023 Mar 31. doi: 10.1038/s41431-023-01347-3. Online ahead of print. Eur J Hum Genet. 2023. PMID: 37002327
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.
Aerden M, Denommé-Pichon AS, Bonneau D, Bruel AL, Delanne J, Gérard B, Mazel B, Philippe C, Pinson L, Prouteau C, Putoux A, Tran Mau-Them F, Viora-Dupont É, Vitobello A, Ziegler A, Piton A, Isidor B, Francannet C, Maillard PY, Julia S, Philippe A, Schaefer E, Koene S, Ruivenkamp C, Hoffer M, Legius E, Theunis M, Keren B, Buratti J, Charles P, Courtin T, Misra-Isrie M, van Haelst M, Waisfisz Q, Wieczorek D, Schmetz A, Herget T, Kortüm F, Lisfeld J, Debray FG, Bramswig NC, Atallah I, Fodstad H, Jouret G, Almoguera B, Tahsin-Swafiri S, Santos-Simarro F, Palomares-Bralo M, López-González V, Kibaek M, Tørring PM, Renieri A, Bruno LP, Õunap K, Wojcik M, Hsieh TC, Krawitz P, Van Esch H. Aerden M, et al. Eur J Hum Genet. 2023 Apr;31(4):461-468. doi: 10.1038/s41431-023-01307-x. Epub 2023 Feb 7. Eur J Hum Genet. 2023. PMID: 36747006
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis.
Evans DG, Mostaccioli S, Pang D, Fadzil O Connor M, Pittara M, Champollion N, Wolkenstein P, Thomas N, Ferner RE, Kalamarides M, Peyre M, Papi L, Legius E, Becerra JL, King A, Duff C, Stivaros S, Blanco I. Evans DG, et al. Eur J Hum Genet. 2022 Jul;30(7):812-817. doi: 10.1038/s41431-022-01086-x. Epub 2022 Apr 1. Eur J Hum Genet. 2022. PMID: 35361920 Free PMC article.
ENROLL-HD for MND?
Pears E, Stokes L, McNeill A. Pears E, et al. Eur J Hum Genet. 2023 May;31(5):493-494. doi: 10.1038/s41431-023-01309-9. Epub 2023 Feb 7. Eur J Hum Genet. 2023. PMID: 36747005 No abstract available.
5,988 results