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

Year Number of Results
1959 1
1961 1
1964 1
1966 1
1967 1
1968 1
1969 1
1970 3
1971 1
1975 2
1977 1
1978 1
1979 1
1982 1
1985 1
1986 1
1987 2
1988 6
1989 1
1993 1
2003 1
2007 1
2008 1
2011 1
2015 1
2017 1
2019 2
2020 2
2021 9
2022 5
2023 4
2024 1

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57 results

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Page 1
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14.
Jackson A, Lin SJ, Jones EA, Chandler KE, Orr D, Moss C, Haider Z, Ryan G, Holden S, Harrison M, Burrows N, Jones WD, Loveless M, Petree C, Stewart H, Low K, Donnelly D, Lovell S, Drosou K; Genomics England Research Consortium; Solve-RD consortium; Varshney GK, Banka S. Jackson A, et al. HGG Adv. 2023 Mar 3;4(2):100186. doi: 10.1016/j.xhgg.2023.100186. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 37009414 Free PMC article.
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1332-1336. doi: 10.1038/s41431-021-00901-1. Epub 2021 May 10. Eur J Hum Genet. 2021. PMID: 33972714 Free PMC article. No abstract available.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Factors Influencing Parental Awareness about Newborn Screening.
Franková V, Dohnalová A, Pešková K, Hermánková R, O'Driscoll R, Ješina P, Kožich V. Franková V, et al. Int J Neonatal Screen. 2019 Sep 18;5(3):35. doi: 10.3390/ijns5030035. eCollection 2019 Sep. Int J Neonatal Screen. 2019. PMID: 33072994 Free PMC article.
New methodology of TMB assessment from tissue and liquid biopsy in NSCLC.
Křížová Ľ, Šafaříková M, Kalousová M, Pfeiferová L, Kuběna AA, Vočka M, Ulrych J, Franková V, Petruželka L, Zima T, Feltl D. Křížová Ľ, et al. Among authors: frankova v. PLoS One. 2022 Sep 26;17(9):e0275121. doi: 10.1371/journal.pone.0275121. eCollection 2022. PLoS One. 2022. PMID: 36155654 Free PMC article.
Informing Parents about Newborn Screening: A European Comparison Study.
IJzebrink A, van Dijk T, Franková V, Loeber G, Kožich V, Henneman L, Jansen M. IJzebrink A, et al. Among authors: frankova v. Int J Neonatal Screen. 2021 Feb 26;7(1):13. doi: 10.3390/ijns7010013. Int J Neonatal Screen. 2021. PMID: 33652810 Free PMC article.
Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
Schüle R, Timmann D, Erasmus CE, Reichbauer J, Wayand M; Solve-RD-DITF-RND; van de Warrenburg B, Schöls L, Wilke C, Bevot A, Zuchner S, Beltran S, Laurie S, Matalonga L, Graessner H, Synofzik M; Solve-RD Consortium. Schüle R, et al. Eur J Hum Genet. 2021 Sep;29(9):1462-1465. doi: 10.1038/s41431-021-00935-5. Eur J Hum Genet. 2021. PMID: 34429526 Free PMC article. No abstract available.
57 results