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Year Number of Results
1952 1
1953 1
1957 1
1963 1
1964 4
1972 2
1974 1
1977 1
1978 1
1981 1
1982 1
1983 3
1985 1
1986 1
1988 2
1991 1
1993 2
2004 1
2006 1
2007 4
2008 6
2009 9
2010 6
2011 1
2012 5
2013 2
2014 2
2015 2
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2019 2
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2022 2
2023 5
2024 12
2025 12

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86 results

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Page 1
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
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.
[Hypothenar eminence].
Lebreton E. Lebreton E. Chir Main. 2010 Sep;29(4):213-23. doi: 10.1016/j.main.2010.04.003. Epub 2010 May 20. Chir Main. 2010. PMID: 20554467 Review. French.
Prevalence of anxiety symptoms and associated factors at 2 months postpartum, results from a 2021 French national prospective cohort study.
Doncarli A, Demiguel V, Le Ray C, Deneux-Tharaux C, Lebreton E, Apter G, Boudet-Berquier J, Crenn-Hebert C, Vacheron MN, Regnault N, Tebeka S; Members of the ENP2021 Study Group. Doncarli A, et al. Among authors: lebreton e. Eur Psychiatry. 2024 Dec 27;67(1):e89. doi: 10.1192/j.eurpsy.2024.1799. Eur Psychiatry. 2024. PMID: 39726376 Free PMC article.
The radial forearm free flap: a review of microsurgical options.
Médard de Chardon V, Balaguer T, Chignon-Sicard B, Riah Y, Ihrai T, Dannan E, Lebreton E. Médard de Chardon V, et al. Among authors: lebreton e. J Plast Reconstr Aesthet Surg. 2009 Jan;62(1):5-10. doi: 10.1016/j.bjps.2008.06.053. Epub 2008 Oct 11. J Plast Reconstr Aesthet Surg. 2009. PMID: 18851935 Review.
86 results