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

Year Number of Results
2002 1
2003 2
2005 1
2006 2
2007 3
2008 5
2009 6
2010 6
2011 5
2012 4
2013 8
2014 11
2015 12
2016 14
2017 9
2018 11
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2020 14
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2025 21
2026 5

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186 results

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Page 1
Long-read genome sequencing enhances diagnostics of pediatric neurological disorders.
Ek M, Kvarnung M, Ten Berk de Boer E, La Fleur L, Ljöstad L, Lyander A, Faergeman SL, Drue SO, Thonberg H, Nordgren A, Soller MJ, Wirta V, Eisfeldt J, Lindstrand A. Ek M, et al. Among authors: nordgren a. Genome Med. 2026 Jan 9;18(1):12. doi: 10.1186/s13073-025-01596-5. Genome Med. 2026. PMID: 41514368 Free PMC article.
Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.
Shahsavani M, Wincent J, Reiter R, Soltysova A, Schuy J, Helgadottir HT, Eisfeldt J, Ek M, Ficek A, Druschke L, Kusikova K, Hsieh TC, Krichhoff A, Krawitz P, Li JM, Webersinke G, Gorokhova S, Missirian C, Riccardi F, Pavinato L, Brusco A, Mandrile G, Trajkova S, Pintus F, Gagachovska B, Waisfisz Q, van Hagen A, Bedoukian E, Izumi K, Granger L, Petersen A, Oegema R, Huibers M, Demurger F, Brischoux-Boucher E, Julia S, Banneau G, Zavala MJ, Lagos C, Repetto GM, Jouret G, Kentros C, Ganapathi M, Chung WK, May H, Hiatt SM, Kelley WV, Förster A, Olfe L, Shillington A, Dauriat B, Mercier S, Cogné B, Engel C, Dahlen E, Rosenberger G, Sauvigny T, Abdallah HH, Courtin T, Stray-Pedersen A, Bernat JA, Paolillo VK, Viso FD, Alaimo JT, Thiffault I, Farrow EG, Cohen ASA, Weis S, Duba HC, Nordgren A, Falk A, Weis D, Lindstrand A. Shahsavani M, et al. Among authors: nordgren a. Res Sq [Preprint]. 2025 Dec 30:rs.3.rs-8224288. doi: 10.21203/rs.3.rs-8224288/v1. Res Sq. 2025. PMID: 41502569 Free PMC article. Preprint.
Implementing electronic informed consent in rare disease genomics.
Ekholm K, Augustinsson A, Sundström J, Johansen C, Storgärds M, Ljöstad L, Taylan F, Ekblom E, Juran S, Ek M, Malmgren CI, Soller MJ, Friedman M, Thunström S, Lovmar L, Nordgren A, Ehrencrona H, Lindstrand A. Ekholm K, et al. Among authors: nordgren a. Sci Rep. 2025 Dec 23;15(1):44419. doi: 10.1038/s41598-025-32740-1. Sci Rep. 2025. PMID: 41436845 Free PMC article.
A Population-Based Assessment of Cancer Risk in Children With VACTERL.
Tark JY, Renwick A, Tettamanti G, Harris RD, Desrosiers TA, Olshan AF, Janitz AE, Scheurer ME, Shumate CJ, Scheuerle AE, Plon SE, Huff CD, Nordgren A, Luke B, Lupo PJ, Schraw JM. Tark JY, et al. Among authors: nordgren a. Am J Med Genet A. 2025 Dec 23. doi: 10.1002/ajmga.70031. Online ahead of print. Am J Med Genet A. 2025. PMID: 41432111
186 results