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

Year Number of Results
2002 1
2004 2
2005 1
2006 2
2007 1
2008 1
2010 3
2011 1
2013 1
2014 3
2015 3
2016 3
2017 1
2018 3
2019 2
2020 4
2021 4
2022 8
2023 5
2024 1

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Page 1
Stepwise ABC system for classification of any type of genetic variant.
Houge G, Laner A, Cirak S, de Leeuw N, Scheffer H, den Dunnen JT. Houge G, et al. Among authors: laner a. Eur J Hum Genet. 2022 Feb;30(2):150-159. doi: 10.1038/s41431-021-00903-z. Epub 2021 May 13. Eur J Hum Genet. 2022. PMID: 33981013 Free PMC article.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Cali E, Suri M, Scala M, Ferla MP, Alavi S, Faqeih EA, Bijlsma EK, Wigby KM, Baralle D, Mehrjardi MYV, Schwab J, Platzer K, Steindl K, Hashem M, Jones M, Niyazov DM, Jacober J, Littlejohn RO, Weis D, Zadeh N, Rodan L, Goldenberg A, Lecoquierre F, Dutra-Clarke M, Horvath G, Young D, Orenstein N, Bawazeer S, Vulto-van Silfhout AT, Herenger Y, Dehghani M, Seyedhassani SM, Bahreini A, Nasab ME, Ercan-Sencicek AG, Firoozfar Z, Movahedinia M, Efthymiou S, Striano P, Karimiani EG, Salpietro V, Taylor JC, Redman M, Stegmann APA, Laner A, Abdel-Salam G, Li M, Bengala M, Müller AJ, Digilio MC, Rauch A, Gunel M, Titheradge H, Schweitzer DN, Kraus A, Valenzuela I, McLean SD, Phornphutkul C, Salih M, Begtrup A, Schnur RE, Torti E, Haack TB, Prada CE, Alkuraya FS, Houlden H, Maroofian R. Cali E, et al. Among authors: laner a. Genet Med. 2023 Jan;25(1):135-142. doi: 10.1016/j.gim.2022.09.016. Epub 2022 Nov 18. Genet Med. 2023. PMID: 36399134 Free PMC article.
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.
Oliveira J, Gruber A, Cardoso M, Taipa R, Fineza I, Gonçalves A, Laner A, Winder TL, Schroeder J, Rath J, Oliveira ME, Vieira E, Sousa AP, Vieira JP, Lourenço T, Almendra L, Negrão L, Santos M, Melo-Pires M, Coelho T, den Dunnen JT, Santos R, Sousa M. Oliveira J, et al. Among authors: laner a. Hum Mutat. 2018 Oct;39(10):1314-1337. doi: 10.1002/humu.23599. Epub 2018 Aug 10. Hum Mutat. 2018. PMID: 30055037 Review.
42 results