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Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Polla DL, Rahikkala E, Bode MK, Määttä T, Varilo T, Loman T, Philips AK, Kurki M, Palotie A, Körkkö J, Vieira P, Avela K, Jacquemin V, Pirson I, Abramowicz M, de Brouwer APM, Kuismin O, van Bokhoven H, Järvelä I. Polla DL, et al. Among authors: pirson i. Eur J Hum Genet. 2020 Apr;28(4):532. doi: 10.1038/s41431-019-0491-5. Eur J Hum Genet. 2020. PMID: 31506600 Free PMC article.
Iodotyrosine deiodinase defect identified via genome-wide approach.
Burniat A, Pirson I, Vilain C, Kulik W, Afink G, Moreno-Reyes R, Corvilain B, Abramowicz M. Burniat A, et al. Among authors: pirson i. J Clin Endocrinol Metab. 2012 Jul;97(7):E1276-83. doi: 10.1210/jc.2011-3314. Epub 2012 Apr 24. J Clin Endocrinol Metab. 2012. PMID: 22535972
Kinetochore KMN network gene CASC5 mutated in primary microcephaly.
Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M. Genin A, et al. Among authors: pirson i. Hum Mol Genet. 2012 Dec 15;21(24):5306-17. doi: 10.1093/hmg/dds386. Epub 2012 Sep 13. Hum Mol Genet. 2012. PMID: 22983954
Severe congenital microcephaly with AP4M1 mutation, a case report.
Duerinckx S, Verhelst H, Perazzolo C, David P, Desmyter L, Pirson I, Abramowicz M. Duerinckx S, et al. Among authors: pirson i. BMC Med Genet. 2017 May 2;18(1):48. doi: 10.1186/s12881-017-0412-9. BMC Med Genet. 2017. PMID: 28464862 Free PMC article.
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Polla DL, Rahikkala E, Bode MK, Määttä T, Varilo T, Loman T, Philips AK, Kurki M, Palotie A, Körkkö J, Vieira P, Avela K, Jacquemin V, Pirson I, Abramowicz M, de Brouwer APM, Kuismin O, van Bokhoven H, Järvelä I. Polla DL, et al. Among authors: pirson i. Eur J Hum Genet. 2019 Aug;27(8):1235-1243. doi: 10.1038/s41431-019-0383-8. Epub 2019 Mar 26. Eur J Hum Genet. 2019. PMID: 30914828 Free PMC article.
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.
Duerinckx S, Jacquemin V, Drunat S, Vial Y, Passemard S, Perazzolo C, Massart A, Soblet J, Racapé J, Desmyter L, Badoer C, Papadimitriou S, Le Borgne YA, Lefort A, Libert F, De Maertelaer V, Rooman M, Costagliola S, Verloes A, Lenaerts T, Pirson I, Abramowicz M. Duerinckx S, et al. Among authors: pirson i. Hum Mutat. 2020 Feb;41(2):512-524. doi: 10.1002/humu.23948. Epub 2019 Nov 27. Hum Mutat. 2020. PMID: 31696992 Free PMC article.
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