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Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.
Lahrouchi N, Postma AV, Salazar CM, De Laughter DM, Tjong F, Piherová L, Bowling FZ, Zimmerman D, Lodder EM, Ta-Shma A, Perles Z, Beekman L, Ilgun A, Gunst Q, Hababa M, Škorić-Milosavljević D, Stránecký V, Tomek V, de Knijff P, de Leeuw R, Robinson JY, Burn SC, Mustafa H, Ambrose M, Moss T, Jacober J, Niyazov DM, Wolf B, Kim KH, Cherny S, Rousounides A, Aristidou-Kallika A, Tanteles G, Ange-Line B, Denommé-Pichon AS, Francannet C, Ortiz D, Haak MC, Ten Harkel AD, Manten GT, Dutman AC, Bouman K, Magliozzi M, Radio FC, Santen GW, Herkert JC, Brown HA, Elpeleg O, van den Hoff MJ, Mulder B, Airola MV, Kmoch S, Barnett JV, Clur SA, Frohman MA, Bezzina CR. Lahrouchi N, et al. Among authors: de knijff p. J Clin Invest. 2021 Mar 1;131(5):e142148. doi: 10.1172/JCI142148. J Clin Invest. 2021. PMID: 33645542 Free PMC article.
FDSTools: A software package for analysis of massively parallel sequencing data with the ability to recognise and correct STR stutter and other PCR or sequencing noise.
Hoogenboom J, van der Gaag KJ, de Leeuw RH, Sijen T, de Knijff P, Laros JF. Hoogenboom J, et al. Among authors: de leeuw rh, de knijff p. Forensic Sci Int Genet. 2017 Mar;27:27-40. doi: 10.1016/j.fsigen.2016.11.007. Epub 2016 Nov 27. Forensic Sci Int Genet. 2017. PMID: 27914278 Free article.
TSSV: a tool for characterization of complex allelic variants in pure and mixed genomes.
Anvar SY, van der Gaag KJ, van der Heijden JW, Veltrop MH, Vossen RH, de Leeuw RH, Breukel C, Buermans HP, Verbeek JS, de Knijff P, den Dunnen JT, Laros JF. Anvar SY, et al. Among authors: de leeuw rh, de knijff p. Bioinformatics. 2014 Jun 15;30(12):1651-9. doi: 10.1093/bioinformatics/btu068. Epub 2014 Feb 13. Bioinformatics. 2014. PMID: 24532718
225 results