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Items: 3

1.

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.

Fokkema IFAC, van der Velde KJ, Slofstra MK, Ruivenkamp CAL, Vogel MJ, Pfundt R, Blok MJ, Lekanne Deprez RH, Waisfisz Q, Abbott KM, Sinke RJ, Rahman R, Nijman IJ, de Koning B, Thijs G, Wieskamp N, Moritz RJG, Charbon B, Saris JJ, den Dunnen JT, Laros JFJ, Swertz MA, van Gijn ME.

Hum Mutat. 2019 Aug 21. doi: 10.1002/humu.23896. [Epub ahead of print]

PMID:
31433103
2.

MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians.

van der Velde KJ, Imhann F, Charbon B, Pang C, van Enckevort D, Slofstra M, Barbieri R, Alberts R, Hendriksen D, Kelpin F, de Haan M, de Boer T, Haakma S, Stroomberg C, Scholtens S, van de Geijn GJ, Festen EAM, Weersma RK, Swertz MA.

Bioinformatics. 2019 Mar 15;35(6):1076-1078. doi: 10.1093/bioinformatics/bty742.

3.

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

Van Gijn ME, Ceccherini I, Shinar Y, Carbo EC, Slofstra M, Arostegui JI, Sarrabay G, Rowczenio D, Omoyımnı E, Balci-Peynircioglu B, Hoffman HM, Milhavet F, Swertz MA, Touitou I.

J Med Genet. 2018 Aug;55(8):530-537. doi: 10.1136/jmedgenet-2017-105216. Epub 2018 Mar 29.

PMID:
29599418

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