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Search life-sciences literature (45,103,589 articles, preprints and more)

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Low-cost generation of clinical-grade layperson-friendly pharmacogenetic passports using oligonucleotide arrays
Lanting P, Warmerdam R, Slager J, Brugge H, Ochi T, Benjamins M, Lopera-Maya E, Jankipersadsing S, Gelderloos-Arends J, Teuben D, Hendriksen D, Charbon B, Johansson L, Oude Munnink T, de Boer-Veger N, Lifelines NEXT, LifeLines Cohort Study, Wilffert B, Swertz M, [...] Franke L
medRxiv, 28 Aug 2024
Cited by: 0 articles | PPR: PPR903008
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MOLGENIS VIP: an open-source and modular pipeline for high-throughput and integrated DNA variant analysis
Maassen W, Johansson L, Charbon B, Hendriksen D, van den Hoek S, Slofstra M, Mulder R, Meems-Veldhuis M, Sietsma R, Lemmink H, van Diemen C, van Gijn M, Swertz M, van der Velde K
medRxiv, 15 Apr 2024
Cited by: 0 articles | PPR: PPR837591
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Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G, Westra D, de Boer EN, van Berkel E, Hofste TGJ, van Zweeden M, Derks RC, Leijsten NFA, Ruiterkamp-Versteeg MHA, Charbon B, Johansson L, Bos-Kruizinga J, Veenstra IJ, de Sain-van der Velden MGM, Voorhoeve E, Heiner-Fokkema MR, van Spronsen F, Sikkema-Raddatz B, Nelen M
Int J Neonatal Screen, 10(1):20, 07 Mar 2024
Cited by: 1 article | PMID: 38535124 | PMCID: PMC10971161
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CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.
Li S, van der Velde KJ, de Ridder D, van Dijk ADJ, Soudis D, Zwerwer LR, Deelen P, Hendriksen D, Charbon B, van Gijn ME, Abbott K, Sikkema-Raddatz B, van Diemen CC, Kerstjens-Frederikse WS, Sinke RJ, Swertz MA
Genome Med, 12(1):75, 24 Aug 2020
Cited by: 21 articles | PMID: 32831124 | PMCID: PMC7446154
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CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations
Li S, van der Velde KJ, de Ridder D, van Dijk AD, Soudis D, Zwerwer LR, Deelen P, Hendriksen D, Charbon B, van Gijn M, Abbott KM, Sikkema-Raddatz B, van Diemen CC, Kerstjens-Frederikse WS, Sinke RJ, Swertz MA
medRxiv, 29 Nov 2019
Cited by: 0 articles | PPR: PPR103765
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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, [...] van Gijn ME
Hum Mutat, 40(12):2230-2238, 03 Sep 2019
Cited by: 23 articles | PMID: 31433103 | PMCID: PMC6900155
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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, 35(6):1076-1078, 01 Mar 2019
Cited by: 41 articles | PMID: 30165396 | PMCID: PMC6419911
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BiobankUniverse: automatic matchmaking between datasets for biobank data discovery and integration.
Pang C, Kelpin F, van Enckevort D, Eklund N, Silander K, Hendriksen D, de Haan M, Jetten J, de Boer T, Charbon B, Holub P, Hillege H, Swertz MA
Bioinformatics, 33(22):3627-3634, 01 Nov 2017
Cited by: 2 articles | PMID: 29036577 | PMCID: PMC5870622
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MOLGENIS/connect: a system for semi-automatic integration of heterogeneous phenotype data with applications in biobanks.
Pang C, van Enckevort D, de Haan M, Kelpin F, Jetten J, Hendriksen D, de Boer T, Charbon B, Winder E, van der Velde KJ, Doiron D, Fortier I, Hillege H, Swertz MA
Bioinformatics, 32(14):2176-2183, 21 Mar 2016
Cited by: 5 articles | PMID: 27153686 | PMCID: PMC4937195
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SORTA: a system for ontology-based re-coding and technical annotation of biomedical phenotype data.
Pang C, Sollie A, Sijtsma A, Hendriksen D, Charbon B, de Haan M, de Boer T, Kelpin F, Jetten J, van der Velde JK, Smidt N, Sijmons R, Hillege H, Swertz MA
Database (Oxford), 2015:bav089, 18 Sep 2015
Cited by: 16 articles | PMID: 26385205 | PMCID: PMC4574036
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The ARVD/C genetic variants database: 2014 update.
Lazzarini E, Jongbloed JD, Pilichou K, Thiene G, Basso C, Bikker H, Charbon B, Swertz M, van Tintelen JP, van der Zwaag PA
Hum Mutat, 36(4):403-410, 19 Mar 2015
Cited by: 49 articles | PMID: 25676813
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Cardiopulmonary reserve five to fifteen years following fifty per cent or more reduction of lung volume.
HARRISON RW, BUEHLER W, THOMPSON RG, LONG ET, CARLSON R, CHARBON B, ADAMS WE
Surg Forum, 7:209-213, 01 Jan 1957
Cited by: 2 articles | PMID: 13433349
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The effect of decreasing the amount of lung tissue on the right ventricular pressures in animals.
CARLSON RF, CHARBON BC, CHARBON HG, ADAMS WE
J Thorac Surg, 21(6):621-632, 01 Jun 1951
Cited by: 4 articles | PMID: 14841798
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A study to determine the effect of prevention of overdistention of the remaining lung tissue on the elevated right ventricular pressures, following the resection of lung tissue in dogs.
CHARBON BC, ADAMS EW
J Thorac Surg, 23(4):341-347, 01 Apr 1952
Cited by: 4 articles | PMID: 14918265
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Surgical treatment of multiple arteriovenous fistulas in the right lung in a patient having undergone a left pneumonectomy seven years earlier for the same disease.
CHARBON BC, ADAMS WE, CARLSON RF
J Thorac Surg, 23(2):188-196, 01 Feb 1952
Cited by: 4 articles | PMID: 14909314
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Clamps for end-to-end anastomosis of blood vessels.
CHARBON BC
J Thorac Surg, 21(1):109-110, 01 Jan 1951
Cited by: 0 articles | PMID: 14804719
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