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Items: 1 to 50 of 79

1.

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice.

Leroy B, Ballinger ML, Baran-Marszak F, Bond GL, Braithwaite A, Concin N, Donehower LA, El-Deiry WS, Fenaux P, Gaidano G, Langerød A, Hellstrom-Lindberg E, Iggo R, Lehmann-Che J, Mai PL, Malkin D, Moll UM, Myers JN, Nichols KE, Pospisilova S, Ashton-Prolla P, Rossi D, Savage SA, Strong LC, Tonin PN, Zeillinger R, Zenz T, Fraumeni JF Jr, Taschner PE, Hainaut P, Soussi T.

Cancer Res. 2017 Mar 15;77(6):1250-1260. doi: 10.1158/0008-5472.CAN-16-2179. Review.

2.

Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications.

Soussi T, Taschner PE, Samuels Y.

Hum Mutat. 2017 Apr;38(4):339-342. doi: 10.1002/humu.23163. Epub 2017 Feb 2.

PMID:
28026089
3.

Clinical Interpretation of Variants from Next-Generation Sequencing: The 2016 Scientific Meeting of the Human Genome Variation Society.

Oetting WS, Brookes AJ, Béroud C, Taschner PE.

Hum Mutat. 2016 Oct;37(10):1110-3. doi: 10.1002/humu.23059. Epub 2016 Aug 21.

PMID:
27492570
4.

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE.

Hum Mutat. 2016 Jun;37(6):564-9. doi: 10.1002/humu.22981. Epub 2016 Mar 25.

PMID:
26931183
5.

Pathogenicity Interpretation in the Age of Precision Medicine: The 2015 Annual Scientific Meeting of the Human Genome Variation Society.

Oetting WS, Brenner SE, Brookes AJ, Greenblatt MS, Hart RK, Karchin R, Sunyaev SR, Taschner PE.

Hum Mutat. 2016 Apr;37(4):406-11. doi: 10.1002/humu.22958. Epub 2016 Feb 12. No abstract available.

6.

A germline chromothripsis event stably segregating in 11 individuals through three generations.

Bertelsen B, Nazaryan-Petersen L, Sun W, Mehrjouy MM, Xie G, Chen W, Hjermind LE, Taschner PE, Tümer Z.

Genet Med. 2016 May;18(5):494-500. doi: 10.1038/gim.2015.112. Epub 2015 Aug 27.

PMID:
26312826
7.

The Matchmaker Exchange: a platform for rare disease gene discovery.

Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SO, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL.

Hum Mutat. 2015 Oct;36(10):915-21. doi: 10.1002/humu.22858.

8.

An efficient algorithm for the extraction of HGVS variant descriptions from sequences.

Vis JK, Vermaat M, Taschner PE, Kok JN, Laros JF.

Bioinformatics. 2015 Dec 1;31(23):3751-7. doi: 10.1093/bioinformatics/btv443. Epub 2015 Jul 31.

PMID:
26231427
9.

Novel CLN3 mutation causing autophagic vacuolar myopathy.

Taschner PE, Cortese A, Tucci A.

Neurology. 2015 Feb 10;84(6):632. doi: 10.1212/WNL.0000000000001248. No abstract available.

PMID:
25666632
10.

Preserving sequence annotations across reference sequences.

Tatum Z, Roos M, Gibson AP, Taschner PE, Thompson M, Schultes EA, Laros JF.

J Biomed Semantics. 2014 Jun 3;5(Suppl 1 Proceedings of the Bio-Ontologies Spec Interest G):S6. doi: 10.1186/2041-1480-5-S1-S6. eCollection 2014.

11.

Recommendations for analyzing and reporting TP53 gene variants in the high-throughput sequencing era.

Soussi T, Leroy B, Taschner PE.

Hum Mutat. 2014 Jun;35(6):766-78. doi: 10.1002/humu.22561. Epub 2014 May 6. Review.

PMID:
24729566
12.

VarioML framework for comprehensive variation data representation and exchange.

Byrne M, Fokkema IF, Lancaster O, Adamusiak T, Ahonen-Bishopp A, Atlan D, Béroud C, Cornell M, Dalgleish R, Devereau A, Patrinos GP, Swertz MA, Taschner PE, Thorisson GA, Vihinen M, Brookes AJ, Muilu J.

BMC Bioinformatics. 2012 Oct 3;13:254. doi: 10.1186/1471-2105-13-254.

13.

In search of triallelism in Bardet-Biedl syndrome.

Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, Sirelkhatim MO, Al-Hassnan Z, Alkuraya B, Mohamed JY, Al-Salem A, Alrashed M, Faqeih E, Softah A, Al-Hashem A, Wali S, Rahbeeni Z, Alsayed M, Khan AO, Al-Gazali L, Taschner PE, Al-Hazzaa S, Alkuraya FS.

Eur J Hum Genet. 2012 Apr;20(4):420-7. doi: 10.1038/ejhg.2011.205. Epub 2012 Feb 22.

14.

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form.

Laros JF, Blavier A, den Dunnen JT, Taschner PE.

BMC Bioinformatics. 2011;12 Suppl 4:S5. doi: 10.1186/1471-2105-12-S4-S5. Epub 2011 Jul 5.

15.

Curating gene variant databases (LSDBs): toward a universal standard.

Celli J, Dalgleish R, Vihinen M, Taschner PE, den Dunnen JT.

Hum Mutat. 2012 Feb;33(2):291-7. doi: 10.1002/humu.21626. Epub 2011 Nov 3.

PMID:
21990126
16.

LOVD v.2.0: the next generation in gene variant databases.

Fokkema IF, Taschner PE, Schaafsma GC, Celli J, Laros JF, den Dunnen JT.

Hum Mutat. 2011 May;32(5):557-63. doi: 10.1002/humu.21438. Epub 2011 Feb 22.

PMID:
21520333
17.

Describing structural changes by extending HGVS sequence variation nomenclature.

Taschner PE, den Dunnen JT.

Hum Mutat. 2011 May;32(5):507-11. doi: 10.1002/humu.21427. Epub 2011 Mar 15.

PMID:
21309030
18.

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

Dalgleish R, Flicek P, Cunningham F, Astashyn A, Tully RE, Proctor G, Chen Y, McLaren WM, Larsson P, Vaughan BW, Béroud C, Dobson G, Lehväslaiho H, Taschner PE, den Dunnen JT, Devereau A, Birney E, Brookes AJ, Maglott DR.

Genome Med. 2010 Apr 15;2(4):24. doi: 10.1186/gm145.

19.

Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma.

Bayley JP, van Minderhout I, Hogendoorn PC, Cornelisse CJ, van der Wal A, Prins FA, Teppema L, Dahan A, Devilee P, Taschner PE.

PLoS One. 2009 Nov 24;4(11):e7987. doi: 10.1371/journal.pone.0007987.

20.

Deep sequencing to reveal new variants in pooled DNA samples.

Out AA, van Minderhout IJ, Goeman JJ, Ariyurek Y, Ossowski S, Schneeberger K, Weigel D, van Galen M, Taschner PE, Tops CM, Breuning MH, van Ommen GJ, den Dunnen JT, Devilee P, Hes FJ.

Hum Mutat. 2009 Dec;30(12):1703-12. doi: 10.1002/humu.21122.

PMID:
19842214
21.

Caenorhabditis elegans as a model for lysosomal storage disorders.

de Voer G, Peters D, Taschner PE.

Biochim Biophys Acta. 2008 Jul-Aug;1782(7-8):433-46. doi: 10.1016/j.bbadis.2008.04.003. Epub 2008 May 1. Review.

22.

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

Wildeman M, van Ophuizen E, den Dunnen JT, Taschner PE.

Hum Mutat. 2008 Jan;29(1):6-13.

PMID:
18000842
23.

Characterizing pathogenic processes in Batten disease: use of small eukaryotic model systems.

Phillips SN, Muzaffar N, Codlin S, Korey CA, Taschner PE, de Voer G, Mole SE, Pearce DA.

Biochim Biophys Acta. 2006 Oct;1762(10):906-19. Epub 2006 Sep 1. Review.

24.

Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.

de Voer G, van der Bent P, Rodrigues AJ, van Ommen GJ, Peters DJ, Taschner PE.

J Inherit Metab Dis. 2005;28(6):1065-80.

PMID:
16435200
25.

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.

Bayley JP, van Minderhout I, Weiss MM, Jansen JC, Oomen PH, Menko FH, Pasini B, Ferrando B, Wong N, Alpert LC, Williams R, Blair E, Devilee P, Taschner PE.

BMC Med Genet. 2006 Jan 11;7:1.

27.

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach.

Fokkema IF, den Dunnen JT, Taschner PE.

Hum Mutat. 2005 Aug;26(2):63-8.

PMID:
15977173
28.

Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas.

van Houtum WH, Corssmit EP, Douwes Dekker PB, Jansen JC, van der Mey AG, Bröcker-Vriends AH, Taschner PE, Losekoot M, Frölich M, Stokkel MP, Cornelisse CJ, Romijn JA.

Eur J Endocrinol. 2005 Jan;152(1):87-94.

PMID:
15762191
29.

Polymorphism of mu-opioid receptor gene (OPRM1:c.118A>G) does not protect against opioid-induced respiratory depression despite reduced analgesic response.

Romberg RR, Olofsen E, Bijl H, Taschner PE, Teppema LJ, Sarton EY, van Kleef JW, Dahan A.

Anesthesiology. 2005 Mar;102(3):522-30.

PMID:
15731588
30.

[From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis].

Taschner PE, Losekoot M, Breuning MH, Hofman I, van Diggelen OP.

Ned Tijdschr Geneeskd. 2005 Feb 5;149(6):300-3. Review. Dutch.

PMID:
15730038
31.

Carotid body tumors in humans caused by a mutation in the gene for succinate dehydrogenase D (SDHD).

Dahan A, Taschner PE, Jansen JC, van der Mey A, Teppema LJ, Cornelisse CJ.

Adv Exp Med Biol. 2004;551:71-6. No abstract available.

PMID:
15602946
32.

Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.

Hensen EF, Jordanova ES, van Minderhout IJ, Hogendoorn PC, Taschner PE, van der Mey AG, Devilee P, Cornelisse CJ.

Oncogene. 2004 May 20;23(23):4076-83.

PMID:
15064708
33.

Pharmacokinetic-pharmacodynamic modeling of morphine-6-glucuronide-induced analgesia in healthy volunteers: absence of sex differences.

Romberg R, Olofsen E, Sarton E, den Hartigh J, Taschner PE, Dahan A.

Anesthesiology. 2004 Jan;100(1):120-33.

PMID:
14695733
34.

SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology.

Douwes Dekker PB, Hogendoorn PC, Kuipers-Dijkshoorn N, Prins FA, van Duinen SG, Taschner PE, van der Mey AG, Cornelisse CJ.

J Pathol. 2003 Nov;201(3):480-6.

PMID:
14595761
35.

Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

Lee SC, Chionh SB, Chong SM, Taschner PE.

Laryngoscope. 2003 Jun;113(6):1055-8.

PMID:
12782822
36.

[From gene to disease; from SDHD, a defect in the respiratory chain, to paragangliomas and pheochromocytomas].

Taschner PE, Bröcker-Vriends AH, van der Mey AG.

Ned Tijdschr Geneeskd. 2002 Nov 16;146(46):2188-90. Dutch.

PMID:
12467161
37.

Phenotypic dichotomy in mitochondrial complex II genetic disorders.

Baysal BE, Rubinstein WS, Taschner PE.

J Mol Med (Berl). 2001 Sep;79(9):495-503. Review.

PMID:
11692162
38.

New mutations in the neuronal ceroid lipofuscinosis genes.

Mole SE, Zhong NA, Sarpong A, Logan WP, Hofmann S, Yi W, Franken PF, van Diggelen OP, Breuning MH, Moroziewicz D, Ju W, Salonen T, Holmberg V, Järvelä I, Taschner PE.

Eur J Paediatr Neurol. 2001;5 Suppl A:7-10. Review.

PMID:
11589012
39.

Caenorhabditis elegans homologues of the CLN3 gene, mutated in juvenile neuronal ceroid lipofuscinosis.

De Voer G, Jansen G, van Ommen GJ, Peters DJ, Taschner PE.

Eur J Paediatr Neurol. 2001;5 Suppl A:115-20.

PMID:
11588981
40.

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.

van Diggelen OP, Thobois S, Tilikete C, Zabot MT, Keulemans JL, van Bunderen PA, Taschner PE, Losekoot M, Voznyi YV.

Ann Neurol. 2001 Aug;50(2):269-72.

PMID:
11506414
41.

Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

Taschner PE, Jansen JC, Baysal BE, Bosch A, Rosenberg EH, Bröcker-Vriends AH, van Der Mey AG, van Ommen GJ, Cornelisse CJ, Devilee P.

Genes Chromosomes Cancer. 2001 Jul;31(3):274-81.

PMID:
11391798
42.

Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

Badenhop RF, Cherian S, Lord RS, Baysal BE, Taschner PE, Schofield PR.

Genes Chromosomes Cancer. 2001 Jul;31(3):255-63.

PMID:
11391796
43.
44.

First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis.

Kleijer WJ, van Diggelen OP, Keulemans JL, Losekoot M, Garritsen VH, Stroink H, Majoor-Krakauer D, Franken PF, Eurlings MC, Taschner PE, Los FJ, Galjaard RJ.

Prenat Diagn. 2001 Feb;21(2):99-101.

PMID:
11241534
45.

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW 3rd, Cornelisse CJ, Devilee P, Devlin B.

Science. 2000 Feb 4;287(5454):848-51.

46.

Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected].

Mitchison HM, Bernard DJ, Greene ND, Cooper JD, Junaid MA, Pullarkat RK, de Vos N, Breuning MH, Owens JW, Mobley WC, Gardiner RM, Lake BD, Taschner PE, Nussbaum RL.

Neurobiol Dis. 1999 Oct;6(5):321-34. Erratum in: Neurobiol Dis 2000 Apr;7(2):127.

PMID:
10527801
47.

First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis.

de Vries BB, Kleijer WJ, Keulemans JL, Voznyi YV, Franken PF, Eurlings MC, Galjaard RJ, Losekoot M, Catsman-Berrevoets CE, Breuning MH, Taschner PE, van Diggelen OP.

Prenat Diagn. 1999 Jun;19(6):559-62.

PMID:
10416973
48.

Genetic heterogeneity of neuronal ceroid lipofuscinosis in The Netherlands.

Taschner PE, Franken PF, van Berkel L, Breuning MH.

Mol Genet Metab. 1999 Apr;66(4):339-43.

PMID:
10191126
49.

A murine model for juvenile NCL: gene targeting of mouse Cln3.

Greene ND, Bernard DL, Taschner PE, Lake BD, de Vos N, Breuning MH, Gardiner RM, Mole SE, Nussbaum RL, Mitchison HM.

Mol Genet Metab. 1999 Apr;66(4):309-13.

PMID:
10191119
50.

The molecular basis of GROD-storing neuronal ceroid lipofuscinoses in Scotland.

Stephenson JB, Greene ND, Leung KY, Munroe PB, Mole SE, Gardiner RM, Taschner PE, O'Regan M, Naismith K, Crow YJ, Mitchison HM.

Mol Genet Metab. 1999 Apr;66(4):245-7.

PMID:
10191109

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