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Items: 16

1.

Identification of the first multi-exonic WDR72 deletion in isolated amelogenesis imperfecta, and generation of a WDR72-specific copy number screening tool.

Hentschel J, Tatun D, Parkhomchuk D, Kurth I, Schimmel B, Heinrich-Weltzien R, Bertzbach S, Peters H, Beetz C.

Gene. 2016 Sep 15;590(1):1-4. doi: 10.1016/j.gene.2016.05.040. Epub 2016 May 31.

PMID:
27259663
2.

PDE3A mutations cause autosomal dominant hypertension with brachydactyly.

Maass PG, Aydin A, Luft FC, Schächterle C, Weise A, Stricker S, Lindschau C, Vaegler M, Qadri F, Toka HR, Schulz H, Krawitz PM, Parkhomchuk D, Hecht J, Hollfinger I, Wefeld-Neuenfeld Y, Bartels-Klein E, Mühl A, Kann M, Schuster H, Chitayat D, Bialer MG, Wienker TF, Ott J, Rittscher K, Liehr T, Jordan J, Plessis G, Tank J, Mai K, Naraghi R, Hodge R, Hopp M, Hattenbach LO, Busjahn A, Rauch A, Vandeput F, Gong M, Rüschendorf F, Hübner N, Haller H, Mundlos S, Bilginturan N, Movsesian MA, Klussmann E, Toka O, Bähring S.

Nat Genet. 2015 Jun;47(6):647-53. doi: 10.1038/ng.3302. Epub 2015 May 11.

PMID:
25961942
3.

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome.

Krawitz PM, Schiska D, Krüger U, Appelt S, Heinrich V, Parkhomchuk D, Timmermann B, Millan JM, Robinson PN, Mundlos S, Hecht J, Gross M.

Mol Genet Genomic Med. 2014 Sep;2(5):393-401. doi: 10.1002/mgg3.92. Epub 2014 Jun 15.

4.

Drake's rule as a consequence of approaching channel capacity.

Shadrin AA, Parkhomchuk DV.

Naturwissenschaften. 2014 Nov;101(11):939-54. doi: 10.1007/s00114-014-1235-6. Epub 2014 Sep 17.

5.

Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees.

Kamphans T, Sabri P, Zhu N, Heinrich V, Mundlos S, Robinson PN, Parkhomchuk D, Krawitz PM.

PLoS One. 2013 Aug 5;8(8):e70151. doi: 10.1371/journal.pone.0070151. Print 2013.

6.

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects.

Heinrich V, Kamphans T, Stange J, Parkhomchuk D, Hecht J, Dickhaus T, Robinson PN, Krawitz PM.

Genome Med. 2013 Jul 31;5(7):69. doi: 10.1186/gm473. eCollection 2013.

7.

A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT.

Krawitz PM, Höchsmann B, Murakami Y, Teubner B, Krüger U, Klopocki E, Neitzel H, Hoellein A, Schneider C, Parkhomchuk D, Hecht J, Robinson PN, Mundlos S, Kinoshita T, Schrezenmeier H.

Blood. 2013 Aug 15;122(7):1312-5. doi: 10.1182/blood-2013-01-481499. Epub 2013 Jun 3.

8.

Integrative genomic analyses reveal an androgen-driven somatic alteration landscape in early-onset prostate cancer.

Weischenfeldt J, Simon R, Feuerbach L, Schlangen K, Weichenhan D, Minner S, Wuttig D, Warnatz HJ, Stehr H, Rausch T, Jäger N, Gu L, Bogatyrova O, Stütz AM, Claus R, Eils J, Eils R, Gerhäuser C, Huang PH, Hutter B, Kabbe R, Lawerenz C, Radomski S, Bartholomae CC, Fälth M, Gade S, Schmidt M, Amschler N, Haß T, Galal R, Gjoni J, Kuner R, Baer C, Masser S, von Kalle C, Zichner T, Benes V, Raeder B, Mader M, Amstislavskiy V, Avci M, Lehrach H, Parkhomchuk D, Sultan M, Burkhardt L, Graefen M, Huland H, Kluth M, Krohn A, Sirma H, Stumm L, Steurer S, Grupp K, Sültmann H, Sauter G, Plass C, Brors B, Yaspo ML, Korbel JO, Schlomm T.

Cancer Cell. 2013 Feb 11;23(2):159-70. doi: 10.1016/j.ccr.2013.01.002.

9.

The pentose phosphate pathway is a metabolic redox sensor and regulates transcription during the antioxidant response.

Krüger A, Grüning NM, Wamelink MM, Kerick M, Kirpy A, Parkhomchuk D, Bluemlein K, Schweiger MR, Soldatov A, Lehrach H, Jakobs C, Ralser M.

Antioxid Redox Signal. 2011 Jul 15;15(2):311-24. doi: 10.1089/ars.2010.3797. Epub 2011 May 19.

PMID:
21348809
10.

Use of high throughput sequencing to observe genome dynamics at a single cell level.

Parkhomchuk D, Amstislavskiy V, Soldatov A, Ogryzko V.

Proc Natl Acad Sci U S A. 2009 Dec 8;106(49):20830-5. doi: 10.1073/pnas.0906681106. Epub 2009 Nov 23.

11.

Transcriptome analysis by strand-specific sequencing of complementary DNA.

Parkhomchuk D, Borodina T, Amstislavskiy V, Banaru M, Hallen L, Krobitsch S, Lehrach H, Soldatov A.

Nucleic Acids Res. 2009 Oct;37(18):e123. doi: 10.1093/nar/gkp596. Epub 2009 Jul 20.

12.

Genome-wide massively parallel sequencing of formaldehyde fixed-paraffin embedded (FFPE) tumor tissues for copy-number- and mutation-analysis.

Schweiger MR, Kerick M, Timmermann B, Albrecht MW, Borodina T, Parkhomchuk D, Zatloukal K, Lehrach H.

PLoS One. 2009;4(5):e5548. doi: 10.1371/journal.pone.0005548. Epub 2009 May 14.

13.

A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome.

Sultan M, Schulz MH, Richard H, Magen A, Klingenhoff A, Scherf M, Seifert M, Borodina T, Soldatov A, Parkhomchuk D, Schmidt D, O'Keeffe S, Haas S, Vingron M, Lehrach H, Yaspo ML.

Science. 2008 Aug 15;321(5891):956-60. doi: 10.1126/science.1160342. Epub 2008 Jul 3.

14.

Repositioning-dependent fate of duplicate genes.

Rodin SN, Parkhomchuk DV, Rodin AS, Holmquist GP, Riggs AD.

DNA Cell Biol. 2005 Sep;24(9):529-42. Review.

PMID:
16153154
15.

Epigenetic changes and repositioning determine the evolutionary fate of duplicated genes.

Rodin SN, Parkhomchuk DV, Riggs AD.

Biochemistry (Mosc). 2005 May;70(5):559-67. Review.

16.

Position-associated GC asymmetry of gene duplicates.

Rodin SN, Parkhomchuk DV.

J Mol Evol. 2004 Sep;59(3):372-84.

PMID:
15553091

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