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The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.

Duba HC, Doll A, Neyer M, Erdel M, Mann C, Hammerer I, Utermann G, Grzeschik KH. Duba HC, et al. Eur J Hum Genet. 2002 Jun;10(6):351-61. doi: 10.1038/sj.ejhg.5200812. Eur J Hum Genet. 2002. PMID: 12080386

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Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay.

Malli T, Duba HC, Erdel M, Marschon R, Kranewitter W, Deutschbauer S, Kralik J, Diel E, Güenther B, Mueller D, Webersinke G. Malli T, et al. Among authors: duba hc. Am J Med Genet A. 2014 Dec;164A(12):3126-31. doi: 10.1002/ajmg.a.36738. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25250687

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Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism.

Loeffler J, Soelder E, Erdel M, Utermann B, Janecke A, Duba HC, Utermann G. Loeffler J, et al. Among authors: duba hc. Am J Med Genet A. 2003 Jan 30;116A(3):290-4. doi: 10.1002/ajmg.a.10902. Am J Med Genet A. 2003. PMID: 12503109 Review.

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Hepatosplenic gammadelta-T-cell lymphoma with leukemic course after renal transplantation.

Steurer M, Stauder R, Grünewald K, Gunsilius E, Duba HC, Gastl G, Dirnhofer S. Steurer M, et al. Among authors: duba hc. Hum Pathol. 2002 Feb;33(2):253-8. doi: 10.1053/hupa.2002.31301. Hum Pathol. 2002. PMID: 11957154

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High rate of molecular alteration in histologically tumour-free bronchial epithelium of NSCLC patients detected by multicolour fluorescence in situ hybridisation.

Hilbe W, Auberger J, Dirnhofer S, Schmid T, Erdel M, Duba HC. Hilbe W, et al. Among authors: duba hc. Oncol Rep. 2006 May;15(5):1233-40. Oncol Rep. 2006. PMID: 16596192

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Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.

Miltenberger-Miltenyi G, Schwarzbraun T, Löscher WN, Wanschitz J, Windpassinger C, Duba HC, Seidl R, Albrecht G, Weirich-Schwaiger H, Zoller H, Utermann G, Auer-Grumbach M, Janecke AR. Miltenberger-Miltenyi G, et al. Among authors: duba hc. Eur J Hum Genet. 2009 Sep;17(9):1154-9. doi: 10.1038/ejhg.2009.29. Epub 2009 Mar 4. Eur J Hum Genet. 2009. PMID: 19259128 Free PMC article.

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Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism.

Frühmesser A, Erdel M, Duba HC, Fauth C, Amberger A, Utermann G, Zschocke J, Kotzot D. Frühmesser A, et al. Among authors: duba hc. Eur J Med Genet. 2013 Jul;56(7):383-8. doi: 10.1016/j.ejmg.2013.04.003. Epub 2013 Apr 19. Eur J Med Genet. 2013. PMID: 23608969

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Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.

Bernkopf M, Webersinke G, Tongsook C, Koyani CN, Rafiq MA, Ayaz M, Müller D, Enzinger C, Aslam M, Naeem F, Schmidt K, Gruber K, Speicher MR, Malle E, Macheroux P, Ayub M, Vincent JB, Windpassinger C, Duba HC. Bernkopf M, et al. Among authors: duba hc. Hum Mol Genet. 2014 Aug 1;23(15):4015-23. doi: 10.1093/hmg/ddu115. Epub 2014 Mar 13. Hum Mol Genet. 2014. PMID: 24626631 Free PMC article.

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Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.

Obenauf AC, Schwarzbraun T, Auer M, Hoffmann EM, Waldispuehl-Geigl J, Ulz P, Günther B, Duba HC, Speicher MR, Geigl JB. Obenauf AC, et al. Among authors: duba hc. J Cell Mol Med. 2010 Aug;14(8):2078-84. doi: 10.1111/j.1582-4934.2010.01116.x. J Cell Mol Med. 2010. PMID: 20597996 Free PMC article.

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An excess of chromosome 1 breakpoints in male infertility.

Bache I, Assche EV, Cingoz S, Bugge M, Tümer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, Fitzpatrick DR, Grace E, Hansmann I, Hultén M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, van der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N. Bache I, et al. Among authors: duba hc. Eur J Hum Genet. 2004 Dec;12(12):993-1000. doi: 10.1038/sj.ejhg.5201263. Eur J Hum Genet. 2004. PMID: 15367911

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