Publications

Newcastle and Nijmegen University

• Oud MS, Ramos L, O’Bryan MK, Mclachlan RI, Okutman O, Viville S, de Vries PF, Smeets DF, Lugtenberg D, Hehir-Kwa JY, Gilissen C, van de Vorst M, Vissers LE, Hoischen A, Meijerink AM, Fleischer K, Veltman JA, Noordam MJ. Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia. Human Mutation 2017. 38(11): 1592-1605.

Utah University

• Jenkins TG, Aston KI, Pflueger C, Cairns BR, Carrell DT. Age-associated sperm DNA methylation alterations: possible implications in offspring disease susceptibility. PLoS Genet. 2014 Jul;10(7):e1004458.

• Lopes AM, Aston KI, Thompson E, Carvalho F, Goncalves J, Huang N, Matthiesen R, Noordam MJ, Quintela I, Ramu A, Seabra C, Wilfert AB, Dai J, Downie JM, Fernandes S, Guo X, Sha J, Amorim A, Barros A, Carracedo A, Hu Z, Hurles ME, Moskovtsev S, Ober C, Paduch DA, Schiffman JD, Schlegel PN, Sousa M, Carrell DT, Conrad DF. Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PLoS Genet. 2013 Mar;9(3):e1003349. 

University of Münster

• Tüttelmann F, Ruckert C, Röpke A. Disorders of spermatogenesis: Perspectives for novel genetic diagnostics after 20 years of unchanged routine. Med Genet 30:12-20 (2018)

• Borgmann J, Tüttelmann F, Dworniczak B, Röpke A, Song HW, Kliesch S, Wilkinson MF, Laurentino S, Gromoll J. The human RHOX gene cluster: target genes and functional analysis of gene variants in infertile men. Hum Mol Genet 25:4898-4910 (2016)

• Yatsenko AN, Georgiadis AP, Röpke A, Berman AJ, Jaffe T, Olszewska M, Westernströer B, Sanfilippo J, Kurpisz M, Rajkovic A, Yatsenko SA, Kliesch S, Schlatt S, Tüttelmann F. X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men.
  N Engl J Med 372:2097-107 (2015)

• Tüttelmann F, Simoni M, Kliesch S, Ledig S, Dworniczak B, Wieacker P, Röpke A. Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome.
  PLoS One 6:e19426 (2011)

Monash University

• Dunleavy JEM, Okuda H, O’Connor AE, Merriner DJ, O’Donnell L, Jamsai D, Bergmann M, O’Bryan MK. Katanin-like 2 (KATNAL2) functions in multiple aspects of haploid male germ cell development in the mouse. PLoS Genet. 2017 Nov 14;13(11):e1007078. doi: 10.1371/journal.pgen.1007078. eCollection 2017 Nov.

• Lim SL, Qu ZP, Kortschak RD, Lawrence DM, Geoghegan J, Hempfling AL, Bergmann M, Goodnow CC, Ormandy CJ, Wong L, Mann J, Scott HS, Jamsai D, Adelson DL, O’Bryan MK. HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse. PLoS Genet. 2015 Oct 23;11(10):e1005620. doi: 10.1371/journal.pgen.1005620. eCollection 2015 Oct. Erratum in: PLoS Genet. 2015 Dec;11(12):e1005782.

• Liu Y, DeBoer K, de Kretser DM, O’Donnell L, O’Connor AE, Merriner DJ, Okuda H, Whittle B, Jans DA, Efthymiadis A, McLachlan RI, Ormandy CJ, Goodnow CC, Jamsai D, O’Bryan MK. LRGUK-1 is required for basal body and manchette function during spermatogenesis and male fertility. PLoS Genet. 2015 Mar 17;11(3):e1005090. doi: 10.1371/journal.pgen.1005090.

• O’Bryan MK, Clark BJ, McLaughlin EA, D’Sylva RJ, O’Donnell L, Wilce JA, Sutherland J, O’Connor AE, Whittle B, Goodnow CC, Ormandy CJ, Jamsai D. RBM5 is a male germ cell splicing factor and is required for spermatid differentiation and male fertility. PLoS Genet. 2013;9(7):e1003628. doi: 10.1371/journal.pgen.1003628. Epub 2013 Jul 25.

• Lo JC, Jamsai D, O’Connor AE, Borg C, Clark BJ, Whisstock JC, Field MC, Adams V, Ishikawa T, Aitken RJ, Whittle B, Goodnow CC, Ormandy CJ, O’Bryan MK. RAB-like 2 has an essential role in male fertility, sperm intra-flagellar transport, and tail assembly. PLoS Genet. 2012;8(10):e1002969. doi: 10.1371/journal.pgen.1002969. Epub 2012 Oct 4.

Copenhagen University

• Winge SB, Dalgaard MD, Jensen JM, Graem N, Schierup MH, Juul A, Rajpert-De Meyts E, Almstrup K. Transcriptome profiling of fetal Klinefelter testis tissue reveals a possible involvement of long non-coding RNAs in gonocyte maturation. Hum Mol Genet – in press. doi: 10.1093/hmg/ddx411 

• Mørup N, Busch AS, Bang AK, Nordkap L, Nielsen JE, Rajpert-De Meyts E, Juul A, Jørgensen N, Almstrup K. Polymorphisms in JMJD1C are associated with pubertal onset in boys and adult reproductive function in men. Sci Reports 2017; 7(1):17242. doi: 10.1038/s41598-017-17575-9.

• Wang Z, McGlynn KA, Rajpert-De Meyts E, Bishop DT, Chung C, Dalgaard MD, Greene MH, Gupta R, Grotmol T, Haugen TB, Karlsson R, Litchfield K, Mitra N, Nielsen K, Pyle LC, Schwartz SM, Thorsson V, Vardhanabhuti S, Wiklund F, Turnbull C, Chanock SJ, Kanetsky PA, Nathanson KL for the Testicular Cancer Consortium. Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor. Nat Genet 2017; 49, 1141–1147. doi:10.1038/ng.3879.

• Lottrup G, Belling K, Leffers H, Nielsen JE, Dalgaard MD, Juul A, Skakkebæk NE, Brunak S, Rajpert-De Meyts E. Comparison of global gene expression profiles of microdissected human foetal Leydig cells with their normal and hyperplastic adult equivalents. Mol Hum Reprod 2017; 23 (5): 339-354. doi: 10.1093/molehr/gax012

• Belling K, Russo F, Jensen AB, Dalgaard MD, Westergaard D, Rajpert-De Meyts E, Skakkebæk NE, Juul A, Brunak S. Klinefelter syndrome comorbidities linked to increased X chromosome gene dosage and altered protein interactome activity. Hum Mol Genet 2017;26 (7): 1219-1229. doi: 10.1093/hmg/ddx014. 

• Olesen IA, Andersson AM, Aksglaede L, Skakkebaek NE, Rajpert-De Meyts E, Joergensen N, Juul A. Clinical, genetic, biochemical and testicular biopsy findings among 1213 men evaluated for infertility. Fertil Steril 2017; 107(1): 74-82.e7. doi: 10.1016/j.fertnstert.2016.09.015.

Florence University

• Krausz C, Riera-Escamilla A. Genetics of male infertility. Nat Rev Urol. 2018 Apr 5. doi: 10.1038/s41585-018-0003-3.

•  Krausz C, Cioppi F, Riera-Escamilla A. Testing for genetic contributions to infertility: potential clinical impact. Expert Rev Mol Diagn. 2018 ;18(4):331-346.

•  Krausz C, Casamonti E. Spermatogenic failure and the Y chromosome. Hum Genet. 2017; 136(5):637-655.

•  Tournaye H, Krausz C, Oates RD. Novel concepts in the aetiology of male reproductive impairment. Lancet Diabetes Endocrinol. 2017 Jul;5(7):544-553

•  Lo Giacco D, Chianese C, Ars E, Ruiz-Castañé E, Forti G, Krausz C. Recurrent X chromosome-linked deletions: discovery of new genetic factors in male infertility. J Med Genet. 2014;51(5):340-4.

•  Giachini C, Nuti F, Turner DJ, Laface I, Xue Y, Daguin F, Forti G,Tyler-Smith C, Krausz C. TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages. J Clin Endocrinol Metab. 2009; 94(10):4016-22

•  Tyler-Smith C, Krausz C. The will-o’-the-wisp of genetics–hunting for the azoospermia factor gene. N Engl J Med. 2009, 26;360(9):925-7

•  Giachini C, Laface I, Guarducci E, Balercia G, Forti G, Krausz C. Partial AZFc deletions and duplications: clinical correlates in the Italian population. Hum Genet. 2008;124(4):399-410

•  Krausz C, Degl’Innocenti S, Nuti F, Morelli A, Felici F, Sansone M, Varriale G, Forti G. Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertility. Hum Mol Genet. 2006; 15;15(18):2673-81

•  Krausz C, Quintana-Murci L, Rajpert-De Meyts E, Jørgensen N, Jobling MA, Rosser ZH, Skakkebaek NE, McElreavey K. Identification of a Y chromosome haplogroup associated with reduced sperm counts. Hum Mol Genet. 2001;10(18):1873-7.