Publications

Consortium 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 oligozoospermiaHuman Mutation. 2017;38(11):1592-1605.

 

University of Utah

Aston KI, Uren PJ, Jenkins TG, Horsager A, Cairns BR, Smith AD, Carrell DT. Aberrant sperm DNA methylation predicts male fertility status and embryo quality. Fertil Steril. 2015;104(6):1388-97.e1-5.

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;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;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. 2018;30:12-20.

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. 2016;25:4898-4910.

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. 2015;372:2097-107.

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. 2011;6:e19426.

 

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;13(11):e1007078.

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;11(10):e1005620. Erratum in: PLoS Genet. 2015;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;11(3):e1005090.

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.

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.

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. 2018;27(3):430-439.

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.

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.

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.

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.

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

Florence University

Krausz C, Riera-Escamilla A. Genetics of male infertility. Nat Rev Urol. 2018;15(6):369-384.

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;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(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.