A de novo paradigm for male infertility

M. S. Oud, R. M. Smits, H. E. Smith, F. K. Mastrorosa, G. S. Holt, B. J. Houston, P. F. Vries, B. K. S. Alobaidi, L. E. Batty, H. Ismail, J. Greenwood, H. Sheth, A. Mikulasova, G. D. N. Astuti, C. Gilissen, K. McEleny, H. Turner, J. Coxhead, S. Cockell, D. D. M. Braat, K. Fleischer, K. W. M. D’Hauwers, E. Schaafsma, L. Nagirnaja, D. F. Conrad, C. Friedrich, S. Kliesch, K. I. Aston, A. Riera-Escamilla, C. Krausz, C. Gonzaga-Jauregui, M. Santibanez-Koref, D. J. Elliott, L. E. L. M. Vissers, F. Tüttelmann, M. K. O’Bryan, L. Ramos, M. J. Xavier, G. W. Heijden and J. A. Veltman ()
Additional contact information
M. S. Oud: Radboudumc
R. M. Smits: Radboudumc
H. E. Smith: Newcastle University
F. K. Mastrorosa: Newcastle University
G. S. Holt: Newcastle University
B. J. Houston: The University of Melbourne
P. F. Vries: Radboudumc
B. K. S. Alobaidi: Newcastle University
L. E. Batty: Newcastle University
H. Ismail: Newcastle University
J. Greenwood: The Newcastle upon Tyne Hospitals NHS Foundation Trust
H. Sheth: Institute of Human Genetics
A. Mikulasova: Newcastle University
G. D. N. Astuti: Radboudumc
C. Gilissen: Radboudumc
K. McEleny: The Newcastle upon Tyne Hospitals NHS Foundation Trust
H. Turner: The Newcastle upon Tyne Hospitals NHS Foundation Trust
J. Coxhead: Newcastle University
S. Cockell: castle University
D. D. M. Braat: Radboudumc
K. Fleischer: Radboudumc
K. W. M. D’Hauwers: Radboudumc
E. Schaafsma: Radboudumc
L. Nagirnaja: Oregon Health & Science University
D. F. Conrad: Oregon Health & Science University
C. Friedrich: University of Münster
S. Kliesch: University Hospital Münster
K. I. Aston: University of Utah School of Medicine
A. Riera-Escamilla: Instituto de Investigaciones Biomédicas Sant Pau (IIB-Sant Pau)
C. Krausz: University of Florence
C. Gonzaga-Jauregui: Regeneron Genetics Center
M. Santibanez-Koref: Newcastle University
D. J. Elliott: Newcastle University
L. E. L. M. Vissers: Radboudumc
F. Tüttelmann: University of Münster
M. K. O’Bryan: The University of Melbourne
L. Ramos: Radboudumc
M. J. Xavier: Newcastle University
G. W. Heijden: Radboudumc
J. A. Veltman: Newcastle University

Nature Communications, 2022, vol. 13, issue 1, 1-10

Abstract: Abstract De novo mutations are known to play a prominent role in sporadic disorders with reduced fitness. We hypothesize that de novo mutations play an important role in severe male infertility and explain a portion of the genetic causes of this understudied disorder. To test this hypothesis, we utilize trio-based exome sequencing in a cohort of 185 infertile males and their unaffected parents. Following a systematic analysis, 29 of 145 rare (MAF

Date: 2022
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Citations: View citations in EconPapers (2)

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DOI: 10.1038/s41467-021-27132-8

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