Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

Manon S. Oud; Liliana Ramos; Moira K. O'Bryan; Robert I. McLachlan; Ozlem Okutman; Stephane Viville; Petra F. de Vries; Dominique F. C. M. Smeets; Dorien Lugtenberg; Jayne Y. Hehir-Kwa; Christian Gilissen; Maartje van de Vorst; Lisenka E. L. M. Vissers; Alexander Hoischen; Aukje M. Meijerink; Kathrin Fleischer; Joris A. Veltman; Michiel J. Noordam

doi:10.1002/humu.23312

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

Manon S. Oud, Liliana Ramos, Moira K. O'Bryan, Robert I. McLachlan, Ozlem Okutman, Stephane Viville, Petra F. de Vries, Dominique F. C. M. Smeets, Dorien Lugtenberg, Jayne Y. Hehir-Kwa, Christian Gilissen, Maartje van de Vorst, Lisenka E. L. M. Vissers, Alexander Hoischen, Aukje M. Meijerink, Kathrin Fleischer, Joris A. Veltman^*, Michiel J. Noordam

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	1592-1605
Number of pages	14
Journal	Human Mutation
Volume	38
Issue number	11
DOIs	https://doi.org/10.1002/humu.23312
Publication status	Published - Nov 2017

Keywords

Azoospermia
CBAVD
CFTR
Diagnostics
Male Infertility
Oligozoospermia
Reproduction
smMIPs
Targeted Sequencing
MOLECULAR INVERSION PROBES
HUMAN Y-CHROMOSOME
CONGENITAL BILATERAL ABSENCE
MALE-INFERTILITY
VAS-DEFERENS
DPY19L2 DELETION
CYSTIC-FIBROSIS
HIGH-THROUGHPUT
MEIOTIC ARREST
MUTATIONS

Access to Document

10.1002/humu.23312

Cite this

Oud, M. S., Ramos, L., O'Bryan, M. K., McLachlan, R. I., Okutman, O., Viville, S., de Vries, P. F., Smeets, D. F. C. M., Lugtenberg, D., Hehir-Kwa, J. Y., Gilissen, C., van de Vorst, M., Vissers, L. E. L. M., Hoischen, A., Meijerink, A. M., Fleischer, K., Veltman, J. A., & Noordam, M. J. (2017). 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, 38(11), 1592-1605. https://doi.org/10.1002/humu.23312

Oud, Manon S. ; Ramos, Liliana ; O'Bryan, Moira K. ; McLachlan, Robert I. ; Okutman, Ozlem ; Viville, Stephane ; de Vries, Petra F. ; Smeets, Dominique F. C. M. ; Lugtenberg, Dorien ; Hehir-Kwa, Jayne Y. ; Gilissen, Christian ; van de Vorst, Maartje ; Vissers, Lisenka E. L. M. ; Hoischen, Alexander ; Meijerink, Aukje M. ; Fleischer, Kathrin ; Veltman, Joris A. ; Noordam, Michiel J. / Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia. In: Human Mutation. 2017 ; Vol. 38, No. 11. pp. 1592-1605.

@article{cb24213f5e6e4182ac15050e266cb95a,

title = "Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia",

keywords = "Azoospermia, CBAVD, CFTR, Diagnostics, Male Infertility, Oligozoospermia, Reproduction, smMIPs, Targeted Sequencing, MOLECULAR INVERSION PROBES, HUMAN Y-CHROMOSOME, CONGENITAL BILATERAL ABSENCE, MALE-INFERTILITY, VAS-DEFERENS, DPY19L2 DELETION, CYSTIC-FIBROSIS, HIGH-THROUGHPUT, MEIOTIC ARREST, MUTATIONS",

author = "Oud, {Manon S.} and Liliana Ramos and O'Bryan, {Moira K.} and McLachlan, {Robert I.} and Ozlem Okutman and Stephane Viville and {de Vries}, {Petra F.} and Smeets, {Dominique F. C. M.} and Dorien Lugtenberg and Hehir-Kwa, {Jayne Y.} and Christian Gilissen and {van de Vorst}, Maartje and Vissers, {Lisenka E. L. M.} and Alexander Hoischen and Meijerink, {Aukje M.} and Kathrin Fleischer and Veltman, {Joris A.} and Noordam, {Michiel J.}",

year = "2017",

month = nov,

doi = "10.1002/humu.23312",

language = "English",

volume = "38",

pages = "1592--1605",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley",

number = "11",

}

Oud, MS, Ramos, L, O'Bryan, MK, McLachlan, RI, Okutman, O, Viville, S, de Vries, PF, Smeets, DFCM, Lugtenberg, D, Hehir-Kwa, JY, Gilissen, C, van de Vorst, M, Vissers, LELM, Hoischen, A, Meijerink, AM, Fleischer, K, Veltman, JA & Noordam, MJ 2017, '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, vol. 38, no. 11, pp. 1592-1605. https://doi.org/10.1002/humu.23312

Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia. / Oud, Manon S.; Ramos, Liliana; O'Bryan, Moira K.; McLachlan, Robert I.; Okutman, Ozlem; Viville, Stephane; de Vries, Petra F.; Smeets, Dominique F. C. M.; Lugtenberg, Dorien; Hehir-Kwa, Jayne Y.; Gilissen, Christian; van de Vorst, Maartje; Vissers, Lisenka E. L. M.; Hoischen, Alexander; Meijerink, Aukje M.; Fleischer, Kathrin; Veltman, Joris A.; Noordam, Michiel J.

In: Human Mutation, Vol. 38, No. 11, 11.2017, p. 1592-1605.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia

AU - Oud, Manon S.

AU - Ramos, Liliana

AU - O'Bryan, Moira K.

AU - McLachlan, Robert I.

AU - Okutman, Ozlem

AU - Viville, Stephane

AU - de Vries, Petra F.

AU - Smeets, Dominique F. C. M.

AU - Lugtenberg, Dorien

AU - Hehir-Kwa, Jayne Y.

AU - Gilissen, Christian

AU - van de Vorst, Maartje

AU - Vissers, Lisenka E. L. M.

AU - Hoischen, Alexander

AU - Meijerink, Aukje M.

AU - Fleischer, Kathrin

AU - Veltman, Joris A.

AU - Noordam, Michiel J.

PY - 2017/11

Y1 - 2017/11

KW - Azoospermia

KW - CBAVD

KW - CFTR

KW - Diagnostics

KW - Male Infertility

KW - Oligozoospermia

KW - Reproduction

KW - smMIPs

KW - Targeted Sequencing

KW - MOLECULAR INVERSION PROBES

KW - HUMAN Y-CHROMOSOME

KW - CONGENITAL BILATERAL ABSENCE

KW - MALE-INFERTILITY

KW - VAS-DEFERENS

KW - DPY19L2 DELETION

KW - CYSTIC-FIBROSIS

KW - HIGH-THROUGHPUT

KW - MEIOTIC ARREST

KW - MUTATIONS

U2 - 10.1002/humu.23312

DO - 10.1002/humu.23312

M3 - Article

C2 - 28801929

VL - 38

SP - 1592

EP - 1605

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 11

ER -