Repair capacity and genome diversity in mammals

Project Information

ReCAP

Grant agreement ID: 724718

DOI 10.3030/724718

Project closed

EC signature date 8 June 2017

Start date 1 July 2017

End date 30 June 2023

Funded under

• EXCELLENT SCIENCE - European Research Council (ERC)

Total cost € 1 997 592,92

EU contribution € 1 997 592,92

Coordinated by

KOBENHAVNS UNIVERSITET
Denmark

Publications

Peer reviewed articles (16)

Pan-cancer association of DNA repair deficiencies with whole-genome mutational patterns

Author(s): Simon Grund Sørensen, Amruta Shrikhande, Gustav Alexander Poulsgaard, Mikkel Hovden Christensen, Johanna Bertl, Britt Elmedal Laursen , Eva R Hoffmann, Jakob Skou Pedersen
Published in: eLife, Issue 12, 2023, Page(s) e81224, ISSN 2050-084X
Publisher: eLife Sciences Publications
DOI: 10.7554/elife.81224

Origins and mechanisms leading to aneuploidy in human eggs.

Author(s): Lena Wartosch; Karen Schindler; Melina Schuh; Jennifer R. Gruhn; Eva Hoffmann; Rajiv C. McCoy; Jinchuan Xing
Published in: Wartosch , L , Schindler , K , Schuh , M , Gruhn , J R , Hoffmann , E R , Mccoy , R C & Xing , J 2021 , ' Origins and mechanisms leading to aneuploidy in human eggs ' , Prenatal Diagnosis , vol. 41 , no. 5 , pp. 620-630 . https://doi.org/10.1002/pd.5927, Issue 2, 2020, ISSN 1097-0223
Publisher: Wiley
DOI: 10.1002/pd.5927

Genetic insights into biological mechanisms governing human ovarian ageing

Author(s): Katherine S. Ruth, Felix R. Day, Jazib Hussain, Ana Martínez-Marchal, Catherine E. Aiken, Ajuna Azad, Deborah J. Thompson, Lucie Knoblochova, Hironori Abe, Jane L. Tarry-Adkins, Javier Martin Gonzalez, Pierre Fontanillas, Annique Claringbould, Olivier B. Bakker, Patrick Sulem, Robin G. Walters, Chikashi Terao, Sandra Turon, Momoko Horikoshi, Kuang Lin, N. Charlotte Onland-Moret, Aditya Sankar, Em
Published in: Nature, Issue 596, 2021, Page(s) 393-397, ISSN 0028-0836
Publisher: Nature Publishing Group
DOI: 10.1038/s41586-021-03779-7

Maternal exome analysis for the diagnosis of oocyte maturation defects and early embryonic developmental arrest

Author(s): Antonio Capalbo, Silvia Buonaiuto, Matteo Figliuzzi, Gianluca Damaggio, Laura Girardi, Silvia Caroselli, Maurizio Poli, Cristina Patassini, Murat Cetinkaya, Beril Yuksel, Ajuna Azad, Marie Louise Grøndahl, Eva R Hoffmann, Carlos Simón, Vincenza Colonna, Semra Kahraman
Published in: Reproductive Medicine Online, Issue 45, 2022, Page(s) 508-518, ISSN 1472-6491
Publisher: Elsevier
DOI: 10.1016/j.rbmo.2022.05.009

Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data

Author(s): Antonio Capalbo, Maurizio Poli, Antoni Riera-Escamilla, Vallari Shukla, Miya Kudo Høffding, Csilla Krausz, Eva R Hoffmann, Carlos Simon
Published in: Human Reproduction Update, Issue 27/2, 2020, Page(s) 254-279, ISSN 1355-4786
Publisher: Oxford University Press
DOI: 10.1093/humupd/dmaa044

A distinctive epigenetic ageing profile in human granulosa cells

Author(s): K W Olsen, J Castillo-Fernandez, A Zedeler, N C Freiesleben, M Bungum, A C Chan, A Cardona, J R B Perry, S O Skouby, R Borup, E R Hoffmann, G Kelsey, M L Grøndahl
Published in: Human Reproduction, Issue 35/6, 2020, Page(s) 1332-1345, ISSN 0268-1161
Publisher: Oxford University Press
DOI: 10.1093/humrep/deaa071

Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency

Author(s): Saleh Shekari, Stasa Stankovic, Eugene J Gardner, Gareth Hawkes, Katherine A Kentistou, Robin N Beaumont, Alexander Mörseburg, Andrew R Wood, Julia K Prague, Gita D Mishra, Felix R Day, Julia Baptista, Caroline F Wright, Michael N Weedon, Eva R Hoffmann, Katherine S Ruth, Ken K Ong, John R B Perry, Anna Murray
Published in: Nature Medicine, Issue 29, 2023, Page(s) 1692-1699, ISSN 1078-8956
Publisher: Nature Publishing Group
DOI: 10.1038/s41591-023-02405-5

SureTypeSCR: R package for rapid quality control and genotyping of SNP arrays from single cells

Author(s): Ivan Vogel; Lishan Cai; Lea Jerman-Plesec; Eva Hoffmann
Published in: F1000Research, Issue 1, 2021, ISSN 2046-1402
Publisher: F1000 Research Ltd.
DOI: 10.12688/f1000research.53287.1

Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study

Author(s): Tanja Schlaikjær Hartwig, Louise Ambye, Jennifer R Gruhn, Jesper Friis Petersen, Tine Wrønding, Letizia Amato, Andrew Chi-Ho Chan, Boyang Ji, Maiken Hemme Bro-Jørgensen, Lene Werge, Mette Marie Babiel Schmidt Petersen, Clara Brinkmann, Julie Birch Petersen, Morten Dunø, Iben Bache, Markus J Herrgård, Finn Stener Jørgensen, Eva R Hoffmann, Henriette Svarre Nielsen, and the COPL consortium
Published in: The Lancet, Issue 401, 2023, Page(s) 762-771, ISSN 1474-547X
Publisher: Elsevier
DOI: 10.1016/s0140-6736(22)02610-1

Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.

Author(s): Antonio Capalbo; Maurizio Poli; Laura Rienzi; Laura Girardi; Cristina Patassini; Marco Fabiani; Danilo Cimadomo; Francesca Benini; Alessio Farcomeni; J. F. Cuzzi; Carmen Rubio; Elena Albani; Laura Sacchi; Alberto Vaiarelli; Matteo Figliuzzi; Necati Findikli; Onder Coban; Fazilet Kubra Boynukalin; Ivan Vogel; Eva Hoffmann; Claudia Livi; Paolo E. Levi-Setti; Filippo Maria Ubaldi; Carlos Simón
Published in: American Journal of Human Genetics, Issue 1, 2021, ISSN 0002-9297
Publisher: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.11.002

Chromosome errors in human eggs shape natural fertility over reproductive life span

Author(s): Jennifer R. Gruhn, Agata P. Zielinska, Vallari Shukla, Robert Blanshard, Antonio Capalbo, Danilo Cimadomo, Dmitry Nikiforov, Andrew Chi-Ho Chan, Louise J. Newnham, Ivan Vogel, Catello Scarica, Marta Krapchev, Deborah Taylor, Stine Gry Kristensen, Junping Cheng, Erik Ernst, Anne-Mette Bay Bjørn, Lotte Berdiin Colmorn, Martyn Blayney, Kay Elder, Joanna Liss, Geraldine Hartshorne, Marie Louise Grøn
Published in: Science, Issue 365/6460, 2019, Page(s) 1466-1469, ISSN 0036-8075
Publisher: American Association for the Advancement of Science
DOI: 10.1126/science.aav7321

Meiotic Kinetochores Fragment into Multiple Lobes upon Cohesin Loss in Aging Eggs

Author(s): Agata P. Zielinska, Eirini Bellou, Ninadini Sharma, Ann-Sophie Frombach, K. Bianka Seres, Jennifer R. Gruhn, Martyn Blayney, Heike Eckel, Rüdiger Moltrecht, Kay Elder, Eva R. Hoffmann, Melina Schuh
Published in: Current Biology, Issue 29/22, 2019, Page(s) 3749-3765.e7, ISSN 0960-9822
Publisher: Cell Press
DOI: 10.1016/j.cub.2019.09.006

SureTypeSC—a Random Forest and Gaussian mixture predictor of high confidence genotypes in single-cell data

Author(s): Ivan Vogel, Robert C Blanshard, Eva R Hoffmann
Published in: Bioinformatics, Issue 35/23, 2019, Page(s) 5055-5062, ISSN 1367-4803
Publisher: Oxford University Press
DOI: 10.1093/bioinformatics/btz412

CHK1-CDC25A-CDK1 regulate cell cycle progression and protect genome integrity in early mouse embryos

Author(s): Lucie Knoblochova, Tomas Duricek, Michaela Vaskovicova, Chrysoula Zorzompokou, Diana Rayova, Ivana Ferencova, Vladimir Baran, Richard M Schultz, Eva R Hoffmann, David Drutovic
Published in: EMBO Reports, Issue e56530, 2023, ISSN 1469-3178
Publisher: Published for EMBO by Oxford University Press
DOI: 10.15252/embr.202256530

Errors of the Egg: The Establishment and Progression of Human Aneuploidy Research in the Maternal Germline

Author(s): Jennifer R Gruhn, Eva Hoffmann
Published in: Annual Review of Genetics, Issue 56, 2022, Page(s) 369-390, ISSN 0066-4197
Publisher: Annual Reviews, Inc.
DOI: 10.1146/annurev-genet-072820-033609

Improving the maturation rate of human oocytes collected ex vivo during the cryopreservation of ovarian tissue

Author(s): Dmitry Nikiforov, Cheng Junping, Jesus Cadenas, Vallari Shukla, Robert Blanshard, Susanne Elisabeth Pors, Stine Gry Kristensen, Kirsten Tryde Macklon, Lotte Colmorn, Erik Ernst, Anne-Mette Bay-Bjørn, Zeinab Ghezelayagh, Yu Wakimoto, Marie Louise Grøndahl, Eva Hoffmann & Claus Yding Andersen
Published in: Journal of Assisted Reproduction and Genetics, Issue 37, 2020, Page(s) 891-904, ISSN 1573-7330
Publisher: Springer
DOI: 10.1007/s10815-020-01724-7

Other (3)

Cas9 in Human Embryos: On Target but No Repair

Author(s): Eva R. Hoffmann, Ignasi Roig
Published in: Cell, Issue 183, 2020, Page(s) 1464-1466, ISSN 1097-4172
Publisher: Cell Press
DOI: 10.1016/j.cell.2020.11.022

Monogenic causes of Premature Ovarian Insufficiency are rare and mostly recessive

Author(s): Saleh Shekari, Stasa Stankovic, Eugene J. Gardner, Gareth Hawkes, Katherine A. Kentistou, Robin N. Beaumont, Alexander Mörseburg, Andrew R. Wood, Gita Mishra, Felix Day, Julia Baptista, Caroline F. Wright, Michael N. Weedon, Eva Hoffmann, Katherine S. Ruth, Ken Ong, John R. B. Perry, Anna Murray
Published in: medRxiv, 2022
Publisher: medRxiv
DOI: 10.1101/2022.11.21.22282589

Genetic susceptibility to earlier ovarian ageing increases de novo mutation rate in offspring

Author(s): Stasa Stankovic, Saleh Shekari, Qin Qin Huang, Eugene J. Gardner, Nick D. L. Owens, Ajuna Azad, Gareth Hawkes, Katherine A. Kentistou, Robin N. Beaumont, Felix R. Day, Yajie Zhao, The Genomics England Research Consortium, Kitale Kennedy, Andrew R. Wood, Michael N. Weedon, Ken K. Ong, Caroline F. Wright, Eva R. Hoffmann, Matthew E. Hurles, Katherine S. Ruth, Hilary C. Martin, John R. B. Perry, Anna
Published in: medRxiv, 2022
Publisher: medRxiv
DOI: 10.1101/2022.06.23.22276698

Book chapters (1)

Single cell genomics to study DNA and chromosome changes in human gametes and embryos

Author(s): Robert C. Blanshard, Chongyi Chen, Xiaoliang Sunney Xie, Eva R. Hoffmann
Published in: Mitosis and Meiosis Part A, Issue 144, 2018, Page(s) 441-457, ISBN 9780-128141441
Publisher: Elsevier
DOI: 10.1016/bs.mcb.2018.03.037