Repair capacity and genome diversity in mammals

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

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

Origins and mechanisms leading to aneuploidy in human eggs.

Auteurs: Lena Wartosch; Karen Schindler; Melina Schuh; Jennifer R. Gruhn; Eva Hoffmann; Rajiv C. McCoy; Jinchuan Xing
Publié dans: 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, Numéro 2, 2020, ISSN 1097-0223
Éditeur: Wiley
DOI: 10.1002/pd.5927

Genetic insights into biological mechanisms governing human ovarian ageing

Auteurs: 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
Publié dans: Nature, Numéro 596, 2021, Page(s) 393-397, ISSN 0028-0836
Éditeur: 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

Auteurs: 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
Publié dans: Reproductive Medicine Online, Numéro 45, 2022, Page(s) 508-518, ISSN 1472-6491
Éditeur: 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

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

A distinctive epigenetic ageing profile in human granulosa cells

Auteurs: 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
Publié dans: Human Reproduction, Numéro 35/6, 2020, Page(s) 1332-1345, ISSN 0268-1161
Éditeur: Oxford University Press
DOI: 10.1093/humrep/deaa071

Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency

Auteurs: 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
Publié dans: Nature Medicine, Numéro 29, 2023, Page(s) 1692-1699, ISSN 1078-8956
Éditeur: 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

Auteurs: Ivan Vogel; Lishan Cai; Lea Jerman-Plesec; Eva Hoffmann
Publié dans: F1000Research, Numéro 1, 2021, ISSN 2046-1402
Éditeur: 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

Auteurs: 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
Publié dans: The Lancet, Numéro 401, 2023, Page(s) 762-771, ISSN 1474-547X
Éditeur: Elsevier
DOI: 10.1016/s0140-6736(22)02610-1

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

Auteurs: 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
Publié dans: American Journal of Human Genetics, Numéro 1, 2021, ISSN 0002-9297
Éditeur: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.11.002

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

Auteurs: 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
Publié dans: Science, Numéro 365/6460, 2019, Page(s) 1466-1469, ISSN 0036-8075
Éditeur: American Association for the Advancement of Science
DOI: 10.1126/science.aav7321

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

Auteurs: 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
Publié dans: Current Biology, Numéro 29/22, 2019, Page(s) 3749-3765.e7, ISSN 0960-9822
Éditeur: 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

Auteurs: Ivan Vogel, Robert C Blanshard, Eva R Hoffmann
Publié dans: Bioinformatics, Numéro 35/23, 2019, Page(s) 5055-5062, ISSN 1367-4803
Éditeur: Oxford University Press
DOI: 10.1093/bioinformatics/btz412

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

Auteurs: Lucie Knoblochova, Tomas Duricek, Michaela Vaskovicova, Chrysoula Zorzompokou, Diana Rayova, Ivana Ferencova, Vladimir Baran, Richard M Schultz, Eva R Hoffmann, David Drutovic
Publié dans: EMBO Reports, Numéro e56530, 2023, ISSN 1469-3178
Éditeur: 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

Auteurs: Jennifer R Gruhn, Eva Hoffmann
Publié dans: Annual Review of Genetics, Numéro 56, 2022, Page(s) 369-390, ISSN 0066-4197
Éditeur: 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

Auteurs: 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
Publié dans: Journal of Assisted Reproduction and Genetics, Numéro 37, 2020, Page(s) 891-904, ISSN 1573-7330
Éditeur: Springer
DOI: 10.1007/s10815-020-01724-7

Cas9 in Human Embryos: On Target but No Repair

Auteurs: Eva R. Hoffmann, Ignasi Roig
Publié dans: Cell, Numéro 183, 2020, Page(s) 1464-1466, ISSN 1097-4172
Éditeur: Cell Press
DOI: 10.1016/j.cell.2020.11.022

Monogenic causes of Premature Ovarian Insufficiency are rare and mostly recessive

Auteurs: 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
Publié dans: medRxiv, 2022
Éditeur: medRxiv
DOI: 10.1101/2022.11.21.22282589

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

Auteurs: 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
Publié dans: medRxiv, 2022
Éditeur: medRxiv
DOI: 10.1101/2022.06.23.22276698

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

Auteurs: Robert C. Blanshard, Chongyi Chen, Xiaoliang Sunney Xie, Eva R. Hoffmann
Publié dans: Mitosis and Meiosis Part A, Numéro 144, 2018, Page(s) 441-457, ISBN 9780-128141441
Éditeur: Elsevier
DOI: 10.1016/bs.mcb.2018.03.037

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