Repair capacity and genome diversity in mammals

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

Autori: Simon Grund Sørensen, Amruta Shrikhande, Gustav Alexander Poulsgaard, Mikkel Hovden Christensen, Johanna Bertl, Britt Elmedal Laursen , Eva R Hoffmann, Jakob Skou Pedersen
Pubblicato in: eLife, Numero 12, 2023, Pagina/e e81224, ISSN 2050-084X
Editore: eLife Sciences Publications
DOI: 10.7554/elife.81224

Origins and mechanisms leading to aneuploidy in human eggs.

Autori: Lena Wartosch; Karen Schindler; Melina Schuh; Jennifer R. Gruhn; Eva Hoffmann; Rajiv C. McCoy; Jinchuan Xing
Pubblicato 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, Numero 2, 2020, ISSN 1097-0223
Editore: Wiley
DOI: 10.1002/pd.5927

Genetic insights into biological mechanisms governing human ovarian ageing

Autori: 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
Pubblicato in: Nature, Numero 596, 2021, Pagina/e 393-397, ISSN 0028-0836
Editore: 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

Autori: 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
Pubblicato in: Reproductive Medicine Online, Numero 45, 2022, Pagina/e 508-518, ISSN 1472-6491
Editore: 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

Autori: Antonio Capalbo, Maurizio Poli, Antoni Riera-Escamilla, Vallari Shukla, Miya Kudo Høffding, Csilla Krausz, Eva R Hoffmann, Carlos Simon
Pubblicato in: Human Reproduction Update, Numero 27/2, 2020, Pagina/e 254-279, ISSN 1355-4786
Editore: Oxford University Press
DOI: 10.1093/humupd/dmaa044

A distinctive epigenetic ageing profile in human granulosa cells

Autori: 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
Pubblicato in: Human Reproduction, Numero 35/6, 2020, Pagina/e 1332-1345, ISSN 0268-1161
Editore: Oxford University Press
DOI: 10.1093/humrep/deaa071

Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency

Autori: 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
Pubblicato in: Nature Medicine, Numero 29, 2023, Pagina/e 1692-1699, ISSN 1078-8956
Editore: 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

Autori: Ivan Vogel; Lishan Cai; Lea Jerman-Plesec; Eva Hoffmann
Pubblicato in: F1000Research, Numero 1, 2021, ISSN 2046-1402
Editore: 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

Autori: 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
Pubblicato in: The Lancet, Numero 401, 2023, Pagina/e 762-771, ISSN 1474-547X
Editore: Elsevier
DOI: 10.1016/s0140-6736(22)02610-1

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

Autori: 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
Pubblicato in: American Journal of Human Genetics, Numero 1, 2021, ISSN 0002-9297
Editore: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.11.002

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

Autori: 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
Pubblicato in: Science, Numero 365/6460, 2019, Pagina/e 1466-1469, ISSN 0036-8075
Editore: American Association for the Advancement of Science
DOI: 10.1126/science.aav7321

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

Autori: 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
Pubblicato in: Current Biology, Numero 29/22, 2019, Pagina/e 3749-3765.e7, ISSN 0960-9822
Editore: 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

Autori: Ivan Vogel, Robert C Blanshard, Eva R Hoffmann
Pubblicato in: Bioinformatics, Numero 35/23, 2019, Pagina/e 5055-5062, ISSN 1367-4803
Editore: Oxford University Press
DOI: 10.1093/bioinformatics/btz412

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

Autori: Lucie Knoblochova, Tomas Duricek, Michaela Vaskovicova, Chrysoula Zorzompokou, Diana Rayova, Ivana Ferencova, Vladimir Baran, Richard M Schultz, Eva R Hoffmann, David Drutovic
Pubblicato in: EMBO Reports, Numero e56530, 2023, ISSN 1469-3178
Editore: 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

Autori: Jennifer R Gruhn, Eva Hoffmann
Pubblicato in: Annual Review of Genetics, Numero 56, 2022, Pagina/e 369-390, ISSN 0066-4197
Editore: 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

Autori: 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
Pubblicato in: Journal of Assisted Reproduction and Genetics, Numero 37, 2020, Pagina/e 891-904, ISSN 1573-7330
Editore: Springer
DOI: 10.1007/s10815-020-01724-7

Cas9 in Human Embryos: On Target but No Repair

Autori: Eva R. Hoffmann, Ignasi Roig
Pubblicato in: Cell, Numero 183, 2020, Pagina/e 1464-1466, ISSN 1097-4172
Editore: Cell Press
DOI: 10.1016/j.cell.2020.11.022

Monogenic causes of Premature Ovarian Insufficiency are rare and mostly recessive

Autori: 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
Pubblicato in: medRxiv, 2022
Editore: medRxiv
DOI: 10.1101/2022.11.21.22282589

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

Autori: 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
Pubblicato in: medRxiv, 2022
Editore: medRxiv
DOI: 10.1101/2022.06.23.22276698

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

Autori: Robert C. Blanshard, Chongyi Chen, Xiaoliang Sunney Xie, Eva R. Hoffmann
Pubblicato in: Mitosis and Meiosis Part A, Numero 144, 2018, Pagina/e 441-457, ISBN 9780-128141441
Editore: Elsevier
DOI: 10.1016/bs.mcb.2018.03.037

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