Repair capacity and genome diversity in mammals

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

Autores: Simon Grund Sørensen, Amruta Shrikhande, Gustav Alexander Poulsgaard, Mikkel Hovden Christensen, Johanna Bertl, Britt Elmedal Laursen , Eva R Hoffmann, Jakob Skou Pedersen
Publicado en: eLife, Edición 12, 2023, Página(s) e81224, ISSN 2050-084X
Editor: eLife Sciences Publications
DOI: 10.7554/elife.81224

Origins and mechanisms leading to aneuploidy in human eggs.

Autores: Lena Wartosch; Karen Schindler; Melina Schuh; Jennifer R. Gruhn; Eva Hoffmann; Rajiv C. McCoy; Jinchuan Xing
Publicado en: 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, Edición 2, 2020, ISSN 1097-0223
Editor: Wiley
DOI: 10.1002/pd.5927

Genetic insights into biological mechanisms governing human ovarian ageing

Autores: 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
Publicado en: Nature, Edición 596, 2021, Página(s) 393-397, ISSN 0028-0836
Editor: 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

Autores: 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
Publicado en: Reproductive Medicine Online, Edición 45, 2022, Página(s) 508-518, ISSN 1472-6491
Editor: 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

Autores: Antonio Capalbo, Maurizio Poli, Antoni Riera-Escamilla, Vallari Shukla, Miya Kudo Høffding, Csilla Krausz, Eva R Hoffmann, Carlos Simon
Publicado en: Human Reproduction Update, Edición 27/2, 2020, Página(s) 254-279, ISSN 1355-4786
Editor: Oxford University Press
DOI: 10.1093/humupd/dmaa044

A distinctive epigenetic ageing profile in human granulosa cells

Autores: 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
Publicado en: Human Reproduction, Edición 35/6, 2020, Página(s) 1332-1345, ISSN 0268-1161
Editor: Oxford University Press
DOI: 10.1093/humrep/deaa071

Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency

Autores: 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
Publicado en: Nature Medicine, Edición 29, 2023, Página(s) 1692-1699, ISSN 1078-8956
Editor: 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

Autores: Ivan Vogel; Lishan Cai; Lea Jerman-Plesec; Eva Hoffmann
Publicado en: F1000Research, Edición 1, 2021, ISSN 2046-1402
Editor: 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

Autores: 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
Publicado en: The Lancet, Edición 401, 2023, Página(s) 762-771, ISSN 1474-547X
Editor: Elsevier
DOI: 10.1016/s0140-6736(22)02610-1

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

Autores: 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
Publicado en: American Journal of Human Genetics, Edición 1, 2021, ISSN 0002-9297
Editor: University of Chicago Press
DOI: 10.1016/j.ajhg.2021.11.002

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

Autores: 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
Publicado en: Science, Edición 365/6460, 2019, Página(s) 1466-1469, ISSN 0036-8075
Editor: American Association for the Advancement of Science
DOI: 10.1126/science.aav7321

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

Autores: 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
Publicado en: Current Biology, Edición 29/22, 2019, Página(s) 3749-3765.e7, ISSN 0960-9822
Editor: 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

Autores: Ivan Vogel, Robert C Blanshard, Eva R Hoffmann
Publicado en: Bioinformatics, Edición 35/23, 2019, Página(s) 5055-5062, ISSN 1367-4803
Editor: Oxford University Press
DOI: 10.1093/bioinformatics/btz412

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

Autores: Lucie Knoblochova, Tomas Duricek, Michaela Vaskovicova, Chrysoula Zorzompokou, Diana Rayova, Ivana Ferencova, Vladimir Baran, Richard M Schultz, Eva R Hoffmann, David Drutovic
Publicado en: EMBO Reports, Edición e56530, 2023, ISSN 1469-3178
Editor: 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

Autores: Jennifer R Gruhn, Eva Hoffmann
Publicado en: Annual Review of Genetics, Edición 56, 2022, Página(s) 369-390, ISSN 0066-4197
Editor: 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

Autores: 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
Publicado en: Journal of Assisted Reproduction and Genetics, Edición 37, 2020, Página(s) 891-904, ISSN 1573-7330
Editor: Springer
DOI: 10.1007/s10815-020-01724-7

Cas9 in Human Embryos: On Target but No Repair

Autores: Eva R. Hoffmann, Ignasi Roig
Publicado en: Cell, Edición 183, 2020, Página(s) 1464-1466, ISSN 1097-4172
Editor: Cell Press
DOI: 10.1016/j.cell.2020.11.022

Monogenic causes of Premature Ovarian Insufficiency are rare and mostly recessive

Autores: 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
Publicado en: medRxiv, 2022
Editor: medRxiv
DOI: 10.1101/2022.11.21.22282589

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

Autores: 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
Publicado en: medRxiv, 2022
Editor: medRxiv
DOI: 10.1101/2022.06.23.22276698

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

Autores: Robert C. Blanshard, Chongyi Chen, Xiaoliang Sunney Xie, Eva R. Hoffmann
Publicado en: Mitosis and Meiosis Part A, Edición 144, 2018, Página(s) 441-457, ISBN 9780-128141441
Editor: Elsevier
DOI: 10.1016/bs.mcb.2018.03.037

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