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2023

International refereed journal articles

71 - 

Integrating biological HLA-DPB1 mismatch models to predict survival after unrelated hematopoietic cell transplantation

Annalisa Ruggeri, Liesbeth C de Wreede, Carlheinz R Müller, Pietro Crivello, Edouard F Bonneville, Effie W Petersdorf, Gérard Socié, Valérie Dubois, Riitta Niittyvuopio, Juha Peräsaari, Ibrahim Yakoub‐agha, Jan J Cornelissen, Lotte Wieten, Tobias Gedde-Dahl, Edouard Forcade et al.

Haematologica, 2023, 108 (2), pp.645-652.

DOI : https://doi.org/10.3324/haematol.2021.280055

Pubmed : 35546480

 

72 - 

Pacpaint: a histology-based deep learning model uncovers the extensive intratumor molecular heterogeneity of pancreatic adenocarcinoma

Charlie Saillard, Flore Delecourt, Benoit Schmauch, Olivier Moindrot, Magali Svrcek, Armelle Bardier-Dupas, Jean Francois Emile, Mira Ayadi, Vinciane Rebours, Louis de Mestier, Pascal Hammel, Cindy Neuzillet, Jean Baptiste Bachet, Juan Iovanna, Nelson Dusetti et al.

Nature Communications, 2023, 14 (1), pp.3459.

DOI : https://doi.org/10.1038/s41467-023-39026-y

Pubmed : 37311751

 

73 - 

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.

Cosima Schmid, Anne Gregor, Gregory Costain, Chantal Morel, Lauren Massingham, Jennifer Schwab, Chloé Quélin, Marie Faoucher, Julie Kaplan, Rebecca Procopio, Carol Saunders, Ana Cohen, Gabrielle Lemire, Stephanie Sacharow, Anne O'Donnell-Luria et al.

LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genetics in Medicine, 2023, 25 (7), pp.100839.

DOI : https://doi.org/10.1016/j.gim.2023.100839

Pubmed : 37057675

 

74 - 

Polo-like kinase 1 promotes Cdc42-induced actin polymerization for asymmetric division in oocytes

Wai Shan Yuen, Qing Hua Zhang, Anne Bourdais, Deepak Adhikari, Guillaume Halet, John Carroll

Open Biology, 2023, 13 (3),

DOI : https://doi.org/10.1098/rsob.220326

Pubmed : 36883283

 

75 - 

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Sarah Sheppard, Laura Bryant, Rochelle Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia Watson, Victor Faundes, Yannis Duffourd, Pearl Lee, M. Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez et al.

Science Advances , 2023, 9 (10), pp.eade1463.

DOI : https://doi.org/10.1126/sciadv.ade1463

Pubmed : 36897941

 

76 - 

Prognostic value and oncogenic landscape of TP53 alterations in adult and pediatric T-ALL

Mathieu Simonin, Guillaume Andrieu, Rudy Birsen, Marie Balsat, Guillaume Hypolite, Lucien Courtois, Carlos Graux, Nathalie Grardel, Jean-Michel Cayuela, Françoise Huguet, Yves Chalandon, Yannick Le Bris, Elizabeth Macintyre, Virginie Gandemer, Arnaud Petit et al.

Blood, 2023, 141 (11), pp.1353-1358.

DOI : https://doi.org/10.1182/blood.2022017755

Pubmed : 36599110

 

77 - 

HPF1-dependent histone ADP-ribosylation triggers chromatin relaxation to promote the recruitment of repair factors at sites of DNA damage

Rebecca Smith, Siham Zentout, Magdalena Rother, Nicolas Bigot, Catherine Chapuis, Alexandra Mihuț, Florian Franz Zobel, Ivan Ahel, Haico van Attikum, Gyula Timinszky, Sébastien Huet

Nature Structural and Molecular Biology, 2023, 30 (5), pp.678-691.

DOI : https://doi.org/10.1038/s41594-023-00977-x

Pubmed : 37106138

 

78 - 

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

Al Soilly, C Robert-Viard, C Besse, Al Bruel, B Gerard, A Boland, A Piton, Y Duffourd, J Muller, C Poë, T Jouan, S El Doueiri, L Faivre, D Bacq-Daian, B Isidor et al.

BMC Health Services Research, 2023, 23 (1), pp.386.

DOI : https://doi.org/10.1186/s12913-023-09373-z

Pubmed : 37085862

 

79 - 

Mayer-Rokitansky-Küster-Hauser syndrome patients' interest, expectations and demands concerning uterus transplantation

C. Sousa, I. Carton, Sylvie Jaillard, A. Cospain, Alinoë Lavillaureix, K Nyangoh Timoh, M. Juricic, Vincent Lavoué, L. Dion

Journal of Gynecology Obstetrics and Human Reproduction, 2023, 52 (10), pp.102674-102674.

DOI : https://doi.org/10.1016/j.jogoh.2023.102674

Pubmed : 37805077

 

80 - 

UPF1-From mRNA Degradation to Human Disorders

Jacek Staszewski, Natalia Lazarewicz, Julia Konczak, Iwona Migdal, Ewa Maciaszczyk-Dziubinska

Cells, 2023, 12 (3),

DOI : https://doi.org/10.3390/cells12030419

Pubmed : 36766761