1. A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases. Issue 5 (23rd March 2023) Authors: Chatzovoulou, Kalliopi; Mayeur, Anne; Cagnard, Nicolas; Zarhrate, Mohammed; Bole, Christine; Nitschke, Patrick; Jabot-Hanin, Fabienne; Rötig, Agnès; Monnot, Sophie; Munnich, Arnold; Frydman, Nelly; Steffann, Julie Journal: Human reproduction Issue: Volume 38:Issue 5(2023) Page Start: 992 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis. Issue 4 (22nd March 2018) Authors: Parlato, Marianna; Charbit‐Henrion, Fabienne; Pan, Jie; Romano, Claudio; Duclaux‐Loras, Rémi; Le Du, Marie‐Helene; Warner, Neil; Francalanci, Paola; Bruneau, Julie; Bras, Marc; Zarhrate, Mohammed; Bègue, Bernadette; Guegan, Nicolas; Rakotobe, Sabine; Kapel, Nathalie; De Angelis, Paola; Griffiths,... Journal: EMBO molecular medicine Issue: Volume 10:Issue 4(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome. (10th October 2019) Authors: Pelet, Anna; Skopova, Vaclava; Steuerwald, Ulrike; Baresova, Veronika; Zarhrate, Mohammed; Plaza, Jean-Marc; Hnizda, Ales; Krijt, Matyas; Souckova, Olga; Wibrand, Flemming; Andorsdóttir, Guðrið; Joensen, Fróði; Sedlak, David; Bleyer, Anthony J; Kmoch, Stanislav; Lyonnet, Stanislas; Zikanova, Marie Journal: Human molecular genetics Issue: Volume 28:Number 22(2019) Page Start: 3805 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure. Issue 1 (December 2018) Authors: El-Daher, Marie-Therese; Cagnard, Nicolas; Gil, Marine; Cruz, Marie; Leveau, Claire; Sepulveda, Fernando; Zarhrate, Mohammed; Tores, Frédéric; Legoix, Patricia; Baulande, Sylvain; Villartay, Jean; Almouzni, Geneviève; Quivy, Jean-Pierre; Fischer, Alain; de Saint Basile, Geneviève Journal: Cell discovery Issue: Volume 4:Issue 1(2018) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗