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  1. Platzer, Konrad; Cogné, Benjamin; Hague, Jennifer; Marcelis, Carlo L.; Mitter, Diana; Oberndorff, Katrin; Park, Soo‐Mi; Ploos van Amstel, Hans K.; Simonic, Ingrid; van der Smagt, Jasper J.; Stegmann, Alexander P.A.; Stevens, Servi J.C.; Stumpel, Constance T.R.M.; Vincent, Marie; Lemke, Johannes R.; Jamra, Rami

    Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development

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    Wiley, 2018

    Published in: Annals of Neurology

  2. Boice, Michael; Salloum, Darin; Mourcin, Frederic; Sanghvi, Viraj; Amin, Rada; Oricchio, Elisa; Jiang, Man; Mottok, Anja; Denis-Lagache, Nicolas; Ciriello, Giovanni; Tam, Wayne; Teruya-Feldstein, Julie; de Stanchina, Elisa; Chan, Wing C.; Malek, Sami N.; Ennishi, Daisuke; Brentjens, Renier J.; Gascoyne, Randy D.; Cogné, Michel; Tarte, Karin; Wendel, Hans-Guido

    Loss of the HVEM Tumor Suppressor in Lymphoma and Restoration by Modified CAR-T Cells

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    Elsevier BV, 2016

    Published in: Cell

  3. Broly, Martin; Polevoda, Bogdan V.; Awayda, Kamel M.; Tong, Ning; Lentini, Jenna; Besnard, Thomas; Deb, Wallid; O’Rourke, Declan; Baptista, Julia; Ellard, Sian; Almannai, Mohammed; Hashem, Mais; Abdulwahab, Ferdous; Shamseldin, Hanan; Al-Tala, Saeed; Alkuraya, Fowzan S.; Leon, Alberta; van Loon, Rosa L.E.; Ferlini, Alessandra; Sanchini, Mariabeatrice; Bigoni, Stefania; Ciorba, Andrea; van Bokhoven, Hans; Iqbal, Zafar; [...]

    THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

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    Elsevier BV, 2022

    Published in: The American Journal of Human Genetics

  4. Lessel, Davor; Schob, Claudia; Küry, Sébastien; Reijnders, Margot R.F.; Harel, Tamar; Eldomery, Mohammad K.; Coban-Akdemir, Zeynep; Denecke, Jonas; Edvardson, Shimon; Colin, Estelle; Stegmann, Alexander P.A.; Gerkes, Erica H.; Tessarech, Marine; Bonneau, Dominique; Barth, Magalie; Besnard, Thomas; Cogné, Benjamin; Revah-Politi, Anya; Strom, Tim M.; Rosenfeld, Jill A.; Yang, Yaping; Posey, Jennifer E.; Immken, LaDonna; Oundjian, Nelly; [...]

    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

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    Elsevier BV, 2018

    Published in: The American Journal of Human Genetics

  5. Lessel, Davor; Schob, Claudia; Küry, Sébastien; Reijnders, Margot R.F.; Harel, Tamar; Eldomery, Mohammad K.; Coban-Akdemir, Zeynep; Denecke, Jonas; Edvardson, Shimon; Colin, Estelle; Stegmann, Alexander P.A.; Gerkes, Erica H.; Tessarech, Marine; Bonneau, Dominique; Barth, Magalie; Besnard, Thomas; Cogné, Benjamin; Revah-Politi, Anya; Strom, Tim M.; Rosenfeld, Jill A.; Yang, Yaping; Posey, Jennifer E.; Immken, LaDonna; Oundjian, Nelly; [...]

    De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder

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    Elsevier BV, 2017

    Published in: The American Journal of Human Genetics

  6. Stephenson, Sarah E.M.; Costain, Gregory; Blok, Laura E.R.; Silk, Michael A.; Nguyen, Thanh Binh; Dong, Xiaomin; Alhuzaimi, Dana E.; Dowling, James J.; Walker, Susan; Amburgey, Kimberly; Hayeems, Robin Z.; Rodan, Lance H.; Schwartz, Marc A.; Picker, Jonathan; Lynch, Sally A.; Gupta, Aditi; Rasmussen, Kristen J.; Schimmenti, Lisa A.; Klee, Eric W.; Niu, Zhiyv; Agre, Katherine E.; Chilton, Ilana; Chung, Wendy K.; Revah-Politi, Anya; [...]

    Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

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    Elsevier BV, 2022

    Published in: The American Journal of Human Genetics

  7. Jacob, Louis; Cogné, Mélanie; Tenovuo, Olli; Røe, Cecilie; Andelic, Nada; Majdan, Marek; Ranta, Jukka; Ylen, Peter; Dawes, Helen; Azouvi, Philippe; Åkerlund, Cecilia; Amrein, Krisztina; Andreassen, Lasse; Anke, Audny; Antoni, Anna; Audibert, Gérard; Azzolini, Maria Luisa; Bartels, Ronald; Barzó9, Pál; Beauvais, Romuald; Beer, Ronny; Bellander, Bo-Michael; Belli, Antonio; Benali, Habib; [...]

    Predictors of Access to Rehabilitation in the Year Following Traumatic Brain Injury: A European Prospective and Multicenter Study

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    SAGE Publications, 2020

    Published in: Neurorehabilitation and Neural Repair

  8. Melander, A.; Olsson, J.; Lindberg, G.; Salzman, A.; Howard, T.; Stang, P.; Lydick, E.; Emslie-Smith, A.; Boyle, D. I. R.; Evans, J. M. M.; Macdonald, T. M.; Bain, J.; Sullivan, F.; Juhl, C.; Pørksen, N.; Sturis, J.; Hollingdal, M.; Pincus, S.; Veldhuis, J.; Dejgaard, A.; Schmitz, O.; Kristensen, J. S.; Frandsen, K. B.; Bayer, Th.; [...]

    35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September–2 October 1999 : Brussels, Belgium, 28 September–2 October 1999

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    Springer Science and Business Media LLC, 1999

    Published in: Diabetologia