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Page 1
Newborn Screening by Genomic Sequencing: Opportunities and Challenges.
Bick D, Ahmed A, Deen D, Ferlini A, Garnier N, Kasperaviciute D, Leblond M, Pichini A, Rendon A, Satija A, Tuff-Lacey A, Scott RH. Bick D, et al. Among authors: garnier n. Int J Neonatal Screen. 2022 Jul 15;8(3):40. doi: 10.3390/ijns8030040. Int J Neonatal Screen. 2022. PMID: 35892470 Free PMC article.
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
Garnier N, Berghout J, Zygmunt A, Singh D, Huang KA, Kantz W, Blankart CR, Gillner S, Zhao J, Roettger R, Saier C, Kirschner J, Schenk J, Atkins L, Ryan N, Zarakowska K, Zschüntzsch J, Zuccolo M, Müllenborn M, Man YS, Goodman L, Trad M, Chalandon AS, Sansen S, Martinez-Fresno M, Badger S, Walther van Olden R, Rothmann R, Lehner P, Tschohl C, Baillon L, Gumus G, Gross E, Stefanov R, Iskrov G, Raycheva R, Kostadinov K, Mitova E, Einhorn M, Einhorn Y, Schepers J, Hübner M, Alves F, Iskandar R, Mayer R, Renieri A, Piperkova A, Gut I, Beltran S, Matthiesen ME, Poetz M, Hansson M, Trollmann R, Agolini E, Ottombrino S, Novelli A, Bertini E, Selvatici R, Farnè M, Fortunato F, Ferlini A. Garnier N, et al. PLoS One. 2023 Nov 22;18(11):e0293503. doi: 10.1371/journal.pone.0293503. eCollection 2023. PLoS One. 2023. PMID: 37992053 Free PMC article.
Patient preferences in genetic newborn screening for rare diseases: study protocol.
Martin S, Angolini E, Audi J, Bertini DE, Bruno LP, Coulter J, Ferlini A, Fortunato F, Frankova V, Garnier N, Grauman Å, Gross E, Hauber B, Hansson M, Kirschner J, Knieling F, Kyosovksa G, Ottombrino S, Novelli A, Raming R, Sansen S, Saier C, Veldwijk J. Martin S, et al. Among authors: garnier n. BMJ Open. 2024 Apr 19;14(4):e081835. doi: 10.1136/bmjopen-2023-081835. BMJ Open. 2024. PMID: 38643010 Free PMC article.
Pediatric refractory chronic immune thrombocytopenia: Identification, patients' characteristics, and outcome.
Pincez T, Fernandes H, Fahd M, Pasquet M, Chahla WA, Granel J, Ducassou S, Thomas C, Garnier N, Jeziorski E, Bayart S, Chastagner P, Cheikh N, Guitton C, Paillard C, Lejeune J, Millot F, Li-Thiao Te V, Mallebranche C, Pellier I, Castelle M, Armari-Alla C, Carausu L, Piguet C, Benadiba J, Pluchart C, Stephan JL, Deparis M, Briandet C, Doré E, Marie-Cardine A, Barlogis V, Leverger G, Héritier S, Aladjidi N, Leblanc T. Pincez T, et al. Among authors: garnier n. Am J Hematol. 2024 Apr 23. doi: 10.1002/ajh.27337. Online ahead of print. Am J Hematol. 2024. PMID: 38651646
Mutational and transcriptional landscape of pediatric B-cell precursor lymphoblastic lymphoma.
Kroeze E, Iaccarino I, Kleisman MM, Mondal M, Beder T, Khouja M, Höppner MP, Scheijde-Vermeulen MA, Kester LA, Brüggemann M, Baldus CD, Cario G, Bladergroen RS, Garnier N, Attarbaschi A, Verdu-Amorós J, Sutton R, Macintyre EA, Scholten K, Arias Padilla L, Burkhardt B, Beishuizen A, den Boer ML, Kuiper RP, Loeffen JLC, Boer JM, Klapper W. Kroeze E, et al. Among authors: garnier n. Blood. 2024 Apr 8:blood.2024023938. doi: 10.1182/blood.2024023938. Online ahead of print. Blood. 2024. PMID: 38588489
Red blood cell senescence and vascular function in patients with hereditary spherocytosis with and without splenectomy.
Casabianca M, Gauthier A, Nader E, Cannas G, Martin F, Martin M, Carin R, Boisson C, Guillot N, Merazga S, Renoux C, Bertrand Y, Garnier N, Hot A, Muniansi I, Halfon-Domenech C, Poutrel S, Joly P, Connes P. Casabianca M, et al. Among authors: garnier n. Br J Haematol. 2024 Apr 2. doi: 10.1111/bjh.19444. Online ahead of print. Br J Haematol. 2024. PMID: 38563320 No abstract available.
Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.
Bianchi C, Margot H, Fernandes H, Pasquet M, Priqueler L, Roy-Peaud F, Bauduer F, Bayart S, Garnier N, Fain O, Van Gils J, Joly SB, Rialland F, Paillard C, Deparis M, Lambilliotte A, Leblanc T, Fahd M, Leverger G, Héritier S, Geneviève D, Rieux-Laucat F, Picard C, Neyraud C, Aladjidi N. Bianchi C, et al. Among authors: garnier n. Br J Haematol. 2024 Mar 3. doi: 10.1111/bjh.19387. Online ahead of print. Br J Haematol. 2024. PMID: 38432067
148 results