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MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denommé-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gérard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Héron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G, Lecoquierre F. Coursimault J, et al. Among authors: stewart s. Hum Genet. 2022 Jan;141(1):65-80. doi: 10.1007/s00439-021-02383-z. Epub 2021 Nov 8. Hum Genet. 2022. PMID: 34748075 Free article.
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Tolchin D, Yeager JP, Prasad P, Dorrani N, Russi AS, Martinez-Agosto JA, Haseeb A, Angelozzi M, Santen GWE, Ruivenkamp C, Mercimek-Andrews S, Depienne C, Kuechler A, Mikat B, Ludecke HJ, Bilan F, Le Guyader G, Gilbert-Dussardier B, Keren B, Heide S, Haye D, Van Esch H, Keldermans L, Ortiz D, Lancaster E, Krantz ID, Krock BL, Pechter KB, Arkader A, Medne L, DeChene ET, Calpena E, Melistaccio G, Wilkie AOM, Suri M, Foulds N; Genomics England Research Consortium; Begtrup A, Henderson LB, Forster C, Reed P, McDonald MT, McConkie-Rosell A, Thevenon J, Le Tanno P, Coutton C, Tsai ACH, Stewart S, Maver A, Gorazd R, Pichon O, Nizon M, Cogné B, Isidor B, Martin-Coignard D, Stoeva R, Lefebvre V, Le Caignec C. Tolchin D, et al. Among authors: stewart s. Am J Hum Genet. 2020 Jun 4;106(6):830-845. doi: 10.1016/j.ajhg.2020.04.015. Epub 2020 May 21. Am J Hum Genet. 2020. PMID: 32442410 Free PMC article.
Early trajectories of virological and immunological biomarkers and clinical outcomes in patients admitted to hospital for COVID-19: an international, prospective cohort study.
Jensen TO, Murray TA, Grandits GA, Jain MK, Grund B, Shaw-Saliba K, Matthay MA, Abassi M, Ardelt M, Baker JV, Chen P, Dewar RL, Goodman AL, Hatlen TJ, Highbarger HC, Holodniy M, Lallemand P, Laverdure S, Leshnower BG, Looney D, Moschopoulos CD, Mugerwa H, Murray DD, Mylonakis E, Nagy-Agren S, Rehman MT, Rupert A, Stevens R, Turville S, Weintrob A, Wick K, Lundgren J, Ko ER; ACTIV-3/TICO Study Group. Jensen TO, et al. Lancet Microbe. 2024 May 27:S2666-5247(24)00015-6. doi: 10.1016/S2666-5247(24)00015-6. Online ahead of print. Lancet Microbe. 2024. PMID: 38815595 Free article.
Cancer Surveillance in Solid Organ Transplant Recipients With a Pretransplant History of Malignancy: Multidisciplinary Collaborative Expert Opinion.
Watt KD, Rolak S, Foley DP, Plichta JK, Pruthi S, Farr D, Zwald FO, Carvajal RD, Dudek AZ, Sanger CB, Rocco R, Chang GJ, Dizon DS, Langstraat CL, Teoh D, Agarwal PK, Al-Qaoud T, Eggener S, Kennedy CC, D'Cunha J, Mohindra NA, Stewart S, Habermann TH, Schuster S, Lunning M, Shah NN, Gertz MA, Mehta J, Suvannasankha A, Verna E, Farr M, Blosser CD, Hammel L, Al-Adra DP. Watt KD, et al. Among authors: stewart s. Transplantation. 2024 May 21. doi: 10.1097/TP.0000000000005056. Online ahead of print. Transplantation. 2024. PMID: 38771067
3,568 results