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Genetic diseases

Investigating the effects of cannabinoids for the reduction of inflammation and sickle cell disease pain (CRISP); A protocol for a randomized double-blind placebo-controlled study

Jordan Bellis, Lydia Monk, Ritika Jhawar, Galia Pollock, Angela Liu, Charleen Jacobs-McFarlane, Brittany McCrary, Jeffrey Glassberg, Susanna Curtis

published 28 Jan 2026

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Explainable AI framework for improved Thalassemia mental health classification and feature selection

Shahriar Siddique Ayon, Abdullah Al Mamun, Md. Ebrahim Hossain, Wasan Alamro, Yazan M. Allawi, Nuzhat Noor Islam Prova, Md. Saef Ullah Miah, Salman Md Sultan, Ahmad Abadleh

published 23 Jan 2026

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Optimizing expanded carrier screening for China: Multi-center study establishes 202-gene panel with optimal cost-effectiveness in preconception and prenatal care

Yulu Yang, Yuting Hang, WeiSheng Cheng, Yunxia Cao, Zhaolian Wei, Jing Yuan

published 22 Jan 2026

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Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas

Hua Li, Alexander Pemov, Robert Allaway, David F. Muir, Lung-Ji Chang, Jineta Banerjee, Alexandra J. Scott, Jaime M.W. Nagy, Jian Liu, Meritxell Carrió, Helena Mazuelas, Anthony Yachnis, Sang Y. Lee, Xiaochun Zhang, Yang Lyu, Douglas R. Stewart, Angela Hirbe, Jaishri O. Blakeley, Eduard Serra, Deeann Wallis, Margaret R. Wallace

published 21 Jan 2026

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Blood-brain barrier integrity and prevalence of intrathecal T helper 17.1 cells in Huntington´s disease

Birna Ásbjörnsdóttir, Christian Sandøe Musaeus, Marie N. N. Hellem, Tua Vinther-Jensen, Patrick Ejlerskov, Esben Budtz-Jørgensen, Filippa Liliendahl Qvist, Anja Hviid Simonsen, Lena Elisabeth Hjermind, Niels Henning Skotte, Marina Rode von Essen, Finn Sellebjerg, Jørgen Erik Nielsen

published 12 Jan 2026

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A qualitative exploration of the experience of individual-level stigma among adolescents with a chronic illness

Joan A. Thomas, Garth Lipps

published 18 Dec 2025

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Exercise as a therapy for sickle cell-associated musculoskeletal pain among children: Healthcare professionals’ perspectives

Britney Pinamang Gyampo, Isaac Mensah Bonsu

published 12 Dec 2025

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Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1): Protocol of an international natural history study

Karlien Mul, Kate Eichinger, Man Hung, Valeria A. Sansone, Cynthia Gagnon, Sub Subramony, Richard H. Roxburgh, Johanna Hamel, Jeffrey M. Statland, Bakri Elsheikh, Chris Turner, Jacinda Sampson, Thomas Ragole, Emma Matthews, Benedikt Schoser, Andrea Swenson, Chamindra Laverty, Perry Shieh, Ericka P. Greene, Masanori Takahashi, Matthew Wicklund, Jeanne Dekdebrun, Jennifer Raymond, Erin DeSpain, Charles A. Thornton, Nicholas E. Johnson, Myotonic Dystrophy Clinical Research Network

published 11 Dec 2025

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Bone Health Index (BoneXpert) and parameters of peripheral quantitative computed tomography indicate overall adequate bone health in adolescents with chronic endocrine diseases at time of transition

Sebastian Gippert, Markus Bettendorf, Johannes Hoos, Daniela Choukair

published 04 Dec 2025

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Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study

Han-Ying Chen, Yi-Ting Wang, Jessica Kang, Yi-Yun Tai, Ti-Jia Yuan, Shin-Yu Lin, Shi-Ming Lin, Chien-Nan Lee, Tsang-Ming Ko

published 02 Dec 2025

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Burden of sickle cell anemia in Africa: A systematic review and meta-analysis

Bwambale Jonani, Emmanuel Charles Kasule, Bwire Roman Herman, Joel Fredrick Arturo, Mwesigwa Calvin Mugambwa, Ssebulime Stephen, John Bosco Mundaka, Richard Kwizera, Gerald Mboowa, Felix Bongomin

published 25 Nov 2025

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Silent struggles: Assessing physical and psychosocial burdens among caregivers of children with sickle cell disease in western Sudan–A cross-sectional study

Weaam Abdallah, Wisal Abbas, Swsan A. M. Elsharif, Maaza Hamid Ahmed Ibrahim, Walaa Abdalla, Fadwa Saad

published 25 Nov 2025

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Early risk factors for acute chest syndrome in sickle cell anemia: A pediatric study

Mohamed Condé, Florie Bouvier, Roselyne Brat, Salim Ferrani, Régis Hankard, Philippe Connes, Georges Dimitrov

published 14 Nov 2025

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