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Genetic diseases

Gene-transcription factor regulatory networks implicate primary cilia in the evolution of vertebrate sex determination and expand models of epigenetic regulation

Thea B. Gessler, Dean C. Adams, Nicole Valenzuela

published 29 Jul 2026

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A standardized imaging and analysis workflow for quantitative evaluation of cutaneous neurofibromas in Nf1-KO mice

Laura Fertitta, Fanny Coulpier, Layna Oubrou, Xavier Decrouy, Etienne Audureau, Nicolas Ortonne, Pierre Wolkenstein, Piotr Topilko

published 27 Jul 2026

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Sickle cell disease and maternity care: A qualitative synthesis of women’s and health providers experiences

Kenneth Finlayson, Gill Moncrieff, Cath Harris, Soo Downe

published 13 Jul 2026

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Genetic yield of next-generation sequencing for detecting monogenic familial hypercholesterolemia in uzbek patients with coronary artery disease

Rano B. Alieva, Aleksandr B. Shek, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, Ulugbek I. Nizamov, Dilnora B. Yusupalieva

published 09 Jul 2026

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Barriers and facilitators to healthcare utilization amongst people living with sickle cell disease in the United States: A scoping review

Christina Ruan, Joyce Gyamfi, Nana Osei-Tutu, Shreya Meda, Lydia Samuels, Nousheen Inayat, Sukruthi Thunga, Elizabeth Noble, Dorice L. Viera, Deborah Adenikinju, Charmaine Royal, Angela Odoms-Young, Prince Michael Amegbor, Emmanuel Peprah

published 06 Jul 2026

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Development and validation of a machine learning model to detect psychiatric symptoms in Huntington’s disease using speech analysis

Quang Tuan Rémy Nguyen, Hadrien Titeux, Rachid Riad, Renaud Massart, Graca Morgado, Katia Youssov, Emmanuel Dupoux, Anne-Catherine Bachoud-Lévi

published 01 Jul 2026

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Childhood to Adult Neurodevelopment in Gene-Expanded Huntington’s Disease (ChANGE-HD): A prospective longitudinal neurodevelopmental study of Huntington’s disease

Mohit Neema, Nabil Halabi, Michael V. Freedberg, Peggy C. Nopoulos, the ChANGE-HD investigators, coordinators, and consultants

published 25 Jun 2026

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Predicting elevated transcranial doppler velocity among patients with sickle cell anemia in Uganda: A cross-sectional study

Doreen Nayiga, David Mukunya, Simon Odoch, Faith Oguttu, Ian Munabi, Milton W. Musaba, Charles Kimbugwe, Brian Tonny Makoko, Jonathan Babuya, Joshua Mugabi, Alain Nyalihama, Martin Chebet, Lisa Rynn, Samuel Kizito, Vincent Ssentumbwe, Sarah Kiguli, Peter Olupot Olupot

published 23 Jun 2026

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Diagnostic performance of discriminant formulas and machine learning models for detecting β-thalassemia trait in Bangladesh

Rumana Mahtarin, Kasrina Azad, Rakib Bin Mahbub Talukder, Rynak Rahmat, Suzana Chowdhury Nitu, Arif Mahmud Howlader, Mohabbat Hossain, Mst. Sharmin Aktar Mukta, Mohammad Tanbir Habib, Abu Bakar Siddik, Nishat Sultana, Zannat Kawser, Umme Kulsum, Faisal Zainal Abedin, Nusrat Sultana, Md. Ahashan Habib, A. K. M. Ekramul Hossain, Farjana Akther Noor, Ahmad Zubair Mahdi, Muhammad Asaduzzaman, Emran Kabir Chowdhury, Md Rofiqur Rahman, Firdausi Qadri, Mst. Noorjahan Begum, A. H. M. Nurun Nabi

published 16 Jun 2026

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Echocardiographic characterization and markers of cardiovascular risk in adults with sickle cell disease in a Colombian tertiary referral centre: A cross-sectional study

Martin E. Arrieta-Mendoza, Juan R. Betancourt, Sebastián Ayala-Zapata, Stephany Barbosa-Balaguera, Christian D. Messu-Llanos, Juan P. Rosales-Melo, Darío F. Andrade-Hoyos, Álvaro Herrera-Escandón, Oswaldo E. Aguilar-Molina

published 16 Jun 2026

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Trends in the burden of sickle cell disorders in Sierra Leone, 1990–2023: An analysis of Global Burden of Disease Study 2023 estimates

Monalisa M. J. Faulkner, Fatima Jalloh, Foray Mohamed Foray, Sahr L. Gborie, Mohamed B. Jalloh

published 04 Jun 2026

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School absenteeism among children and adolescents aged 6–19 years with sickle cell disease in Uganda: A comparative cross-sectional study

Juliane Peninah Nattimba, Sabrina Bakeera-Kitaka, Joseph Rujumba, Ruth Namazzi, Ivan Segawa, Kizza Lubega, Alphonse Taban, Edison Mworozi, Phillip Kasirye, Deogratias Munube, Grace Ndeezi, Sarah Kiguli, Thereza Piloya

published 29 May 2026

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Ontogenetic shifts in morphology and ecology of eastern Pacific white sharks revealed by computer vision

Alexandra E. DiGiacomo, Samantha Andrzejaczek, Barbara A. Block

published 20 May 2026

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