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Clinical genetics

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

Rano B. Alieva, Aleksandr B. Shek, [ ... ], Dilnora B. Yusupalieva

A clinical pilot study for personalized risk-based breast cancer screening utilizing a polygenic risk score

Tone Hovda, Siim Sober, [ ... ], Kristine Kleivi Sahlberg

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

Christina Ruan, Joyce Gyamfi, [ ... ], Emmanuel Peprah

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, [ ... ], Anne-Catherine Bachoud-Lévi

Awareness, attitudes, and barriers toward Transthyretin Amyloid Cardiomyopathy in Latin America: A questionnaire-based cross-sectional study

Cecilia Camacho-Hubner, Marcia Waddington-Cruz, [ ... ], Guilherme Silva Julian

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, [ ... ], the ChANGE-HD investigators, coordinators, and consultants

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

Doreen Nayiga, David Mukunya, [ ... ], Peter Olupot Olupot

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

Rumana Mahtarin, Kasrina Azad, [ ... ], A. H. M. Nurun Nabi

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, [ ... ], Oswaldo E. Aguilar-Molina

Cost-effectiveness of pre-emptive pharmacogenetic testing: An umbrella review

Taichi Ochi, Manon G. den Uil, [ ... ], Talitha L. Feenstra

Parental acceptability of newborn screening expansion in the genomic era: A nationwide French survey informed by the Theoretical Framework of Acceptability (SeDeN-p3)

Camille Level, Laurence Faivre, [ ... ], Christine Peyron

Phonological awareness in Urdu language speaking children with down syndrome (DS)

Maimoona Khalil, Nazia Mumtaz, Ghulam Saqulain, Farheen Naz Anis

Gene therapy rescues cone function in an all-cone retina mouse model with the most common cone opsin C203R missense mutation

Marion E. Cahill, Kathryn Chmelik, [ ... ], Wen-Tao Deng

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