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Human genetics

Identification of novel marker-trait associations for agronomic traits in bread wheat under WANA environments through GWAS

Fatima Henkrar, Zakaria El Gataa, Khaoula Lahrichi, Wuletaw Tadesse

published 08 Aug 2025

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Mendelian randomization analysis: The causal relationship between C-reactive protein and amyloidosis and between C-reactive protein and atherosclerosis

Chunhui Liu, Xupeng Huang, Yongsheng Huang, Hongguang Jin

published 08 Aug 2025

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Cerebrospinal fluid haptoglobin levels and outcome after aneurysmal subarachnoid haemorrhage: Evidence from Mendelian randomization

Gbenga A. Kayode, Loukas Zagkos, Godspower Oboli, Sonya Abraham, Gregory Kato, Quazi Ataher, Evangelia Farmakioti, Lothar Tremmel, Stephen Burgess

published 05 Aug 2025

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Hematological analysis of alpha-thalassemia: A single-center, retrospective clinical study

Lin Zheng, Nuolan Yin, Meiying Wang, Hailong Huang, Na Lin, Shuyu Zhang, Linjuan Su, Liangpu Xu

published 04 Aug 2025

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Association of FGF Receptor-2rs2981578 SNP with breast cancer in women at the University of Gondar Comprehensive Specialized Hospital, Ethiopia

Mihiret Bogale, Tiget Ayelgn Mengstie, Ephrem Tadesse, Tadesse Asmamaw Dejenie, Banchamlak Teferi, Melkamu Siferih, Mulualem Nibret Takle, Tseganesh Asefa, Gashaw Dessie, Winta Tesfaye, Endeshaw Asaye Kindie, Hiwot Tezera Endale, Kibur Hunie Tesfa, Birhanu Ayelign, Tewodros Shibabaw

published 01 Aug 2025

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Certain vs. uncertain actionable secondary findings in a cohort of 500 Lebanese participants: What to report to the patient?

Eileen Marie Hanna, Cybel Mehawej, Yazid Hoblos, Kelven Rahy, Andre Megarbane, Eliane Chouery

published 18 Jul 2025

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Rare and novel variant load threshold for KIF7, GJA1 and PDE1C genes elevates the risk of severity of congenital heart defects in Down syndrome

Agnish Ganguly, Samudra Pal, Srilagna Chatterjee, Madhusudan Das, Sumantra Sarkar, Sujay Ghosh

published 26 Jun 2025

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Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients

Rania Abdelmaksoud-Dammak, Nihel Ammous-Boukhris, Amena Saadallah-Kallel, Dorra Ben Ayed-Guerfali, Souhir Guidara, Imen Miladi-Abdennadher, Ikhlas Ben Ayed, Hassen Kamoun, Slim Charfi, Tahya Sellami-Boudawara, Imen Zribi, Foued Frikha, Salah Boujelbene, Raja Mokdad-Gargouri

published 24 Jun 2025

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Genetic markers for knee osteoarthritis presence are not associated with disease progression - data from the IMI-APPROACH cohort

Mieke L. M. Bentvelzen, Paco M.J. Welsing, Philippe Moingeon, Simon C. Mastbergen, Margreet Kloppenburg, Francisco J. Blanco, Ida K. Haugen, Francis Berenbaum, Hae-Won Uh, Mylène P. Jansen, Said el Bouhaddani

published 24 Jun 2025

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Systematic mediation and interaction analyses of kidney function genetic loci in a general population study

Dariush Ghasemi-Semeskandeh, David Emmert, Eva König, Luisa Foco, Martin Gögele, Mohamed S. Sarhan, Laura Barin, Ryosuke Fujii, Christian Fuchsberger, Dorien J. M. Peters, Peter P. Pramstaller, Cristian Pattaro

published 24 Jun 2025

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Multi-locus GWAS analysis identifies genomic regions associated with resistance to ergot (Claviceps africana) in sorghum

Dejene Kebede, Patrick Rubaihayo, Geoffrey Tusiime, Arfang Badji, Thomas Odong, Mildred Ochwo-Ssemakula, Richard Edema, Paul Gibson, Isaac Onziga Dramadri

published 23 Jun 2025

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Genomic profiling in hidradenitis suppurativa: InterOmics pipeline for DNA-RNA sequencing highlights HLA variants, keratin-associated mutations and extracellular matrix alterations as contributing factors to HS pathogenesis

Lucas André Cavalcanti Brandão, Ronald Rodrigues de Moura, Bruno Rodrigo Assunção, Cecilia Del Vecchio, Adamo Pio d’Adamo, Gudrun Ratzinger, Barbara Böckle, Nina Frischhut, Wolfram Jaschke, Matthias Schmuth, Muhammad Suleman, Angelo Valerio Marzano, Chiara Moltrasio, Paola Maura Tricarico, Sergio Crovella

published 20 Jun 2025

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Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam

Siti Nur Idayu Matusin, Nuramalina Mumin, Hazirah Zainal Abidin, Fatin Nurizzati Mohd Jaya, Zen Huat Lu, Mas Rina Wati Haji Abdul Hamid

published 18 Jun 2025

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