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Human genetics

Genomic analysis of bovine respiratory disease resistance in preweaned dairy calves diagnosed by a combination of clinical signs and thoracic ultrasonography

Maria G. Strillacci, Vincenzo Ferrulli, Francesca Bernini, Davide Pravettoni, Alessandro Bagnato, Ilaria Martucci, Antonio Boccardo

published 21 Mar 2025

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A Swedish genome-wide haplotype association analysis identifies novel candidate loci associated with endometrial cancer risk

Elin Barnekow, Wen Liu, Emil Andersson, Xuemin Wang, Hafdis T. Helgadottir, Jessada Thutkawkorapin, Serena Barilla, Litika Vermani, Miriam Mints, Emma Tham, Peter A. Fasching, Diether Lambrechts, Frédéric Amant, Amanda B. Spurdle, Per Hall, Tracy A. O’Mara, Sara Margolin, Annika Lindblom

published 18 Mar 2025

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Genetic subtyping by Whole Exome Sequencing across Diffuse Large B Cell Lymphoma and Plasmablastic Lymphoma

Aitana Avendaño Pomares, Laura Rodríguez Merino, Sonia González, Jordi Morata, Raúl Tonda, Patricia Arribas, José Revert, Estrella Carrillo, Carlos Grande, Josep Maria Roncero, Jaime Pérez de Oteyza, Concepción Nicolás, Norma Gutierrez, Pau Abrisqueta, Antonio Gutiérrez, Ángel Ramírez-Páyer, Alejandro Martin Garcia-Sancho, Eva González-Barca, Santiago Montes-Moreno, on behalf of GELTAMO group (Grupo Español de Linfomas y Trasplante Autólogo de Medula Osea), Spain

published 11 Mar 2025

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Genome-wide association analysis of Septoria tritici blotch for adult plant resistance in elite bread wheat (Triticum aestivum L) genotypes

Molla Mekonnen Kassie, Tiegist Dejene Abebe, Ermias Abate Desta, Wuletaw Tadesse

published 10 Mar 2025

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Predictors of clozapine concentration and psychiatric symptoms in patients with schizophrenia

Sang-In Park, Seoyoung Kim, Kwanwoo Park, Uijeong Yu, Yunjeong Jang, Bo-Hyung Kim, Ji Hyun Lee, Euitae Kim

published 06 Mar 2025

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Novel non-synonymous and synonymous gene variants of SRD5A2 in patients with 46,XY-DSD and DSD-free subjects

Luis Ramos

published 05 Mar 2025

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Genome-wide association study of idiopathic epilepsy in the Italian Spinone dog breed

Christopher A. Jenkins, Luisa De Risio, Artitaya Lophatananon, Thomas W. Lewis, Donna Foster, Jim Johnson, Hannes Lohi, Cathryn S. Mellersh, Sally L. Ricketts

published 05 Mar 2025

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Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing

Andrea Hadjipanteli, Athina Theodosiou, Ioannis Papaevripidou, Angelos Alexandrou, Nicole Salameh, Paola Evangelidou, Marios Tomazou, Andreas Mavrides, Sozos Fasouliotis, George Anastasiou, Andreas Stavroulis, Niki Agathokleous, Maria Agathokleous, Stelios Tsangarides, Ioannis Kallikas, Kyriakos Kakoullis, Sofia Frakala, Christina Oxinou, Andreas Marnerides, Emilia Athanasiou, Sofia Ourani, Violetta C. Anastasiadou, George Tanteles, Ludmila Kousoulidou, Carolina Sismani

published 25 Feb 2025

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A life course study of genetic and environmental influences on sustainable working life

Annina Ropponen, Jacob Bergström, Jurgita Narusyte, Pia Svedberg

published 25 Feb 2025

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Identification of novel proteins associated with intelligence by integrating genome-wide association data and human brain proteomics

Zheng Zhang, Yousong Zhu, Junlong Zhang, Wenbin He, Cheng Han

published 21 Feb 2025

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Fundus autofluorescence features specific for EYS-associated retinitis pigmentosa

Taro Kominami, Tien-En Tan, Hiroaki Ushida, Kanika Jain, Kensuke Goto, Yasmin M. Bylstra, Ai Fujita Sajiki, Ranjana S. Mathur, Junya Ota, Weng Khong Lim, Koji M Nishiguchi, Beau J. Fenner

published 19 Feb 2025

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The importance of genetic counselling and testing in inherited eye diseases: A population-based retrospective study

Michal Kaminer Abargel, Michal Macarov, Karen Hendler, Claudia Yahalom

published 13 Feb 2025

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Mendelian randomization analysis to identify potential drug targets for osteoarthritis

Chengyang Lu, Yanan Xu, Shuai Chen, Li Guo, Pengcui Li, Xiaochun Wei, Xueqin Rong

published 11 Feb 2025

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