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Heterozygosity

Short report: Targeted analysis of whole exome sequencing data in Indian cryptogenic stroke patients

Priya Dev, Jenefer M. Blackwell, Rajiv Kumar, Vijay Mishra, Abhishek Pathak

published 20 Feb 2026

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Identification of single nucleotide polymorphisms in sheep Mx genes: A premature stop codon abolishes Mx2 protein expression but did not affect fertility and early animal development

Cindy Eunhee Lee, Nahideh Moradi, Brad Hine, Nicholas M. Andronicos, Jody McNally, Jian-Wei Liu, Tanja Strive, Ina Smith, Peter W. Hunt, Michael Frese

published 11 Feb 2026

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A SNP-based capture and clustering workflow to assess donor-derived cell-free DNA in transplantation

Shigeki Mitsunaga, Yohei Yamada, Phuong Thanh Nguyen, Naoko Fujito, Hirofumi Nakaoka, Hiromichi Aoyama, Hiroshi Kitamura, Kenichi Saigo, Ituro Inoue, Akihiro Fujino, Masahiro Shinoda, Kazumasa Fukuda, Yuko Kitagawa

published 02 Feb 2026

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HbA1c underperforms in identifying abnormal glucose tolerance in the presence of G6PD deficiency: Insight from the Africans in America study

Amy R. Bentley, Kauthrah Ntabadde, Claudine B. Kabeza, Kenneth Ekoru, Christopher W. DuBose, David B. Sacks, Adebowale A. Adeyemo, Charles N. Rotimi, Anne E. Sumner

published 23 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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Translocated populations are genetically similar to natural populations and populations resulting from natural colonizations

José F. Meléndez-Cal-y-Mayor, Jasmin Winkler, Ramon Müller, Beatrice Lüscher, Janine Bolliger, Arpat Ozgul, Benedikt R. Schmidt

published 08 Jan 2026

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Genetic analysis of LRRK2 variants in Han Chinese patients with Parkinson’s disease

Xinyue Deng, Xue Yan, Zhi Song, Wen Zheng, Hongbo Xu, Yan Yang, Jiangang Wang, Lamei Yuan, Hao Deng

published 08 Jan 2026

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Potential association of certain microRNA gene polymorphisms with recurrent pregnancy loss susceptibility in Saudi women

Aya Rabaa, Afrah Alkuriji, Aishah Kabbi, Samiah Almalki, Zainab Almasawi, Maha Daghestani, Hana Hakami, Jawaher Alzahrani

published 19 Dec 2025

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Landscape associations and population genetics of a generalist carnivore at a range limit

Bailey A. Kleeberg, Robert C. Lonsinger, Jennifer R. Adams, Lisette P. Waits, W. Sue Fairbanks

published 18 Dec 2025

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Adeno-associated vector corneal gene therapy reverses corneal clouding in a feline model of mucopolysaccharidosis VI

Brian C. Gilger, Liujiang Song, Tomoko Hasegawa, Jacklyn H. Salmon, Jacquelyn J. Bower, Naveen Vridhachalam, Elisabeth Collins, Darby Roberts, Jessica Bagel, Caitlyn Molony, Charles Vite, Matthew L. Hirsch

published 05 Dec 2025

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Development and validation of a simple, cost-effective competitive allele-specific PCR assay for largescale screening and detection of Fec^B mutation in sheep

Kathiravan Periasamy, Rudolf Pichler, Saravanan Ramasamy, Rajesh Kumar Somasundaram, Muladno Basar, Atanaska Teneva, Amadou Traore, Arnaud S. R. Tapsoba, Mohammed O. Faruque, Seyed Abbas Rafat, Tanveer Hussain

published 02 Dec 2025

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Downregulation of serum vitamin D receptor level, serum 25-hydroxyvitamin D, and association of vitamin D receptor gene polymorphisms ApaI and TaqI with obesity in the Bangladeshi population

Annur Ferdous, Munira Jahan Raisa, Md Hijbullah, Nafiz Imtiaz Siam, Shatabdy Barua Trisha, Sadia Biswas Mumu, Md Aminul Haque, Javed Ibne Hasan, Muhammed Mahfuzur Rahman, Md Shaki Mostaid

published 20 Nov 2025

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Identification of pathogenic variants for the development of ultra-long axial length in myopic children

YanYing Zhu, XueYan Li, YueXin Chen, HaiYan Xie, YuKun Liu, XiaoChen Xu, Jing Wang

published 19 Nov 2025

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