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  1. 21
    Sideroflexin family genes were dysregulated and associated with tumor progression in prostate cancers

    Sideroflexin family genes were dysregulated and associated with tumor progression in prostate cancers by Hua Huang, Huibo Lian, Wang Liu, Benyi Li, Runzhi Zhu, Haiyan Shao

    Published 2025-02-01
    “…Human Genomics…”
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  2. 22
    Shared genetics between breast cancer and predisposing diseases identifies novel breast cancer treatment candidates

    Shared genetics between breast cancer and predisposing diseases identifies novel breast cancer treatment candidates by Panagiotis N. Lalagkas, Rachel D. Melamed

    Published 2024-11-01
    “…Human Genomics…”
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  3. 23
    Liver macrophage-derived exosomal miRNA-342-3p promotes liver fibrosis by inhibiting HPCAL1 in stellate cells

    Liver macrophage-derived exosomal miRNA-342-3p promotes liver fibrosis by inhibiting HPCAL1 in stellate cells by Wenshuai Li, Lirong Chen, Qi Zhou, Tiansheng Huang, Wanwei Zheng, Feifei Luo, Zhong Guang Luo, Jun Zhang, Jie Liu

    Published 2025-02-01
    “…Human Genomics…”
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  4. 24
    The interplay of sex and genotype in disease associations: a comprehensive network analysis in the UK Biobank

    The interplay of sex and genotype in disease associations: a comprehensive network analysis in the UK Biobank by Vivek Sriram, Jakob Woerner, Yong-Yeol Ahn, Dokyoon Kim

    Published 2025-01-01
    “…Human Genomics…”
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  5. 25
    High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands

    High clinical utility of long-read sequencing for precise diagnosis of congenital adrenal hyperplasia in 322 probands by Yunpeng Wang, Gaohui Zhu, Danhua Li, Yu Pan, Rong Li, Ting Zhou, Aiping Mao, Libao Chen, Jing Zhu, Min Zhu

    Published 2025-01-01
    “…Human Genomics…”
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  6. 26
    Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in Greece

    Systematic analysis of the pharmacogenomics landscape towards clinical implementation of precision therapeutics in Greece by George P. Patrinos, Kariofyllis Karamperis, Margarita-Ioanna Koufaki, Maria Skokou, Zoe Kordou, Eirini Sparaki, Margarita Skaraki, Christina Mitropoulou

    Published 2025-02-01
    “…Human Genomics…”
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  7. 27
    Correction: Shared genetics between breast cancer and predisposing diseases identifies novel breast cancer treatment candidates

    Correction: Shared genetics between breast cancer and predisposing diseases identifies novel breast cancer treatment candidates by Panagiotis N. Lalagkas, Rachel D. Melamed

    Published 2025-01-01
    “…Human Genomics…”
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  8. 28
    Genetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2

    Genetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2 by Patrizia Malaspina, Carla Jodice, Bianca Maria Ciminelli, Michela Biancolella, Vito Luigi Colona, Andrea Latini, Francesca Leonardis, Paola Rogliani, Antonio Novelli, Giuseppe Novelli, Andrea Novelletto

    Published 2025-01-01
    “…Human Genomics…”
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  9. 29
    The GeoTox Package: open-source software for connecting spatiotemporal exposure to individual and population-level risk

    The GeoTox Package: open-source software for connecting spatiotemporal exposure to individual and population-level risk by Kyle P. Messier, David M. Reif, Skylar W. Marvel

    Published 2025-01-01
    “…Human Genomics…”
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  10. 30
    Multi-omics approaches for understanding gene-environment interactions in noncommunicable diseases: techniques, translation, and equity issues

    Multi-omics approaches for understanding gene-environment interactions in noncommunicable diseases: techniques, translation, and equity issues by Robel Alemu, Nigussie T. Sharew, Yodit Y. Arsano, Muktar Ahmed, Fasil Tekola-Ayele, Tesfaye B. Mersha, Azmeraw T. Amare

    Published 2025-01-01
    “…Human Genomics…”
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  11. 31
    Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

    Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability by Hiroki Tanabe, Masami Ijiri, Kenji Takahashi, Honoka Sasagawa, Tomomi Kamanaka, Shohei Kuroda, Hiroki Sato, Takeo Sarashina, Yusuke Mizukami, Yoshio Makita, Toshikatsu Okumura

    Published 2024-03-01
    “…Human Genome Variation…”
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  12. 32
    Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study

    Genotypes and phenotypes of neurofibromatosis type 1 patients in Japan: A Hereditary Tumor Cohort Study by Mashu Futagawa, Tetsuya Okazaki, Eiji Nakata, Chika Fukano, Risa Osumi, Fumino Kato, Yusaku Urakawa, Hideki Yamamoto, Toshifumi Ozaki, Akira Hirasawa

    Published 2024-11-01
    “…Human Genome Variation…”
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  13. 33
    NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas

    NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas by Erina Tonouchi, Kei-ichi Morita, Yosuke Harazono, Kyoko Hoshino, Tetsuya Yoda

    Published 2024-05-01
    “…Human Genome Variation…”
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  14. 34
    BARD1 deletion in a patient with suspected hereditary colorectal cancer

    BARD1 deletion in a patient with suspected hereditary colorectal cancer by Nobue Takaiso, Issei Imoto, Akiyo Yoshimura, Akira Ouchi, Koji Komori, Hiroji Iwata, Yasuhiro Shimizu

    Published 2024-03-01
    “…Human Genome Variation…”
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  15. 35
    Investigating mobile element variations by statistical genetics

    Investigating mobile element variations by statistical genetics by Shohei Kojima

    Published 2024-05-01
    “…Human Genome Variation…”
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  16. 36
    A recurrent synonymous L1CAM variant in a fetus with hydrocephalus

    A recurrent synonymous L1CAM variant in a fetus with hydrocephalus by Ivan Šubrt, Tomáš Zavoral, Lukáš Strych, Monika Černá, Markéta Hejnalová, Pavla Komrsková, Jitka Tejcová

    Published 2024-01-01
    “…Human Genome Variation…”
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  17. 37
    Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data

    Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data by Shunichi Kosugi, Chikashi Terao

    Published 2024-04-01
    “…Human Genome Variation…”
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  18. 38
    Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants

    Ventriculosubgaleal shunt placement for hydrocephalus in osteogenesis imperfecta with novel compound heterozygous CRTAP variants by Shintaro Nakamura, Kyosuke Ibi, Hiroyuki Tanaka, Hirokazu Takami, Keita Okada, Nao Takasugi, Motohiro Kato, Naoto Takahashi, Takanobu Inoue

    Published 2024-03-01
    “…Human Genome Variation…”
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  19. 39
    A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency

    A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency by Naoko Nakatani, Akihiro Tamura, Hiroaki Hanafusa, Nanako Nino, Nobuyuki Yamamoto, Hiroyuki Awano, Yasuhiro Tanaka, Naoya Morisada, Suguru Uemura, Atsuro Saito, Daiichiro Hasegawa, Kandai Nozu, Yoshiyuki Kosaka

    Published 2024-03-01
    “…Human Genome Variation…”
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  20. 40
    Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system

    Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system by Sílvia Pires, Paula Jorge, Thomas Liehr, Natália Oliva-Teles

    Published 2024-10-01
    “…Human Genome Variation…”
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