Identification of a pathogenic SDHD mutation in a Chinese family with hereditary head and neck paraganglioma: implications for genetic counseling and management by Pu Wang, Liming Gao, Wenyang Zhang, Rui Guo, Yin Xia

Subjects: “…SDHD mutation…”
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MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant by In-Pyo Baek, Yong-Bok Jeong, Seung-Hyun Jung, Yeun-Jun Chung

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Opposition-based particle swarm optimization with adaptive elite mutation and nonlinear inertia weight by Wen-yong DONG, Lan-lan KANG, Yu-hang LIU, Kang-shun LI

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Exploring the impact of the stargazin V143L mutation on the dynamics of the AMPA receptor: stargazin complex by Raquel P. Gouveia, Raquel P. Gouveia, Carlos A. V. Barreto, Carlos A. V. Barreto, Rita Melo, Ana Luísa Carvalho, Ana Luísa Carvalho, Irina S. Moreira, Irina S. Moreira

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Access to Diagnostics and Treatment for People With Metastatic EGFR-Positive NSCLC: Lessons From Project PRIORITY by Jill Feldman, MA, Ivy Elkins, MBA, Zofia Piotrowska, MD, Bellinda L. King-Kallimanis, PhD, Tendai Chihuri, MD, Carly Johnson, BS, Alecia Clary, PhD, Teri Kennedy, MA, Upal Basu Roy, PhD, MPH

Subjects: “…EGFR mutation…”
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TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report by Ge Yu, Guijie Xin, Xu Liu, Wanyu Li, Chen Shao, Runping Gao

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Dysfunction of ATP7B Splicing Variant Caused by Enhanced Interaction With COMMD1 in Wilson DiseaseSummary by Donghu Zhou, Huaduan Zi, Xiaoxi Yang, Xiaojin Li, Yanmeng Li, Anjian Xu, Bei Zhang, Wei Zhang, Xiaojuan Ou, Jidong Jia, Jian Huang, Hong You

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Applications of MR Finger printing derived T1 and T2 values in Adult brain: A Systematic review [version 1; peer review: 2 approved] by Rajagopal Kadavigere, Obhuli Chandran M, Kaushik Nayak, Abhijith S, Saikiran Pendem, Varsha Raghu, Shailesh Nayak S, Riyan Mohamed Sajer, Tancia Pires, Priyanka -

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Hematopoietic stem cell transplantation for purine nucleoside phosphorylase deficiency with two novel mutations: a case report and review of literature by Minyuan Liu, Qi Ji, Senlin Zhang, Jing Qian, Bohan Li, Jie Li, Peifang Xiao, Shaoyan Hu

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Circulating resistin levels and mutation burden of the RETN gene variants predict long-term mortality in a Taiwanese population by Lung-An Hsu, Ming-Sheng Teng, Semon Wu, Mei-Siou Liao, Hsin-Hua Chou, Yu-Lin Ko

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Exploring the role of ESR1 mutations in metastatic hormone receptor-positive breast cancer T cell immune surveillance disruption by Morgane Lopez, Laurie Spehner, Fabrice André, Julien Viot, Evan Seffar, Amélie Marguier, Elsa Curtit, Guillaume Meynard, Erion Dobi, Sylvain Ladoire, Romain Boidot, Romain Loyon, Valentin Derangere, François-Clément Bidard, Christophe Borg, Laura Mansi, Marie Kroemer

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PATL2 mutations affect human oocyte maternal mRNA homeostasis and protein interactions in cell cycle regulation by Yin-Li Zhang, Zhanhong Hu, Huifang Jiang, Jiamin Jin, Yan Zhou, Mengru Lai, Peipei Ren, Siya Liu, Ying-Yi Zhang, Yan Rong, Wei Zheng, Shen Zhang, Xiaomei Tong, Songying Zhang

Subjects: “…PATL2 mutation…”
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Variation of fatty acid composition in seed oil in the collection of induced oil flax (Linum humile Mill.) mutants by A. V. Tigova, A. I. Soroka

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Novel IL2RG gene mutation causing primary combined immunodeficiency disease: A case report and literature review by Fang Cao, Yingyu Shi, Fang Deng, Yu Yan

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Integration of bulk and single-cell RNA-seq reveals prognostic gene signatures in patients with bladder cancer treated with immune checkpoint inhibitors by Mina Cho, Hyun Chang, Ju Han Kim

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BRAF V600E-mutated lung adenocarcinoma with thyroid metastasis as the initial manifestation: a case report by Yufei Liu, Yufei Liu, Hanhan Lei, Hanhan Lei, Lingling Cai, Lingling Cai, Yuyan Tan, Xinyu Song

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Leveraging Quantum LSTM for High-Accuracy Prediction of Viral Mutations by Prashanth Choppara, Bommareddy Lokesh

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Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study by Tamaki Kato, Mamoru Yokomura, Yutaka Osawa, Kensuke Matsuo, Yuji Kubo, Taihei Homma, Kayoko Saito

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A Novel COL7A1 Mutation in a Patient With Dystrophic Epidermolysis Bullosa. Successful Treatment With Upadacitinib by Lai S, Lin C, Guo Z, Lai Y, Xie L, Wan C, Yang T, Li L

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Diagnostic utility of LEF1 and β-catenin in WNT pathway tumors with CTNNB1 mutation by Can Li, Lingdan Dong, Li Zhu, Wenbin Guan

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