A Novel Large-Scale Deletion of The Mitochondrial DNA of Spermatozoa of Men in North Iran by Maryam Gholinezhad Chari, Abasalt Hosseinzadeh Colagar, Ali Bidmeshkipour

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Analysis of EX5del4232ins268 and EX5del955 PAH gene mutations in Ukrainian patients with phenylketonuria by Volodymyr Pampukha, Maryna Nechyporenko, Ludmila Livshyts

Subjects: “…Large deletions…”
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Precise breakpoint localization of large genomic deletions using PacBio and Illumina next-generation sequencers by Michal J Okoniewski, Janine Meienberg, Andrea Patrignani, Alicja Szabelska, Gabor Matyas, Ralph Schlapbach

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Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis by Silvia Vidal, Ainhoa Pascual‐Alonso, Marc Rabaza‐Gairí, Edgar Gerotina, Nuria Brandi, Paola Pacheco, Clara Xiol, Mercè Pineda, Rett Working Group, Judith Armstrong

Subjects: “…large deletions…”
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Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene by Tenghui Wu, Ciliu Zhang, Fang He, Li Yang, Fei Yin, Jing Peng

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Tumour mutational burden using a targeted panel approach for comprehensive tumour profiling focusing on colorectal cancer by Rodney J. Scott, Andrew Ziolkowski, David Mossman, Michael Hipwell

Subjects: “…Epigenetic change and large deletions…”
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Editing of homologous globin genes by nickase-deficient base editor mitigates large intergenic deletions in HSPCs by Anila George, Poornasree Sadanandan, Nithin Sam Ravi, B. Vaishnavi, Srujan Marepally, Saravanbhavan Thangavel, Shaji R. Velayudhan, Alok Srivastava, Kumarasamypet M Mohankumar

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Complement factor I deficiency: a not so rare immune defect. Characterization of new mutations and the first large gene deletion by Alba-Domínguez María, López-Lera Alberto, Garrido Sofía, Nozal Pilar, González-Granado Ignacio, Melero Josefa, Soler-Palacín Pere, Cámara Carmen, López-Trascasa Margarita

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Modulation of the microhomology-mediated end joining pathway suppresses large deletions and enhances homology-directed repair following CRISPR-Cas9-induced DNA breaks by Baolei Yuan, Chongwei Bi, Yeteng Tian, Jincheng Wang, Yiqing Jin, Khaled Alsayegh, Muhammad Tehseen, Gang Yi, Xuan Zhou, Yanjiao Shao, Fernanda Vargas Romero, Wolfgang Fischle, Juan Carlos Izpisua Belmonte, Samir Hamdan, Yanyi Huang, Mo Li

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Identification of four novel large deletions and complex variants in the α-globin locus in Chinese population by Xiuqin Bao, Jicheng Wang, Danqing Qin, Cuize Yao, Jie Liang, Kailing Liang, Yukun Zeng, Li Du

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A large deletion conferring pale green leaves of maize by Guoqi Yao, Hua Zhang, Bingying Leng, Bing Cao, Juan Shan, Zhenwei Yan, Haiying Guan, Wen Cheng, Xia Liu, Chunhua Mu

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Large deletion in PIGL: a common mutational mechanism in CHIME syndrome? by José RM Ceroni, Guilherme L Yamamoto, Rachel S Honjo, Chong A Kim, Maria R Passos-Bueno, Débora R Bertola

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Analysis of large deletion mutations induced by abasic site analog in human cells by Tetsuya Suzuki, Yuri Katayama, Yasuo Komatsu, Hiroyuki Kamiya

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Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea by Zhimei Liu, Li Zhang, Li Zhang, Danmin Shen, Changhong Ding, Xinying Yang, Weihua Zhang, Jiuwei Li, Jie Deng, Shuai Gong, Jun Liu, Suyun Qian, Fang Fang

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Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene by Diniz G, Tekgul H, Hazan F, Yararbas K, Tukun A

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The CRISPR/Cas9 induces large genomic fragment deletions of MSTN and phenotypic changes in sheep by Yi DING, Shi-wei ZHOU, Qiang DING, Bei CAI, Xiao-e ZHAO, Shu ZHONG, Miao-han JIN, Xiao-long WANG, Bao-hua MA, Yu-lin CHEN

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Phenotype and genotype of FXIII deficiency in two unrelated probands: identification of a novel F13A1 large deletion mediated by complex rearrangement by Siyu Ma, Changming Chen, Qian Liang, Xi Wu, Xuefeng Wang, Wenman Wu, Yan Liu, Qiulan Ding

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Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature by Gergely Buki, Renata Szalai, Adrienn Pinter, Kinga Hadzsiev, Bela Melegh, Tibor Rauch, Judit Bene

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Adenine base editors induce off-target structure variations in mouse embryos and primary human T cells by Leilei Wu, Shutan Jiang, Meisong Shi, Tanglong Yuan, Yaqin Li, Pinzheng Huang, Yingqi Li, Erwei Zuo, Changyang Zhou, Yidi Sun

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A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family by Ruizheng Zhu, Jie Xu, Juan Shen, Wenru Li, Fei Tan, Changchang Li, Zhichen Wei, Yeqiang Liu, Yun Bai

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