Adaptive evolution of SARS-CoV-2 during a persistent infection for 521 days in an immunocompromised patient by Hanno Schmidt, Lea Schick, Jürgen Podlech, Angélique Renzaho, Bettina Lieb, Stefan Diederich, Thomas Hankeln, Bodo Plachter, Oliver Kriege

“…npj Genomic Medicine…”
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Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays by Fuying Chen, Ruoqu Wei, Yumeng Wang, Qiaoyu Cao, Jianbo Wang, Chenfei Wang, Dingjin Yao, Zhirong Yao, Cheng Ni, Ming Li

“…npj Genomic Medicine…”
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Polygenic height prediction for the Han Chinese in Taiwan by Chih-Hao Chang, Che-Yu Chou, Timothy G. Raben, Shih-Ann Chen, Yuh-Jyh Jong, Jeng-Yih Wu, Shun-Fa Yang, Hsiang-Cheng Chen, Yen-Lin Chen, Ming Chen, Gwo-Chin Ma, Chih-Yang Huang, Tso-Fu Wang, Sing-Lian Lee, Chen-Fang Hung, See-Tong Pang, Erik Widen, Yao-Ming Chang, Erh-Chan Yeh, Chun-Yu Wei, Chien-Hsiun Chen, Stephen D. H. Hsu, Pui-Yan Kwok

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Pre-T cell receptor-α immunodeficiency detected exclusively using whole genome sequencing by Daniele Merico, Nigel Sharfe, Harjit Dadi, Bhooma Thiruvahindrapuram, Jill de Rijke, Zakia Dahi, Mehdi Zarrei, Abdulrahman Al Ghamdi, Azhar Al Shaqaq, Linda Vong, Stephen W. Scherer, Chaim M. Roifman

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A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report by Zahra Anvar, Farnoosh Jafarpour, Bahia Namavar Jahromi, Andrea Riccio, Mohammad Hossein Nasr‐Esfahani, Maria Vittoria Cubellis

“…Molecular Genetics & Genomic Medicine…”
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Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population by Mohamed H. Al‐Hamed, Alya Qari, Lamya Alrayes, Mohammed Alotaibi, Zainab Al Masseri, Afaf Alotaibi, Abdullah AlAshwal, Zuhair N. AlHassnan, Afaf Alsagheir

“…Molecular Genetics & Genomic Medicine…”
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Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3 by Haixia Zheng, Chongsheng Cheng, Miao He, Wangji Zhou, Yixuan Li, Jinrong Dai, Ting Zhang, Kai‐Feng Xu, Xue Zhang, Xinlun Tian, Yaping Liu

“…Molecular Genetics & Genomic Medicine…”
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Clinicopathological features of Lynch syndrome pedigrees with MSH2 c.351G>A gene variant by Shuai Zhang, Guanyu Fu, Gongping Sun, Yuanxin Tang, Jin Meng, Zhigang Wang, Rongjun Su, Wei Liu, Xiaoxia Li

“…Molecular Genetics & Genomic Medicine…”
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Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis by Kohta Nakamura, Yukiko Yatsuka, Sachie Naito, Akira Hasegawa, Takeya Kasukawa, Atsushi Kondo, Yoshihito Kishita, Yohei Sugiyama, Takanori Onuki, Tomohiro Ebihara, Tomoko Tsuruoka, Takuya Fushimi, Akira Ohtake, Kei Murayama, Atsuko Imai‐Okazaki, Yasushi Okazaki

“…Molecular Genetics & Genomic Medicine…”
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Phenylbutyric Acid Modulates Apoptosis and ER Stress‐Related Gene Expression in Glycogen Storage Disease Type Ib In Vitro Model by Marina Parezanovic, Nina Stevanovic, Marina Andjelkovic, Milena Ugrin, Sonja Pavlovic, Maja Stojiljkovic, Anita Skakic

“…Molecular Genetics & Genomic Medicine…”
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Influence of the Sex of Translocation Carrier on Clinical Outcomes of Couples Undergoing Preimplantation Genetic Testing by Zhiping Zhang, Jiayao Chen, Lei Zhang, Ruiyang Wei, Zhen Liu, Dunmei Zhao, Xingyu Bi, Lixia Liang, Xueluo Zhang, Dan Su, Xueqing Wu

“…Molecular Genetics & Genomic Medicine…”
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RHOBTB2 Variant p.Arg511Gln Causes Developmental and Epileptic Encephalopathy Type 64 in an Infant: A Case Report and Hotspot Variant Analysis by Qian Liu, Feifei Li, Qin Ruan, Nana Wang, Zhengjun Fan

“…Molecular Genetics & Genomic Medicine…”
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Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1... by A. A. Kashevarova, M. E. Lopatkina, O. Yu. Vasilyeva, D. A. Fedotov, A. D. Lobanov, E. A. Fonova, I. Z. Zhalsanova, A. A. Zarubin, O. A. Salyukova, E. O. Belyaeva, V. V. Petrova, E. G. Ravzhaeva, A. A. Agafonova, A. D. Cheremnykh, N. B. Torkhova, S. L. Vovk, I. N. Lebedev

“…Molecular Genetics & Genomic Medicine…”
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A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy by Hane Lee, Dongseok Moon, Rin Khang, Go Hun Seo, Chang Ki Yoon, Un Chul Park, Kyu Hyung Park, Eun Kyoung Lee

“…Molecular Genetics & Genomic Medicine…”
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Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection by Li‐min Cui, Hua‐ying Hu, Xiao‐mei Zhai, Ming‐fei Qi, Yan‐ming Liu, Cong‐ying Han, Jing Zhang, Ming Shen, Yu‐lan Xiang, Wen‐qi Chen, Kai Yang, Dong‐liang Zhang, Huan‐xia Xing

“…Molecular Genetics & Genomic Medicine…”
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A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review by Ying Yang, Liqing Chen, Zhenzhen Wang, Yaling Ding, Yan Liu

“…Molecular Genetics & Genomic Medicine…”
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Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of... by Mohammad‐Reza Ghasemi, Zahra Esmaeilizadeh, Sahand Tehrani Fateh, Hossein Sadeghi, Saman Bagheri, Farzad Hashemi‐Gorji, Morteza Sheikhi Nooshabadi, Rasoul Madannezhad, Toktam Sadat Tavabe Ghavami, Reza Mirfakhraie, Mohammad Miryounesi

“…Molecular Genetics & Genomic Medicine…”
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