Novel Heterozygous Sequence Variant in the HOXD13 Gene Underlie Non-syndromic Syndactyly by Safdar Abbas, Farooq Ahmad, Misbah Kanwal, Annum Sultan, Gulab Said, Muhammad Umair

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A Novel Subtype of Spondylocostal Dysplasia Associated With a Heterozygous Missense FLNA Variant by Haoyu Cai, Xu'an Huang, Haojie Chen, Junduo Zhao, Heng Sun, Yizhen Huang, Jiayue Guo, Jianxiong Shen

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Editorial: Functional study of novel VUS (variant of uncertain significance) mutations in single-gene inherited disease by Guohua Yang, Hua Zhong, Huiliang Wen, Yiping Shen, Yiping Shen

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Functional Investigation of a Novel PIWIL4 Mutation in Nonobstructive Azoospermia During the First Wave of Spermatogenesis by Xiayu Wang, Qian Du, Wanqian Li, Zhongyu Zou, Chikun Wang, Yan Zhou, Zhibin Hu, Yayun Gu, Feng Li

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Whole-genome resequencing reveals new mutations in candidate genes for Beichuan-white goat prolificacya by Aimin Zhou, Yi Ding, Xiaohui Zhang, Yugang Zhou, Yadong Liu, Tingjian Li, Long Xiao

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Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report by Jia Zhang, MengYue Guo, DongYang Yuan, JinYang Wei, Hongzhou Cui, Hongzhou Cui

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A‐TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early‐onset dystonia, cancer, and life‐threatening rad... by Kotoka Nakamura, Francesca Fike, Sara Haghayegh, Rachel Saunders‐Pullman, Angelika J. Dawson, Thilo Dörk, Richard A. Gatti

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MUTATIONS IN THE ARX GENE: CLINICAL, ELECTROENCEPHALOGRAPHIC AND NEUROIMAGING FEATURES IN 3 PATIENTS by I. V. Ivanova, K. Yu. Mukhin, O. A. Pylaeva, M. Yu. Bobylova, N. E. Kvaskova, A. S. Petrukhin

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Missense Mutations in <i>FDNC5</i> Associated with Morphometric Traits and Meat Quality in Hainan Black Goats by Jing Huang, Mengning Xu, Yuelang Zhang, Jiancheng Han, Hanlin Zhou, Ke Wang

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“In silico analysis of human TLR3 missense single nucleotide polymorphisms and their potential association with cancer” by Mohini Agarwal, Manish Kumar, Sarthak Dahiya, Anoop Kumar, Rupal Tripathi, Kumud Bala

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PROS1 (Cys228Tyr) missense mutation associated with mesenteric and pulmonary venous thromboembolism during the COVID-19 pandemic: a case report by Jingyi Huang, Jingyi Huang, Yunjian Zhang, Haixu Yu, Wei Liu

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In silico analysis of IL7RA missense mutations in lung, breast and skin cancers by Zeynep Tokcaer Keskin

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A novel missense single-nucleotide polymorphism (c.149G>A) in the bovine leptin gene and its association with growth traits in Madura cattle by Kuswati Kuswati, Irida Novianti, Rizki Prafitri, Wike Andre Septian, Rafika Febriani Putri, Chairdin Dwi Nugraha, Ahmad Furqon

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Sam-Sam Association Between EphA2 and SASH1: In Silico Studies of Cancer-Linked Mutations by Marian Vincenzi, Flavia Anna Mercurio, Ida Autiero, Marilisa Leone

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Impact of cysteine mutations on the structural dynamics and functional impairment of SOD1: insights into the pathogenicity of amyotrophic lateral sclerosis by Jessica Jeejan, Lawanya Rao, Shivank Sadasivan, Richa Lopes, Norine Dsouza

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Hereditary motor and sensory neuropathy, caused by mutations in the NEFL gene in a family from Karachaevo-Cherkessia by E. L. Dadali, A. Kh.-M. Маkаоv, V. A. Galkina, F. A. Konovalov, A. V. Polyakov, M. V. Bulakh, R. A. Zinchеnkо

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SNP Polymorphism in Genomes of CC320 Isolates of Streptococcus pneumoniae Resistant to Beta-Lactams by I. A. Tzvetkova, M. Q. Volkova, Q. S. Kalinogorskaya, S. S. Belanov, V. V. Gostev, S. V. Sidorenko

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Miyoshi myopathy: diagnosis of a familial case of dysferlinopathy by V. P. Fedotov, O. P. Ryzhkova, A. V. Polyakov

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LuTHy: a double‐readout bioluminescence‐based two‐hybrid technology for quantitative mapping of protein–protein interactions in mammalian cells by Philipp Trepte, Sabrina Kruse, Simona Kostova, Sheila Hoffmann, Alexander Buntru, Anne Tempelmeier, Christopher Secker, Lisa Diez, Aline Schulz, Konrad Klockmeier, Martina Zenkner, Sabrina Golusik, Kirstin Rau, Sigrid Schnoegl, Craig C Garner, Erich E Wanker

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AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma by David J. Taylor Gonzalez, MD, Mak B. Djulbegovic, MD, MSc, Meghan Sharma, MD, MPH, Michael Antonietti, BS, Colin K. Kim, BS, Vladimir N. Uversky, PhD, DSc, Carol L. Karp, MD, Carol L. Shields, MD, Matthew W. Wilson, MD

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