Broken silence: 22,841 predicted deleterious synonymous variants identified in the human exome through computational analysis by Ana Carolina Mello, Delva Leao, Luis Dias, Felipe Colombelli, Mariana Recamonde-Mendoza, Andreia Carina Turchetto-Zolet, Ursula Matte

Subjects: “…Synonymous variants…”
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Quantifying negative selection on synonymous variants by Mikhail Gudkov, Loïc Thibaut, Eleni Giannoulatou

Subjects: “…synonymous variants…”
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Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant by Jun Li, Jun Li, Jun Li, Ping Wang, Cuiyun Zhang, Cuiyun Zhang, Cuiyun Zhang, Sile Han, Han Xiao, Zhiyuan Liu, Xiaoyan Wang, Xiaoyan Wang, Xiaoyan Wang, Weiling Liu, Bing Wei, Bing Wei, Bing Wei, Jie Ma, Jie Ma, Jie Ma, Hongle Li, Yongjun Guo, Yongjun Guo, Yongjun Guo

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Predicting Functional Effects of Synonymous Variants: A Systematic Review and Perspectives by Zishuo Zeng, Zishuo Zeng, Yana Bromberg, Yana Bromberg

Subjects: “…synonymous variants…”
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Synonymous variant at the terminal nucleotide in exon 3 of F7 causes abnormal splicing: A case report by Liya Wang, Wenshan Zeng, Yeqing Qian, Yixi Sun, Min Chen, Bei Liu, Junjie Hu, Ping Yu, Minyue Dong

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Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants by Upendra K. Katneni, Aaron Liss, David Holcomb, Nobuko H. Katagiri, Ryan Hunt, Haim Bar, Amra Ismail, Anton A. Komar, Chava Kimchi‐Sarfaty

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Genetic analysis for rs2280205 (A>G) and rs2276961 (T>C) in SLC2A9 polymorphism for the susceptibility of gout in Cameroonians: a pilot study by Jan René Nkeck, Madeleine Singwé Ngandeu, Vicky Ama Moor, Jériel Pascal Nkeck, Jean-Pierre Chedjou, Aude Laetitia Ndoadoumgue, Wilfred F. Mbacham

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Functional Consequences of Pathogenic Variants of the <i>GJB2</i> Gene (Cx26) Localized in Different Cx26 Domains by Olga L. Posukh, Ekaterina A. Maslova, Valeriia Yu. Danilchenko, Marina V. Zytsar, Konstantin E. Orishchenko

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Synonymous variants in the ATP6AP2 gene may lead to developmental and epileptic encephalopathy by Yan Liang, Yan Liang, Yan Liang, Lin Wan, Lin Wan, Lin Wan, Huimin Yan, Huimin Yan, Huimin Yan, Xinting Liu, Xinting Liu, Xinting Liu, Jing Zhang, Jing Zhang, Jing Zhang, Gang Zhu, Gang Zhu, Gang Zhu, Guang Yang, Guang Yang, Guang Yang

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Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles by Elisa Molinari, Shalabh Srivastava, Rebecca M. Dewhurst, John A. Sayer

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A synonymous variant in GCK gene as a cause of gestational diabetes mellitus by Natalia A. Zubkova, Petr M. Rubtsov, Fatima F. Burumkulova, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasilyev, Vasily M. Petrov, Anatoly N. Tiulpakov

Subjects: “…synonymous variant…”
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Erratum: a synonymous variant in GCK gene as a cause of gestational diabetes mellitus (diabetes mellitus. 2019;22(2). Doi: 10.14341/dm9938) by Natalia A. Zubkova, Petr M. Rubtsov, Fatima F. Burumkulova, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasilyev, Vasily M. Petrov, Anatoly N. Tiulpakov

Subjects: “…synonymous variant…”
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Case Report: Identification and Functional Analysis of a Homozygous Synonymous Variant in the PLOD1 Gene in a Chinese Neonatal With the Ehlers–Danlos Syndrome by Xiaodan Yan, Xiaodan Yan, Jianbo Shu, Jianbo Shu, Yanyan Nie, Ying Zhang, Ying Zhang, Ping Wang, Ping Wang, Weiwei Zhou, Weiwei Zhou, Xiaoyu Cui, Xiaoyu Cui, Yang Liu

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A homozygote variant in the tRNA splicing endonuclease subunit 54 causes pontocerebellar hypoplasia in a consanguineous Iranian family by Afrooz Sepahvand, Ehsan Razmara, Fatemeh Bitarafan, Mohammad Galehdari, Ali Reza Tavasoli, Navid Almadani, Masoud Garshasbi

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A synonymous KCNJ11 variant leading to MODY13: A case report and literature review by Congli Chen, Yurong Piao, Yanmei Sang

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Clinical and molecular characterization of a patient with MBTPS1 related spondyloepiphyseal dysplasia: Evidence of pathogenicity for a synonymous variant by Yeqing Yuan, Qiaoli Zhou, Chunli Wang, Wei Zhou, Wei Gu, Bixia Zheng

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Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Tela... by Tatiana Maroilley, Tatiana Maroilley, Tatiana Maroilley, Nicola A. M. Wright, Nicola A. M. Wright, Catherine Diao, Catherine Diao, Catherine Diao, Linda MacLaren, Linda MacLaren, Gerald Pfeffer, Gerald Pfeffer, Justyna R. Sarna, Ping Yee Billie Au, Ping Yee Billie Au, Maja Tarailo-Graovac, Maja Tarailo-Graovac, Maja Tarailo-Graovac

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Pathogenic evaluation of synonymous COL4A5 variants in X‐linked Alport syndrome using a minigene assay by Tomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, China Nagano, Nana Sakakibara, Koichi Nakanishi, Yuko Shima, Naoya Morisada, Shinya Ishiko, Yuya Aoto, Hiroaki Nagase, Hiroki Takeda, Rini Rossanti, Shingo Ishimori, Hiroshi Kaito, Masafumi Matsuo, Kazumoto Iijima, Kandai Nozu

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Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families by Qiang Li, Yiting Wang, Yijun Pan, Jia Wang, Weishi Yu, Xiaodong Wang

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Assessing the impact of a rare synonymous variant in the <i>KNG1</i> gene on the development of hereditary angioedema by N. A. Pechnikova, Yu. V. Ostankova, M. A. Saitgalina, A. M. Bebyakov, A. A. Totolian

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