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

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Comparative evaluation of four exome enrichment solutions in 2024: Agilent, Roche, Vazyme and Nanodigmbio by Vera Belova, Iuliia Vasiliadis, Zhanna Repinskaia, Alina Samitova, Anna Shmitko, Natalya Ponikarovskaya, Oleg Suchalko, Valery Cheranev, Shatalov Peter, Shegai Peter, Kaprin Andrey, Denis Rebrikov, Dmitriy Korostin

Subjects: “…Whole exome sequencing…”
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Identification of new candidate genes for the hereditary predisposition to uveal melanoma: IGCMU trial by Mélanie Godiveau, Mélanie Godiveau, Mélanie Godiveau, Angeline Ginzac, Angeline Ginzac, Angeline Ginzac, Yannick Bidet, Yannick Bidet, Flora Ponelle-Chachuat, Flora Ponelle-Chachuat, Maud Privat, Maud Privat, Xavier Durando, Xavier Durando, Xavier Durando, Xavier Durando, Mathias Cavaillé, Mathias Cavaillé, Mathis Lepage, Mathis Lepage

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Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease by Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petrilli, Laurence Loeuillet, Sarah Grotto, Tania Attie-Bitach, Jose E Abdenur, Robert W Taylor, Michal Minczuk

Subjects: “…Exome Sequencing…”
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Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy by Huafang Zou, Huafang Zou, Qian Zhang, Jianxiang Liao, Jianxiang Liao, Dongfang Zou, Zhanqi Hu, Bing Li, Li Chen, Jialun Wen, Xia Zhao, Victor Wei Zhang, Dezhi Cao, Dezhi Cao

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A rare haplotype of the GJD3 gene segregating in familial Meniere’s disease interferes with connexin assembly by Alba Escalera-Balsera, Paula Robles-Bolivar, Alberto M. Parra-Perez, Silvia Murillo-Cuesta, Han Chow Chua, Lourdes Rodríguez-de la Rosa, Julio Contreras, Ewa Domarecka, Juan Carlos Amor-Dorado, Andrés Soto-Varela, Isabel Varela-Nieto, Agnieszka J. Szczepek, Alvaro Gallego-Martinez, Jose A. Lopez-Escamez

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Exploratory analysis of a Novel RACK1 mutation and its potential role in epileptic seizures via Microglia activation by Sai Zhang, Zhaofei Dong, Jing Guo, Ze Li, Hong Wu, Linming Zhang, Fuli Min, Tao Zeng

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DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders by Dandan Wu, Ran Chen, Jerry Zhang, Wu Yan, Mengyin Chen, Dongqing Xia, Xiaonan Li, Yanyan Dai, Yinhua Chen, Rong Li

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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

Subjects: “…exome sequencing…”
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Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region by Ayat Kadhi, Lamiaa Hamie, Edward Eid, Georges Nemer, Mazen Kurban

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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

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SMARCA4-related Coffin-Siris syndrome in newborn: a case report and literature review by Yuqian Wang, Li Zhang, Jing Zhu, Liu Yang, Chan Wang, Ning Zou

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Association of HLA Genotype and Fulminant Type 1 Diabetes in Koreans by Soo Heon Kwak, Yoon Ji Kim, Jeesoo Chae, Cue Hyunkyu Lee, Buhm Han, Jong-Il Kim, Hye Seung Jung, Young Min Cho, Kyong Soo Park

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Novel heterozygous ASH1L nonsense variant involved in mild intellectual disability by Baoqiong Liao, Baoqiong Liao, Wuming Xie, Shuwen He

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Molecular characterization of a rare TP63 variant associated with split-hand/split-foot malformation 4 and incomplete penetrance: disruption of the p63-Dlx signaling pathway by Jianlong Zhuang, Yanqing Li, Yu’e Chen, Hegan Zhang, Shufen Liu, Manman Hu, Chunnuan Chen

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Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay by Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl, Diane Masser-Frye, Marilyn Jones, Celese Beaudreau, Nathaniel Robin, Dana Goodloe, Leandra Folk, Michelle M. Morrow, Deanna Alexis Carere

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Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC) by Yi-Lei Lu, Meng-wei Liu, Jie-Yuan Jin, Ding Pan

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Genetic basis of depressive disorders by Yu. D. Davydova, R. F. Enikeeva, A. V. Kazantseva, R. N. Mustafin, A. R. Romanova, S. B. Malykh, E. K. Khusnutdinov

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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

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Sotos syndrome with marked overgrowth in three Japanese patients with heterozygous likely pathogenic NSD1 variants: case reports with review of literature by Yohei Masunaga, Hiroyuki Ono, Yasuko Fujisawa, Kiyosu Taniguchi, Hirotomo Saitsu, Tsutomu Ogata

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