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 a pathogenic SDHD mutation in a Chinese family with hereditary head and neck paraganglioma: implications for genetic counseling and management by Pu Wang, Liming Gao, Wenyang Zhang, Rui Guo, Yin Xia

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A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility by Zheng Zhou, Qi Qi, Wen-Hua Wang, Jie Dong, Juan-Juan Xu, Yu-Ming Feng, Zhi-Chuan Zou, Li Chen, Jin-Zhao Ma, Bing Yao

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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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A family with normal sperm motility carrying a sY86 deletion in AZFa region and partial deletion in AZFc region by Yuhong Zhao, Weiwei Zhi, Weiwei Zhi, Dongsheng Xiong, Dongsheng Xiong, Ningjing Li, Xinrong Du, Jiuzhi Zeng, Jiuzhi Zeng, Guohui Zhang, Guohui Zhang, Weixin Liu, Weixin Liu

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Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder by Amal Bouzid, Malek Belcadhi, Amal Souissi, Meryam Chelly, Fakher Frikha, Hela Gargouri, Crystel Bonnet, Fida Jebali, Salma Loukil, Christine Petit, Saber Masmoudi, Rifat Hamoudi, Mariem Ben Said

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Effect of Next-Generation Exome Sequencing Depth for Discovery of Diagnostic Variants by Kyung Kim, Moon-Woo Seong, Won-Hyong Chung, Sung Sup Park, Sangseob Leem, Won Park, Jihyun Kim, KiYoung Lee, Rae Woong Park, Namshin Kim

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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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Application of copy number variation sequencing combined with whole exome sequencing in prenatal left–right asymmetry disorders by Yu Qin, Muon Senglong, Koksear Touch, Juan Xiao, Ruijie Fang, Qingling kang, Lei Fan, Shufang Li, Jing Liu, Jianli Wu, Yuanyuan Wu, Xinwei Shi, Haiyi Liu, Xun Gong, Xingguang Lin, Ling Feng, Suhua Chen, Wei Li

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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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Ultra-rare Disease and Genomics-Driven Precision Medicine by Sangmoon Lee, Murim Choi

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Prognostic determinants and functional role of PIK3C2G in stage IIb-IIIa lung adenocarcinoma: insights from clinical and molecular analyses by Chao Gao, Jiaqi Zhang, Xin Du, Xuehan Gao, Xiayao Diao, Ke Zhao, Yeye Chen, Shanqing Li

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Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center by Simona Fecarotta, Lorenzo Vaccaro, Alessandra Verde, Marianna Alagia, Alessandro Rossi, Chiara Colantuono, Maria Teresa Cacciapuoti, Patrizia Annunziata, Sara Riccardo, Antonio Grimaldi, Tonya Fusco, Rosa De Santis, Fernando Barretta, Lucia Albano, Daniela Crisci, Fabiana Vallone, Antonietta Tarallo, Marcella Cesana, Nicola Brunetti-Pierri, Giulia Frisso, Margherita Ruoppolo, Davide Cacchiarelli, Giancarlo Parenti

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A remarkable and durable response to tislelizumab treatment of an anaplastic thyroid carcinoma without targetable genomic alterations: a case report by Jingjing Chai, Jiaqi Lv, Jian Xiong, Xiuwen Chen, Senyuan Luo, Zhiguo Luo, Zhiguo Luo, Ming Luo

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Zellweger syndrome; identification of mutations in PEX19 and PEX26 gene in Saudi families by Abdulfatah M. Alayoubi, Ambreen Ijaz, Abdul Wali, Jamil A. Hashmi, Azizah Alharbi, Sulman Basit

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Discovery of mutated oncodriver genes associated with glioblastoma originated from stem cells of subventricular zone through whole exome sequence profile analysis, and drug repurpo... by Arnob Sarker, Burhan Uddin, Reaz Ahmmed, Sabkat Mahmud, Alvira Ajadee, Md. Al Amin Pappu, Md. Abdul Aziz, Md. Nurul Haque Mollah

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A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome by Sujie Xiong, Guangyao Hu, Yao Zhou, Fei Sun, Yanlin Ma

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PRMT5 inhibition has a potent anti-tumor activity against adenoid cystic carcinoma of salivary glands by Vasudha Mishra, Alka Singh, Michael Korzinkin, Xiangying Cheng, Claudia Wing, Viktoria Sarkisova, Ashwin L. Koppayi, Alexandra Pogorelskaya, Oksana Glushchenko, Manu Sundaresan, Venkat Thodima, Jack Carter, Koichi Ito, Peggy Scherle, Anna Trzcinska, Ivan Ozerov, Everett E. Vokes, Grayson Cole, Frank W. Pun, Le Shen, Yuxuan Miao, Alexander T. Pearson, Mark W. Lingen, Bruce Ruggeri, Ari J. Rosenberg, Alex Zhavoronkov, Nishant Agrawal, Evgeny Izumchenko

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