MET mutation causes muscular dysplasia and arthrogryposis by Hang Zhou, Chengjie Lian, Tingting Wang, Xiaoming Yang, Caixia Xu, Deying Su, Shuhui Zheng, Xiangyu Huang, Zhiheng Liao, Taifeng Zhou, Xianjian Qiu, Yuyu Chen, Bo Gao, Yongyong Li, Xudong Wang, Guoling You, Qihua Fu, Christina Gurnett, Dongsheng Huang, Peiqiang Su

Subjects: Get full text

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease by Fadi I. Musfee, Dongchuan Guo, Amélie C. Pinard, Ellen M. Hostetler, Elizabeth E. Blue, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics (UW‐CMG), Michael J. Bamshad, Dianna M. Milewicz, Siddharth K. Prakash

Subjects: Get full text

Determining homologous recombination deficiency scores with whole exome sequencing and their association with responses to neoadjuvant chemotherapy in breast cancer by Seung Jin Kim, Yoshiaki Sota, Yasuto Naoi, Keiichiro Honma, Naofumi Kagara, Tomohiro Miyake, Masafumi Shimoda, Tomonori Tanei, Shigeto Seno, Hideo Matsuda, Shinzaburo Noguchi, Kenzo Shimazu

Subjects: Get full text

Genomic and Metabolomic Landscape of Right-Sided and Left-Sided Colorectal Cancer: Potential Preventive Biomarkers by Ming-Wei Su, Chung-Ke Chang, Chien-Wei Lin, Hou-Wei Chu, Tsen-Ni Tsai, Wei-Chih Su, Yen-Cheng Chen, Tsung-Kun Chang, Ching-Wen Huang, Hsiang-Lin Tsai, Chang-Chieh Wu, Huang-Chi Chou, Bei-Hao Shiu, Jaw-Yuan Wang

Subjects: Get full text

Clinical genomics and precision medicine by Sérgio D. J. Pena, Eduardo Tarazona-Santos

Subjects: Get full text

Frequency of Congenital Sucrase-Isomaltase Deficiency by Whole Exome Sequencing: Is It Really Rare? by Fatma İssi Irlayıcı, Halil Özbaş, Hakan Salman, Mustafa Akçam

Subjects: Get full text

Clinical and genetic screening in a large Iranian family with Marfan syndrome: A case study by Farzane Vafaeie, Zahra Miri Karam, Abolfazl Yari, Hossein Safarpour, Tooba Kazemi, Shokoofeh Etesam, Mojtaba Mohammadpour, Ebrahim Miri‐Moghaddam

Subjects: Get full text

A Han Chinese Family With Early-Onset Parkinson's Disease Carrying Novel Frameshift Mutation and Compound Heterozygous Mutation of PRKN Appearing Incompatible With MDS Clinical Dia... by Chenyu Gao, Ting Huang, Rui Chen, Zhenhua Yuan, Youyong Tian, Yingdong Zhang

Subjects: Get full text

Protein structural insights into a rare PCSK9 gain-of-function variant (R496W) causing familial hypercholesterolemia in a Saudi family: whole exome sequencing and computational ana... by Noor Ahmad Shaik, Noor Ahmad Shaik, Najla Al-Shehri, Mohammad Athar, Mohammad Athar, Ahmed Awan, Mariam Khalili, Hadiah Bassam Al Mahadi, Gehan Hejazy, Omar I. Saadah, Sameer Eida Al-Harthi, Ramu Elango, Ramu Elango, Babajan Banaganapalli, Babajan Banaganapalli, Eman Alefishat, Eman Alefishat, Eman Alefishat, Zuhier Awan

Subjects: Get full text

Whole exome sequence reveals genetic profiles of primary cardiomyopathy and genotype-phenotype association in Chinese population by Rui-lin Liu, Yi-feng Yang, Ke Gong, Lei Wang, Yao Yao, Li Xie

Subjects: “…Whole exome sequence…”
Get full text

Genetic diagnosis of fetal microcephaly at a single tertiary center in China by You Wang, You Wang, Fang Fu, Tingying Lei, Li Zhen, Qiong Deng, Hang Zhou, Chunling Ma, Ken Cheng, Ken Cheng, Ruibin Huang, Ru Li, Qiuxia Yu, Lushan Li, Jin Han, Xin Yang, Dongzhi Li, Can Liao, Can Liao

Subjects: Get full text

Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China by Yingchao Liu, Yingchao Liu, Chanjuan Hao, Kechun Li, Kechun Li, Xuyun Hu, Hengmiao Gao, Hengmiao Gao, Jiansheng Zeng, Jiansheng Zeng, Ruolan Guo, Jun Liu, Jun Guo, Zheng Li, Zheng Li, Zhan Qi, Xinlei Jia, Xinlei Jia, Wei Li, Suyun Qian, Suyun Qian

Subjects: “…whole exome sequence…”
Get full text

Retinitis pigmentosa and molar tooth sign caused by novel AHI1 compound heterozygote pathogenic variants by Chunyan Chen, Jiong Gao, Qing Lv, Chen Xu, Yu Xia, Ailian Du

Subjects: Get full text

Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature by Wei-Yu Chen, Dau-Ming Niu, Li-Zhen Chen, Chia-Feng Yang

Subjects: Get full text

Patterns and unique features of infantile cholestasis among Arabs by Abdulrahman Al-Hussaini, Abdulrahman Al-Hussaini, Abdulrahman Al-Hussaini, Sami Alrashidi, Deema H. Hafez, Yasir S. Alkhalifah, Bashaer Otayn, Majid Alrasheed, Sumayah Al Mufarreh, Sultan AlKasim

Subjects: Get full text

Whole-exome sequencing of oral epithelial dysplasia samples reveals an association with new genes by Daniela ADORNO-FARIAS, Jean Nunes dos SANTOS, Wilfredo GONZÁLEZ-ARRIAGADA, Sandra TARQUINIO, Rodrigo Alberto SANTIBÁÑEZ PALOMINOS, Alberto Jesus MARTÍN MARTÍN, Ricardo FERNANDEZ-RAMIRES

Subjects: Get full text

Exome-Wide Search for Genes Associated With Central Nervous System Inflammatory Demyelinating Diseases Following CHIKV Infection: The Tip of the Iceberg by Soniza Vieira Alves-Leon, Soniza Vieira Alves-Leon, Cristina dos Santos Ferreira, Alice Laschuk Herlinger, Fabricia Lima Fontes-Dantas, Fernanda Cristina Rueda-Lopes, Ronaldo da Silva Francisco, João Paulo da Costa Gonçalves, João Paulo da Costa Gonçalves, Amanda Dutra de Araújo, Amanda Dutra de Araújo, Cláudia Cecília da Silva Rêgo, Cláudia Cecília da Silva Rêgo, Luiza Mendonça Higa, Alexandra Lehmkuhl Gerber, Ana Paula de Campos Guimarães, Mariane Talon de Menezes, Marcelo Calado de Paula Tôrres, Richard Araújo Maia, Bruno Miceli Gonzalez Nogueira, Laise Carolina França, Marcos Martins da Silva, Christian Naurath, Aline Saraiva da Silva Correia, Claudia Cristina Ferreira Vasconcelos, Amilcar Tanuri, Orlando Costa Ferreira, Cynthia Chester Cardoso, Renato Santana Aguiar, Ana Tereza Ribeiro de Vasconcelos

Subjects: “…whole exome sequence…”
Get full text

A novel, likely pathogenic variant in UBTF‐related neurodegeneration with brain atrophy is associated with a severe divergent neurodevelopmental phenotype by Rory J. Tinker, Tiffany Guess, David C. Rinker, Jonathan H. Sheehan, Daniel Lubarsky, Binu Porath, Mackenzie Mosera, Ping Mayo, Emily Solem, Laura A. Lee, Asha Sarma, Jennifer Brault

Subjects: Get full text

A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family by Xiaoying Xie, Juan Du, Shunkang Geng, Baoqin Yi, Qingpu Li, Jiangcheng Zuo

Subjects: Get full text

Effects of quantitative trait loci determining testicular weight in DDD/Sgn inbred mice are strongly influenced by circulating testosterone levels by Jun-ichi Suto, Misaki Kojima

Subjects: Get full text