Demonstration of in vivo engineered tandem duplications of varying sizes using CRISPR and recombinases in Drosophila melanogaster

por Loehlin, David W, McClain, Georgia L, Xu, Manting, Kedia, Ria, Root, Elise
Publicado 2023

Demonstration of in vivo engineered tandem duplications of varying sizes using CRISPR and recombinases in Drosophila melanogaster

por Loehlin, David W., McClain, Georgia L., Xu, Manting, Kedia, Ria, Root, Elise
Publicado 2023

“A fly appeared”: sable, a classic Drosophila mutation, maps to Yippee, a gene affecting body color, wings, and bristles

por Dean, Derek M, Deitcher, David L, Paster, Caleigh O, Xu, Manting, Loehlin, David W
Publicado 2022

Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation

por Li, Hua, Fang, Fang, Xu, Manting, Liu, Zhimei, Zhou, Ji, Wang, Xiaohui, Wang, Xiaofei, Han, Tongli
Publicado 2019

Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome

por Wang, Junling, Liu, Zhimei, Xu, Manting, Han, Xiaodi, Ren, Changhong, Yang, Xinying, Zhang, Chunhua, Fang, Fang
Publicado 2021

Identification of a Novel Variant in MT-CO3 Causing MELAS

por Xu, Manting, Kopajtich, Robert, Elstner, Matthias, Wang, Zhaoxia, Liu, Zhimei, Wang, Junling, Prokisch, Holger, Fang, Fang
Publicado 2021

Corrigendum: Cinical, Metabolic, and Genetic Analysis and Follow-Up of Eight Patients With HIBCH Mutations Presenting With Leigh/Leigh-Like Syndrome

por Wang, Junling, Liu, Zhimei, Xu, Manting, Han, Xiaodi, Ren, Changhong, Yang, Xinying, Zhang, Chunhua, Fang, Fang
Publicado 2021

Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient

por Ban, Rui, Liu, Zhimei, Shimura, Masaru, Tong, Xiao, Wang, Junling, Yang, Lei, Xu, Manting, Xiao, Jing, Murayama, Kei, Elstner, Matthias, Prokisch, Holger, Fang, Fang
Publicado 2021

Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers’ Syndrome Genotypes

por Li, Hua, Wang, Wei, Han, Xiaodi, Zhang, Yujia, Dai, Lifang, Xu, Manting, Deng, Jie, Ding, Changhong, Wang, Xiaohui, Chen, Chunhong, Yang, Xiaofeng, Fang, Fang
Publicado 2021

Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy

por Liu, Zhimei, Zhang, Li, Ren, Changhong, Xu, Manting, Li, Shufang, Ban, Rui, Wu, Ye, Chen, Ling, Sun, Suzhen, Elstner, Matthias, Shimura, Masaru, Ogawa-Tominaga, Minako, Murayama, Kei, Shi, Tieliu, Prokisch, Holger, Fang, Fang
Publicado 2022

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

por Yépez, Vicente A., Gusic, Mirjana, Kopajtich, Robert, Mertes, Christian, Smith, Nicholas H., Alston, Charlotte L., Ban, Rui, Beblo, Skadi, Berutti, Riccardo, Blessing, Holger, Ciara, Elżbieta, Distelmaier, Felix, Freisinger, Peter, Häberle, Johannes, Hayflick, Susan J., Hempel, Maja, Itkis, Yulia S., Kishita, Yoshihito, Klopstock, Thomas, Krylova, Tatiana D., Lamperti, Costanza, Lenz, Dominic, Makowski, Christine, Mosegaard, Signe, Müller, Michaela F., Muñoz-Pujol, Gerard, Nadel, Agnieszka, Ohtake, Akira, Okazaki, Yasushi, Procopio, Elena, Schwarzmayr, Thomas, Smet, Joél, Staufner, Christian, Stenton, Sarah L., Strom, Tim M., Terrile, Caterina, Tort, Frederic, Van Coster, Rudy, Vanlander, Arnaud, Wagner, Matias, Xu, Manting, Fang, Fang, Ghezzi, Daniele, Mayr, Johannes A., Piekutowska-Abramczuk, Dorota, Ribes, Antonia, Rötig, Agnès, Taylor, Robert W., Wortmann, Saskia B., Murayama, Kei, Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
Publicado 2022