Concepedia

Manting Xu

MX

Statistics

Publications

9

Citations

388

H-Index

9

Active since

2018

Affiliations

Beijing Children’s Hospital(Current)

Capital Medical University

Helmholtz Zentrum München

Technical University of Munich

Royal Victoria Infirmary

Manting Xu is an author at Beijing Children’s Hospital specializing in life sciences, genetics, and genetic disorders.

ORCID

Publications per year

2018–2023

9

Publications

9

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 207 citations · Full text

, , +17

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

Katharina Danhauser, Bader Alhaddad, Christine Makowski et al. · The American Journal of Human Genetics · 2018 · 61 citations · Full text

, , +16

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · medRxiv · 2021 · 33 citations · Full text

, , +17

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

Junling Wang, Zhimei Liu, Manting Xu et al. · Frontiers in Pharmacology · 2021 · 18 citations · Full text

, , +16

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

Hua Li, Fang Fang, Manting Xu et al. · Frontiers in Pharmacology · 2019 · 17 citations · Full text

, , +17

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