Xing Ji

1665 Kongjiang Road
Shanghai, 200092, China

Last Updated: 09/26/2026

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Found 36 publications

Development and validation of a one-step SMN assay for genetic testing in spinal muscular atrophy via MALDI-TOF MS.

Development and validation of a one-step SMN assay for genetic testing in spinal muscular atrophy via MALDI-TOF MS.

Journal: The Analyst

Published: November 25, 2024

Strategic Integration: A Cross-Disciplinary Review of the fNIRS-EEG Dual-Modality Imaging System for Delivering Multimodal Neuroimaging to Applications.

Strategic Integration: A Cross-Disciplinary Review of the fNIRS-EEG Dual-Modality Imaging System for Delivering Multimodal Neuroimaging to Applications.

Journal: Brain sciences

Published: August 20, 2024

Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.

Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.

Journal: Molecular genetics and genomics : MGG

Published: April 09, 2021

Erratum to "Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR" [Neuromuscular Disorders, 30(3) 2020, 219-226].

Erratum to "Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR" [Neuromuscular Disorders, 30(3) 2020, 219-226].

Journal: Neuromuscular disorders : NMD

Published: December 05, 2020

Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients.

Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients.

Journal: Frontiers in genetics

Published: March 17, 2020

L ARP7 Is a BRCA1 Ubiquitinase Substrate and Regulates Genome Stability and Tumorigenesis.

L ARP7 Is a BRCA1 Ubiquitinase Substrate and Regulates Genome Stability and Tumorigenesis.

Journal: Cell reports

Published: August 22, 2019

Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing

Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: July 15, 2019

A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth.

A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth.

Journal: Molecular syndromology

Published: May 22, 2019

Genotypic and phenotypic analysis of a patient with de novo partial monosomy 18p and partial trisomy 18q

Genotypic and phenotypic analysis of a patient with de novo partial monosomy 18p and partial trisomy 18q

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: April 29, 2019

Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR.

Identification of novel SMN1 subtle mutations using an allelic-specific RT-PCR.

Journal: Neuromuscular disorders : NMD

Published: February 15, 2019

Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.

Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.

Journal: Prenatal diagnosis

Published: December 04, 2018

Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests.

Identifying occult maternal malignancies from 1.93 million pregnant women undergoing noninvasive prenatal screening tests.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 26, 2018

Showing 1-12 of 36

Last Updated: 09/26/2026