M. Qi

发表

Planning the Human Variome Project: The Spain report

Toshio Kojima, John M. Hancock, Sue Povey, 2009, Human mutation.

Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome.

Michael J Ackerman, Li Zhang, Wojciech Zareba, 2006, JAMA.

Clinical Aspects of Type-1 Long-QT Syndrome by Location, Coding Type, and Biophysical Function of Mutations Involving the KCNQ1 Gene

Bba, E. Kaufman, A. Moss, 2007, Circulation.

Long-QT Syndrome After Age 40

Derick R. Peterson, E. Kaufman, S. Priori, 2008, Circulation.

Genotype-phenotype aspects of type 2 long QT syndrome.

Michael J Ackerman, Wojciech Zareba, Wataru Shimizu, 2009, Journal of the American College of Cardiology.

Clinical Course and Risk Stratification of Patients Affected with the Jervell and Lange‐Nielsen Syndrome

A. Moss, J. Towbin, W. Zareba, 2006, Journal of cardiovascular electrophysiology.

Novel loci and pathways significantly associated with longevity

Yan Wang, Xun Xu, Lars Bolund, 2016, Scientific Reports.

Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project

Mauno Vihinen, George P Patrinos, Rodney J Scott, 2009, Genetics in Medicine.

Novel Compound Heterozygous Mutations in the KCNQ1 Gene Associated with Autosomal Recessive Long QT Syndrome (Jervell and Lange‐Nielsen syndrome)

A. Moss, W. Zareba, M. Qi, 2003, Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc.

α-1-Syntrophin Mutation and the Long-QT Syndrome: A Disease of Sodium Channel Disruption

A. Moss, J. Towbin, W. Shimizu, 2008, Circulation. Arrhythmia and electrophysiology.

Application of a five-tiered scheme for standardized classification of 2 , 360 unique mismatch repair gene variants lodged on the InSiGHT locus-specific database

Christopher D. Heinen, P. Møller, L. Rasmussen, 2013 .

Mutations in Conserved Amino Acids in the KCNQ1 Channel and Risk of Cardiac Events in Type‐1 Long‐QT Syndrome

A. Moss, J. Towbin, W. Zareba, 2009, Journal of cardiovascular electrophysiology.

Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing

Rong-Rong Liu, M. Qi, Yan-hua Chen, 2017, Scientific Reports.

Whole‐exome sequencing predicted cancer epitope trees of 23 early cervical cancers in Chinese women

X. Yi, M. Qi, Yuhua Gong, 2016, Cancer medicine.

The Cancer Epitope Trees of 23 Early Cervical Cancers in Chinese Women

X. Yi, M. Qi, Yuhua Gong, 2016, bioRxiv.

LOVD–DASH: A comprehensive LOVD database coupled with diagnosis and an at‐risk assessment system for hemoglobinopathies

M. Qi, Shanhuo Yan, Yuehong Zhou, 2019, Human mutation.

An intronic mutation c.6430-3C>G in the F8 gene causes splicing efficiency and premature termination in hemophilia A

P. Yu, M. Qi, Z. Xia, 2018, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life- Threatening Events: Implications for Mutation-Specific Response to Beta- Blocker Therapy in Type-1 Long QT Syndrome Running title: Barsheshet et al.; Mutations in Cytoplasmic Loops of KCNQ1 Channel

Derick R. Peterson, E. Kaufman, A. Moss, 2012 .

Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals.

Michael J. Ackerman, Pyotr G. Platonov, Wojciech Zareba, 2011, Journal of the American College of Cardiology.

Prognostic implications of mutation-specific QTc standard deviation in congenital long QT syndrome.

E. Kaufman, A. Moss, J. Towbin, 2013, Heart rhythm.

Genetic Analysis of RET, EDNRB, and EDN3 Genes and Three SNPs in MCS + 9.7 in Chinese Patients with Isolated Hirschsprung Disease

Jicheng Li, M. Qi, Y. Qiu, 2007, Biochemical Genetics.

Long QT Syndrome in Patients over 40 Years of Age: Increased Risk for LQTS‐Related Cardiac Events in Patients with Coronary Disease

A. Moss, W. Zareba, I. Goldenberg, 2008, Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc.

A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets

P. Yu, M. Qi, C. Weng, 2015, Journal of Human Genetics.

A large deletion/insertion-induced frameshift mutation of the androgen receptor gene in a family with a familial complete androgen insensitivity syndrome.

P. Yu, M. Qi, Y. Ye, 2012, Gene.

Identification of a novel splice mutation in CTNNB1 gene in a Chinese family with both severe intellectual disability and serious visual defects

M. Qi, Yi Zhao, Hui Wang, 2019, Neurological Sciences.

De novo HBB frameshift mutation in a patient with dominant β‐thalassemia major

H. Chi, M. Qi, Juping Du, 2021, International journal of laboratory hematology.

A Chinese girl molecularly diagnosed with Alagille syndrome

M. Qi, Jie Chen, Hui Gao, 2010, World journal of pediatrics : WJP.

Disruption-1-Syntrophin Mutation and the Long-QT Syndrome : A Disease of Sodium Channel

A. Moss, J. Towbin, W. Shimizu, 2008 .

Location of Mutation in the KCNQ1 and Phenotypic Presentation of Long QT Syndrome

E. Kaufman, S. Priori, A. Moss, 2003, Journal of cardiovascular electrophysiology.

E. Kaufman, A. Moss, J. Towbin, 2012 .

Denaturing high-performance liquid chromatography quickly and reliably detects cardiac ion channel mutations in long QT syndrome.

A. Moss, M. Qi, Jennifer L. Robinson, 2003, Genetic testing.

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Colin C. Collins, Yu Deng, Leroy Hood, 1997, Nature Genetics.

AB47-4: The single nucleotide polymorphism D85N-KCNE1 is associated with both congenital and drug-induced Long QT

R. Judson, A. Moss, W. Zareba, 2006 .

Long QT syndrome and pregnancy.

E. Kaufman, S. Priori, A. Moss, 2007, Journal of the American College of Cardiology.

Polymorphisms on chromosome 9p21 confer a risk for acute coronary syndrome in a Chinese Han population.

Tao Zhang, Q. Zeng, M. Qi, 2013, The Canadian journal of cardiology.

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies

Asan, Huanming Yang, Jian Wang, 2017, EBioMedicine.

Targeted next-generation sequencing as a comprehensive test for patients with and female carriers of DMD/BMD: a multi-population diagnostic study

X. Yi, Jun Wang, L. Cui, 2013, European Journal of Human Genetics.

Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway

M. Qi, Junhui Sun, Liwei Yang, 2020, BioMed research international.

GUCY2D Gene Loss-of-Function Mutations Responsible for Leber Congenital Amaurosis 1

Y. Huo, M. Qi, F. Xue, 2019 .

Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy

P. Yu, M. Qi, Xiu-yi Li, 2011, Journal of Zhejiang University SCIENCE B.

State-of-the-Art Technologies to Interrogate Genetic/Genomic Components of Drug Response

S. Banerjee, M. Qi, 2013, Current Genetic Medicine Reports.

A recurrent PDGFRB mutation causes familial infantile myofibromatosis.

W. Chung, R. Gibbs, A. Berghuis, 2013, American journal of human genetics.

Identification of Sequence Variants in Genetic Disease-Causing Genes Using Targeted Next-Generation Sequencing

Hui Jiang, Xin Yi, Qian Zhu, 2011, PloS one.

Identification and characterization of novel compound heterozygous variants in FSHR causing primary ovarian insufficiency with resistant ovary syndrome

M. Qi, Linjie Chen, Xiaopan Chen, 2023, Frontiers in Endocrinology.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Rodney J Scott, John-Paul Plazzer, Finlay Macrae, 2013, Nature Genetics.

Familial syndrome resembling Aarskog syndrome

M. Qi, Yan Jiang, Yunsong Yu, 2010, American journal of medical genetics. Part A.

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa

Asan, X. Yi, Xiuqing Zhang, 2018, PloS one.

Preimplantational Genetic Diagnosis and Mutation Detection in a Family with Duplication Mutation of DMD Gene

P. Yu, M. Qi, Y. Ye, 2014, Gynecologic and Obstetric Investigation.

A Chinese patient with KBG syndrome and a 9q31.2-33.1 microdeletion.

M. Qi, Yunsong Yu, Mingzhi Xu, 2013, European journal of medical genetics.

Identification of A Novel SBF2 Frameshift Mutation in Charcot–Marie–Tooth Disease Type 4B2 Using Whole-exome Sequencing

Yanhua Chen, Hui Huang, Meiyan Chen, 2014, Genom. Proteom. Bioinform..

Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency

P. Yu, M. Qi, L. Yang, 2015, Clinical genetics.

[Research progress on uniparental disomy in cancer].

M. Qi, Dianyu Chen, 2019, Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences.

Gene Therapy for Rdh12-Associated Retinal Diseases Helps to Delay Retinal Degeneration and Vision Loss

M. Qi, Jian-hong An, Yuqing Cao, 2021, Drug design, development and therapy.

DDDT_A_305378 3581..3591

M. Qi, Jian-hong An, Yuqing Cao, 2021 .

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

M. Qi, Yuehong Yang, Yue Yang, 2014, Journal of Zhejiang University-SCIENCE B.

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

M. Qi, Yuehong Yang, Hui Huang, 2014, Journal of Zhejiang University-SCIENCE B.

Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome

P. Yu, M. Qi, C. Weng, 2020, Clinical and Experimental Nephrology.

A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in theTGFBI (BIGH3) gene

P. Yu, M. Qi, Yuehong Yang, 2006, Journal of Genetics.

A clinical and molecular-genetic analysis of Chinese patients with lattice corneal dystrophy and novel Thr538Pro mutation in the TGFBI (BIGH3) gene.

P. Yu, M. Qi, Yuehong Yang, 2006, Journal of genetics.

Risk of fatal arrhythmic events in long QT syndrome patients after syncope.

A. Moss, W. Zareba, I. Goldenberg, 2010, Journal of the American College of Cardiology.

Long QT syndrome in adults.

Andrew J. Sauer, E. Kaufman, S. Priori, 2007, Journal of the American College of Cardiology.

Risk of Syncope in Family Members Who Are Genotype-Negative for a Family-Associated Long-QT Syndrome Mutation

E. Kaufman, A. Moss, J. Towbin, 2011, Circulation. Cardiovascular genetics.

Risk factors for recurrent syncope and subsequent fatal or near-fatal events in children and adolescents with long QT syndrome.

Derick R. Peterson, E. Kaufman, S. Priori, 2011, Journal of the American College of Cardiology.

Mutation-specific risk in two genetic forms of type 3 long QT syndrome.

A. Moss, P. Schwartz, W. Zareba, 2010, The American journal of cardiology.

Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy.

E. Kaufman, S. Priori, A. Moss, 2009, Journal of the American College of Cardiology.

Risk Factors for Aborted Cardiac Arrest and Sudden Cardiac Death in Children With the Congenital Long-QT Syndrome

Derick R. Peterson, E. Kaufman, S. Priori, 2008, Circulation.

Mutations in Cytoplasmic Loops of the KCNQ1 Channel and the Risk of Life-Threatening Events: Implications for Mutation-Specific Response to &bgr;-Blocker Therapy in Type 1 Long-QT Syndrome

E. Kaufman, A. Moss, J. Towbin, 2012, Circulation.

Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.

P. Yu, M. Qi, Xinwen Huang, 2015, Clinica chimica acta; international journal of clinical chemistry.

The R900S mutation in CACNA1S associated with hypokalemic periodic paralysis

X. Yi, P. Yu, M. Qi, 2015, Neuromuscular Disorders.

Development of a comprehensive real-time PCR assay for dystrophin gene analysis and prenatal diagnosis of Chinese families.

M. Qi, Jiansheng Xie, Yuchan Mao, 2013, Clinica chimica acta; international journal of clinical chemistry.

Pharmacogenetics, pharmacogenomics and ecogenetics

A. Motulsky, M. Qi, 2006, Journal of Zhejiang University SCIENCE B.

Recommendations for Genetic Variation Data Capture in Developing Countries to Ensure a Comprehensive Worldwide Data Collection

George P Patrinos, Finlay Macrae, G. Patrinos, 2010, Human mutation.

Risk of cardiac events in patients with asthma and long-QT syndrome treated with beta(2) agonists.

E. Kaufman, A. Moss, W. Zareba, 2008, The American journal of cardiology.

Safety and Efficacy of Flecainide in Subjects with Long QT‐3 Syndrome (ΔKPQ Mutation): A Randomized, Double‐Blind, Placebo‐Controlled Clinical Trial

A. Moss, W. Zareba, J. Daubert, 2005, Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc.

Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study.

Jørgen K. Kanters, E. Kaufman, A. Moss, 2016, Circulation.

p.Ala546 > Asp and p.Arg555 > Trp mutations of TGFBI gene and their clinical manifestations in two large Chinese families with granular corneal dystrophy type I.

P. Yu, M. Qi, Yuehong Yang, 2008, Genetic Testing.

Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population

Tao Zhang, Ying Yuan, Peter Hu, 2011, Human mutation.

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis

Renhua Wu, Yanhua Chen, Xin Yi, 2012, Nature Genetics.

Mitochondrion and its related disorders: Making a comeback

M. Qi, Xian-ning Zhang, 2008, Journal of Zhejiang University SCIENCE B.

A novel SPECC1L mutation causing Teebi hypertelorism syndrome: Expanding phenotypic and genetic spectrum.

M. Qi, Qian Wu, Rulai Yang, 2020, European journal of medical genetics.