Lisong Shi

发表

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

Brian T. Naughton, Jason R. Bobe, H. Hakonarson, 2016, Nature Biotechnology.

Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion

Wahab A. Khan, R. Sebra, E. Jabs, 2018, npj Genomic Medicine.

Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population

Dan Wang, Xin Tu, Lisong Shi, 2009, Human Genetics.

Novel mutations in EVC cause aberrant splicing in Ellis–van Creveld syndrome

Chunyan Luo, Mairaj K. Ahmed, Lisong Shi, 2016, Molecular Genetics and Genomics.

A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis

E. Jabs, M. Fan, Z. Bian, 2006, Human Genetics.

A new congenital nuclear cataract caused by a missense mutation in the gammaD-crystallin gene (CRYGD) in a Chinese family.

Yanhua Qi, Shangzhi Huang, Hui Lin, 2005, Molecular vision.

Lessons learned from expanded reproductive carrier screening in self‐reported Ashkenazi, Sephardi, and Mizrahi Jewish patients

Mitchell W Dillon, E. Schadt, L. Edelmann, 2019, Molecular genetics & genomic medicine.

Identification of rare variants in TNNI3 with atrial fibrillation in a Chinese GeneID population

X. Tu, Qiuyun Chen, Chengqi Xu, 2016, Molecular Genetics and Genomics.

Further evidence of genetic heterogeneity segregating with hereditary gingival fibromatosis.

W. Yin, Z. Bian, Q. Wang, 2009, Journal of clinical periodontology.

Novel mutations in EVC cause aberrant splicing in Ellis–van Creveld syndrome

Chunyan Luo, Mairaj K. Ahmed, Lisong Shi, 2016, Molecular Genetics and Genomics.

Mutations in the EDA gene are responsible for X-linked hypohidrotic ectodermal dysplasia and hypodontia in Chinese kindreds.

W. Yin, Z. Bian, Lisong Shi, 2008, European journal of oral sciences.

A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

Alexander F. Wilson, A. F. Wilson, J. Richtsmeier, 2012, Nature Genetics.

A genome wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP 2 and within BBS 9

Alexander F. Wilson, A. F. Wilson, J. Richtsmeier, 2012 .

Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family

L. Edelmann, T. Haaf, R. Maroofian, 2017, Molecular Syndromology.

Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome.

Z. Bian, M. Fan, Lisong Shi, 2005, International journal of molecular medicine.

Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion

Wahab A. Khan, R. Sebra, E. Jabs, 2018, npj Genomic Medicine.

The Same Chromosome 9p21.3 Locus Is Associated With Type 2 Diabetes and Coronary Artery Disease in a Chinese Han Population

Baofeng Yang, Fan Wang, X. Tu, 2011, Diabetes.

Genome-wide association identifies a susceptibility locus for coronary artery disease in the Chinese Han population

Qing Yang, Mugen Liu, Fan Wang, 2011, Nature Genetics.

Robust identification of mosaic variants in congenital heart disease

K. B. Manheimer, W. Chung, J. Seidman, 2018, Human Genetics.

Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints

S. Scott, L. Edelmann, S. Amr, 2019, Molecular genetics & genomic medicine.

Slow Cardiac Myosin Regulatory Light Chain 2 (MYL2) was Down‐Expressed in Chronic Heart Failure Patients

Q. Tang, X. Tu, Hong Jiang, 2011, Clinical cardiology.

CADgene: a comprehensive database for coronary artery disease genes

Hui Liu, Qian Liu, Long Cheng, 2010, Nucleic Acids Res..

Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection.

M. R. Botton, R. Desnick, S. Scott, 2019, Pharmacogenomics.

An Integrative Pipeline for Multi-Modal Discovery of Disease Relationships

Li Li, Rong Chen, Benjamin S. Glicksberg, 2014, Pacific Symposium on Biocomputing.

Identification of NPPA variants associated with atrial fibrillation in a Chinese GeneID population.

Mugen Liu, Fan Wang, X. Tu, 2010, Clinica chimica acta; international journal of clinical chemistry.

Significant association of SNP rs2106261 in the ZFHX3 gene with atrial fibrillation in a Chinese Han GeneID population

Mugen Liu, Fan Wang, X. Tu, 2011, Human Genetics.

Robust identification of mosaic variants in congenital heart disease

K. B. Manheimer, J. Seidman, Yufeng Shen, 2018, Human Genetics.

Minor Allele C of Chromosome 1p32 Single Nucleotide Polymorphism rs11206510 Confers Risk of Ischemic Stroke in the Chinese Han Population

Cong Li, Fan Wang, X. Tu, 2010, Stroke.

A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype

B. Gelb, L. Edelmann, M. Tartaglia, 2014, American journal of medical genetics. Part A.

Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population.

Qinbo Yang, X. Tu, Qiuyun Chen, 2010, Biochemical and biophysical research communications.

Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi‐Ethnic Allele and Copy Number Variant Detection

Erick R. Scott, E. Schadt, M. R. Botton, 2020, Clinical and translational science.

Real-world genetic screening with molecular ancestry supports comprehensive pan-ethnic carrier screening

Schadt, L. Edelmann, B. Webb, 2022, medRxiv.

Identification of rare variants in TNNI3 with atrial fibrillation in a Chinese GeneID population

X. Tu, Qiuyun Chen, Chengqi Xu, 2015, Molecular Genetics and Genomics.

Slow Cardiac Myosin Regulatory Light Chain 2 (MYL2) was Down‐Expressed in Chronic Heart Failure Patients

Q. Tang, X. Tu, Hong Jiang, 2011, Clinical cardiology.