Publications

Microfluidic Chemical Function Generator for Probing Dynamic Cell Signaling.
Anal Chem 2017 Sep 22;89(17):9209-9217. Epub 2017 Aug 22.
The Key Laboratory for Biomedical Photonics of MOE at Wuhan National Laboratory for Optoelectronics-Hubei Bioinformatics & Molecular Imaging Key Laboratory, Systems Biology Theme, Department of Biomedical Engineering, College of Life Science and Technology, Huazhong University of Science and Technology , Wuhan 430074, China.



Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder.
JIMD Rep 2017 26;32:117-124. Epub 2016 Jun 26.
Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children's Hospital at Westmead, Locked Bag 4001, Sydney, NSW, 2145, Australia.




CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.
Brain 2016 Jun 5;139(Pt 6):1666-72. Epub 2016 May 5.
2 Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, 02114, USA 10 Program in Medical and Population Genetics, Broad Institute, Cambridge, 02142, MA, USA 12 Department of Anaesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, 02114, USA.

Bioactivity-guided isolation of antioxidant and anti-hepatocarcinoma constituents from Veronica ciliata.
Chem Cent J 2016 3;10:27. Epub 2016 May 3.
College of Life Sciences, Sichuan University, Key Laboratory of Bio-resources and Eco-environment, Ministry of Education, No.24 South Sect. 1, Yihuan Road, Chengdu, People's Republic of China ; National and Local Joint Engineering Laboratory for Energy Plant Bio-oil Production and Application, Chengdu, Sichuan China.


Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.
Hum Genomics 2016 Jan 18;10. Epub 2016 Jan 18.
Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA.

Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis.
Ophthalmic Genet 2015 19;36(4):333-8. Epub 2014 Feb 19.
b Eye and Developmental Genetics Research Group, Western Sydney Genetics Program, The Children's Hospital at Westmead , Sydney , NSW , Australia .

Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children.
Sci Rep 2015 Dec 21;5:18792. Epub 2015 Dec 21.
The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.
Hum Genomics 2015 Nov 11;9:31. Epub 2015 Nov 11.
Center for Applied Genomics, The Children's Hospital of Philadelphia, 1014H, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA.


Genetic meta-analysis of 15,901 African Americans identifies variation in EXOC3L1 is associated with HDL concentration.
J Lipid Res 2015 Sep 21;56(9):1781-6. Epub 2015 Jul 21.
Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA Division of Transplantation, Department of Surgery, University of Pennsylvania, Philadelphia, PA.



Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Hum Mol Genet 2015 Apr 2;24(8):2297-307. Epub 2015 Jan 2.
Genetic Metabolic Disorders Research Unit, Discipline of Paediatrics and Child Health and Discipline of Genetic Medicine, University of Sydney, Sydney, NSW 2006, Australia,


Genome-wide association study of serum minerals levels in children of different ethnic background.
PLoS One 2015 17;10(4):e0123499. Epub 2015 Apr 17.
The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.

Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
Clin Exp Ophthalmol 2015 Mar 2;43(2):132-8. Epub 2014 Oct 2.
Eye and Developmental Genetics Research Group, The Children's Hospital at Westmead, Sydney, New South Wales, Australia; Eye Genetics Group, Children's Medical Research Institute, Sydney, New South Wales, Australia.

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.
Neuromuscul Disord 2015 Mar 10;25(3):257-61. Epub 2014 Dec 10.
BGI-Shenzhen, Shenzhen 518083, China; The Guangdong Enterprise Key Laboratory of Human Disease Genomics, BGI-Shenzhen, Shenzhen, China.

Phenolic composition and effects on allergic contact dermatitis of phenolic extracts Sapium sebiferum (L.) Roxb. leaves.
J Ethnopharmacol 2015 Mar 7;162:176-80. Epub 2015 Jan 7.
College of Life Sciences, Sichuan University, National and Local Joint Engineering Laboratory for Energy Plant Bio-oil Production and Application, Key Laboratory of Bio-resource and Eco-environment, Ministry of Education, Chengdu, PR China. Electronic address:


HMG-coenzyme A reductase inhibition, type 2 diabetes, and bodyweight: evidence from genetic analysis and randomised trials.
Lancet 2015 Jan 24;385(9965):351-61. Epub 2014 Sep 24.
BHF Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow, UK.



Digital gene expression analysis of the pathogenesis and therapeutic mechanisms of ligustrazine and puerarin in rat atherosclerosis.
Gene 2014 Nov 9;552(1):75-80. Epub 2014 Sep 9.
College of Life Sciences, Sichuan University, National and Local Joint Engineering Laboratory for Energy Plant Bio-oil Production and Application, Key Laboratory of Bio-resource and Eco-environment, Ministry of Education, Chengdu, PR China. Electronic address:





Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data.
BMJ 2014 Jul 10;349:g4164. Epub 2014 Jul 10.
Genetic Epidemiology Group, Institute of Cardiovascular Science, Department of Epidemiology and Public Health, University College London, UK Faculty of Epidemiology and Population Health, London School of Hygiene & Tropical Medicine, London, WC1E 7HT, UK

Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations.
Hum Mol Genet 2014 May 17;23(9):2498-510. Epub 2013 Dec 17.
Gillings School of Global Public Health.

Causal effects of body mass index on cardiometabolic traits and events: a Mendelian randomization analysis.
Am J Hum Genet 2014 Feb 23;94(2):198-208. Epub 2014 Jan 23.
Division of Transplantation, Department of Surgery, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, USA; Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, USA. Electronic address:

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
Am J Hum Genet 2013 Jun 23;92(6):1001-7. Epub 2013 May 23.
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA. Electronic address:

GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
Hum Mol Genet 2013 Apr 20;22(7):1457-64. Epub 2012 Dec 20.
Center for Applied Genomics, Abramson Research Center and Division of Human Genetics, The Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Loci influencing blood pressure identified using a cardiovascular gene-centric array.
Hum Mol Genet 2013 Apr 8;22(8):1663-78. Epub 2013 Jan 8.
Division of Cardiovascular Medicine, University of Michigan Health System, Ann Arbor, MI, USA.


Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.
Am J Hum Genet 2012 Nov 11;91(5):823-38. Epub 2012 Oct 11.
Department of Cardiology, Division of Heart and Lungs, University Medical Center Utrecht, Utrecht, The Netherlands.

Metabolic profiling assisted quality control of phorbolesters in Jatropha curcas seed by high-performance liquid chromatography using a fused-core column.
J Agric Food Chem 2012 Sep 14;60(38):9567-72. Epub 2012 Sep 14.
Key Laboratory of Biological Resource and Ecological Environment, Ministry of Education, College of Life Science, Sichuan University , No. 24 South Section 1, First Ring Road, Chengdu 610064, People's Republic of China.


Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.
Am J Hum Genet 2012 Mar 9;90(3):410-25. Epub 2012 Feb 9.
Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA.

The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.
Lancet 2012 Mar 14;379(9822):1214-24. Epub 2012 Mar 14.


Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.
Am J Hum Genet 2011 Jan 30;88(1):6-18. Epub 2010 Dec 30.
Department of Medicine and Biochemistry, University of Western Ontario, London, Ontario, N6A 5C1, Canada.


The sequence and de novo assembly of the giant panda genome.
Nature 2010 Jan 13;463(7279):311-7. Epub 2009 Dec 13.
BGI-Shenzhen, Shenzhen 518083, China.




TreeFam: 2008 Update.
Nucleic Acids Res 2008 Jan 1;36(Database issue):D735-40. Epub 2007 Dec 1.
Beijing Institute of Genomics of the Chinese Academy of Sciences, Beijing Genomics Institute, Beijing 101300, China.

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