Publications

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
EBioMedicine 2017 Sep 17;23:150-159. Epub 2017 Aug 17.
Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China; Guangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases, Guangzhou, Guangdong, China; Guangdong Key Laboratory of Biological Chip, Guangzhou, Guangdong, China. Electronic address:

The Tartary Buckwheat Genome Provides Insights into Rutin Biosynthesis and Abiotic Stress Tolerance.
Mol Plant 2017 Sep 1;10(9):1224-1237. Epub 2017 Sep 1.
Institute of Crop Germplasm Resources Research, Shanxi Academy of Agricultural Sciences, Taiyuan 030031, China; Key Laboratory of Crop Gene Resources and Germplasm Enhancement on Loess Plateau, Ministry of Agriculture, Taiyuan 030031, China; Shanxi Key Laboratory of Genetic Resources and Genetic Improvement of Minor Crops, Taiyuan 030031, China. Electronic address:

Fibroblast Activation Protein α Activated Tripeptide Bufadienolide Antitumor Prodrug with Reduced Cardiotoxicity.
J Med Chem 2017 Jul 22;60(13):5320-5333. Epub 2017 Jun 22.
Guangdong Province Key Laboratory of Pharmacodynamic Constituents of TCM and New Drugs Research, College of Pharmacy, Jinan University , Guangzhou 510632, P. R. China.

Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment.
World J Pediatr 2017 Jun 17;13(3):197-201. Epub 2017 May 17.
Department of Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.


Sequencing and de novo assembly of a near complete indica rice genome.
Nat Commun 2017 May 4;8:15324. Epub 2017 May 4.
State Key Laboratory of Plant Genomics, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, 1 Beichen West Road No. 2, Beijing 100101, China.

Three novel mutations of ARG1 identified in Chinese patients with argininemia detected by newborn screening.
Clin Chim Acta 2017 Mar 12;466:68-71. Epub 2017 Jan 12.
Department of Cell Biology and Medical Genetics, School of Medicine Zhejiang University, 588 Yuhangtang Road, Hangzhou 310058, China; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Ave, Rochester, NY 14642, USA; Center for Genetic and Genomic Medicine, James Watson Institute of Genome Sciences, School of Medicine Zhejiang University, 588 Yuhangtang Road, Hangzhou 310058, China. Electronic address:


Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study.
Circulation 2016 Sep 26;134(12):872-82. Epub 2016 Aug 26.
From AMC Heart Centre, Department of Clinical and Experimental Cardiology (A.A.M.W., C.R.B.) and Department of Clinical Genetics (N.H., M.A.), Academic Medical Center, Amsterdam, The Netherlands; Cardiology Division of the Department of Medicine (A.J.M., C.L., W.Z., I.G., J.L.R., M.L.A., S.M., B.P.), the Department of Biostatistics (D.R.P.), and the Department of Pathology (M.Q.), University of Rochester School of Medicine and Dentistry, Rochester, NY; Heart and Vascular Research Center, MetroHealth Campus of Case Western Reserve University, Cleveland, OH (E.S.K.); Department of Cardiovascular Medicine, Graduate School of Medicine, Nippon Medical School, Tokyo, Japan (W.S.); Department of Cardiology Bikur Cholim Hospital, Jerusalem, Israel (J.B.); Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH (J.A.T.); IRCCS Istituto Auxologico Italiano, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy (C.P. L.C., P.J.S.); Department of Cardiology, Gentofte University Hospital, Copenhagen, Denmark (J.K.K.); Departments of Medicine, Pediatrics, and Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN (D.J.T., M.J.A.); Division of Arrhythmia and Electrophysiology, Department of Cardiovascular Medicine (W.S.) and Department of Preventive Cardiology (Y.M.), National Cerebral and Cardiovascular Center, Suita, Japan; Department of Molecular Medicine, University of Pavia, Italy (L.C.); Princess Al-Jawhara Al-Brahim Centre of Excellence in Research of Hereditary Disorders, Jeddah, Kingdom of Saudi Arabia (A.A.M.W.); and Department of Cardiovascular, Neural and Metabolic Sciences, San Luca Hospital IRCCS Istituto Auxologico Italiano, Milan, Italy (L.C., P.J.S.).

The Comparisons of Cerebral Hemodynamics Induced by Obstructive Sleep Apnea with Arousal and Periodic Limb Movement with Arousal: A Pilot NIRS Study.
Front Neurosci 2016 31;10:403. Epub 2016 Aug 31.
Center for Sleep Medicine and Sleep Research, Clinic BarmelweidBarmelweid, Switzerland; Bern Network for Epilepsy, Sleep and Consciousness (BENESCO), Department of Neurology, University Hospital Bern, University of BernBern, Switzerland.

China's shift from population control to population quality: Implications for neurology.
Neurology 2016 Aug;87(8):e85-8
From the Department of Neurology, the First Affiliated Hospital (Q.K.), Department of Child Health Care, The Children's Hospital (Z.Z.), and Center for Genetic & Genomic Medicine (M.Q.), Zhejiang University School of Medicine; Department of Rehabilitation Medicine (L.Z.), Zhejiang Provincial People's Hospital; Family Planning Publicity and Technical Guidance Station of Hangzhou City (C.H.), Hangzhou, China; and the Department of Neurology (R.C.G., M.A.G.), University of Rochester School of Medicine and Dentistry, NY.

Daratumumab, Bortezomib, and Dexamethasone for Multiple Myeloma.
N Engl J Med 2016 Aug;375(8):754-66
From the Department of Hematology, University of Turin, Turin, Italy (A.P.); the Division of Hematology and Medical Oncology, Mayo Clinic Florida, Jacksonville (A.C.-K.); Universitaetsklinikum Tuebingen der Eberhard-Karls-Universitaet, Abteilung fuer Innere Medizin II, Tuebingen (K.W.), and University Medical Center of the Johannes Gutenberg-University, Third Department of Medicine, Mainz (M.M.) - both in Germany; Winship Cancer Institute, Emory University, Atlanta (A.K.N.); the Department of Hematology and Stem Cell Transplantation, St. László Hospital, Semmelweis University, Budapest, Hungary (T.M.); Ankara University, Department of Hematology, Ankara, Turkey (M.B.); Clinical Department of Hematology, 1st Medical Department, Charles University in Prague, Prague, Czech Republic (I.S.); Irmandade Da Santa Casa De Misericordia De São Paulo, São Paulo (V.H.); University Hospital of Salamanca-Instituto de Investigación Biomédica de Salamanca, Salamanca, Spain (M.V.M.); Weill Cornell Medical College, New York (T.M.M.); Janssen Research and Development, Spring House, PA (M.Q., X.Q., T.A.); Janssen Research and Development, Raritan, NJ (J.S., H.A.); Janssen Research and Development, Beerse, Belgium (W.D.); Malignant Haematology and Stem Cell Transplantation Service, Alfred Health-Monash University, Melbourne, VIC, Australia (A.S.); and the Department of Hematology, Erasmus MC, Rotterdam, the Netherlands (P.S.).





Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients.
Clin Chim Acta 2015 Jan 30;438:323-9. Epub 2014 Aug 30.
Department of Cell Biology and Medical Genetics, Research Building A 713, School of Medicine, Zhejiang University, Yuhangtang Road 866, Hangzhou, China; Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, 601 Elmwood Avenue, Rochester, NY, USA. Electronic address:

Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing.
Genomics Proteomics Bioinformatics 2014 Oct 28;12(5):221-7. Epub 2014 Oct 28.
BGI-Shenzhen, Shenzhen, Guangdong 518083, China; Center for Genetic and Genomic Medicine, Zhejiang University School of Medicine, First Affiliated Hospital and James D. Watson Institute of Genome Sciences, Hangzhou 310006, China; Department of Pathology, University of Rochester Medical Center, Rochester, NY 14642, USA. Electronic address:

Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing.
J Zhejiang Univ Sci B 2014 Aug;15(8):727-34
Department of Ophthalmology, the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China; Beijing Genomics Institute (BGI)-Shenzhen, Shenzhen 518083, China; School of Basic Medical Sciences, Zhejiang University, Hangzhou 310058, China; Functional Genomics Center, Department of Pathology & Laboratory Medicine, University of Rochester Medical Center, West Henrietta, NY 14586, USA.



Evaluation of the QTc prolongation potential of a monoclonal antibody, siltuximab, in patients with monoclonal gammopathy of undetermined significance, smoldering multiple myeloma, or low-volume multiple myeloma.
Cancer Chemother Pharmacol 2014 Jan 23;73(1):35-42. Epub 2013 Oct 23.
Division of Cancer Medicine, Department of Lymphoma/Myeloma, The University of Texas M. D. Anderson Cancer Center, 1515 Holcombe Blvd., Unit 0429, Houston, TX, 77030, USA,


A phase 1 study of a chimeric monoclonal antibody against interleukin-6, siltuximab, combined with docetaxel in patients with metastatic castration-resistant prostate cancer.
Invest New Drugs 2013 Jun 25;31(3):669-76. Epub 2012 Jul 25.
Genitourinary Malignancies Program, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, 19111, USA.










Siltuximab, a novel anti-interleukin-6 monoclonal antibody, for Castleman's disease.
J Clin Oncol 2010 Aug 12;28(23):3701-8. Epub 2010 Jul 12.
Myeloma Institute for Research and Therapy, University of Arkansas for Medical Sciences, 4301 West Markham, Little Rock, AR 72205, USA.


Caffeic acid phenethyl ester, an active component of honeybee propolis attenuates osteoclastogenesis and bone resorption via the suppression of RANKL-induced NF-kappaB and NFAT activity.
J Cell Physiol 2009 Dec;221(3):642-9
Molecular Orthopaedic Laboratory, Centre for Orthopaedic Research, School of Surgery, The University of Western Australia, Nedlands, Western Australia, Australia.



Proteasome inhibitors impair RANKL-induced NF-kappaB activity in osteoclast-like cells via disruption of p62, TRAF6, CYLD, and IkappaBalpha signaling cascades.
J Cell Physiol 2009 Aug;220(2):450-9
Molecular Orthopaedic Laboratory, Centre for Orthopaedic Research, School of Surgery, The University of Western Australia, Nedlands, Western Australia, Australia.

Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.
J Cardiovasc Electrophysiol 2009 Aug 13;20(8):859-65. Epub 2009 Mar 13.
Cardiology Division, Department of Medicine, University of Rochester Medical Center, Rochester, New York, USA.


Planning the human variome project: the Spain report.
Hum Mutat 2009 Apr;30(4):496-510
Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.
Circ Arrhythm Electrophysiol 2008 Aug;1(3):193-201
Electrophysiology Research Laboratory, Texas Heart Institute/St. Luke's Episcopal Hospital, Houston, Texas, USA.

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