Lifeng Tian

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Lifeng Tian

Publications by authors named "Lifeng Tian"

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54Publications

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Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964).

J Pediatr 2018 Mar 18;194:248-252.e2. Epub 2017 Dec 18.

Section of Dermatology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perlman School of Medicine, Philadelphia, PA. Electronic address:

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March 2018

Bayesian analysis of genome-wide inflammatory bowel disease data sets reveals new risk loci.

Eur J Hum Genet 2018 Feb 4;26(2):265-274. Epub 2017 Dec 4.

Department of Pediatrics, Center for Applied Genomics, Devision of Human Genetics, The Children's Hospital of Philadelphia, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.

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February 2018

Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.

Hum Mutat 2017 May 10;38(5):507-510. Epub 2017 Mar 10.

The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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May 2017

Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.

J Clin Endocrinol Metab 2017 05;102(5):1726-1733

Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104.

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May 2017

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.

BMC Musculoskelet Disord 2016 11 9;17(1):462. Epub 2016 Nov 9.

Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd Ste 1216, Philadelphia, PA, 19104, USA.

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November 2016

Fresh versus Frozen Embryos for Infertility in the Polycystic Ovary Syndrome.

N Engl J Med 2016 Aug;375(6):523-33

From the Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Key Laboratory of Reproductive Endocrinology, Shandong University, Ministry of Education, and National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan (Z.-J.C., Y. Shi, D.W., J. Li, J. Yan, Y.Q., H. Zhao), Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University (Z.-J.C., Y. Sun), and Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics (Z.-J.C., Y. Sun), Shanghai, Center for Reproductive Medicine, Maternal and Child Health Hospital in Guangxi, Guangxi (B.Z.), Reproductive Medicine Center, the Sixth Affiliated Hospital of Sun Yat-sen University (X.L.) and Center for Reproductive Medicine, Sun Yat-sen Memorial Hospital, Sun Yat-sen University (D.Y.), Guangzhou, Center for Reproductive Medicine, the First Affiliated Hospital of Anhui Medical University, Hefei (Y.C.), Center for Reproductive Medicine, Wuhan University, Wuhan (J. Yang), Department of Obstetrics and Gynecology, First Affiliated Hospital of Nanjing Medical University, Nanjing (J. Liu), Reproductive Medicine Center of Jinghua Hospital, Shenyang (N.W.), Center for Reproductive Medicine, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang (L.T.), Center for Reproductive Medicine of Yantai Yuhuangding Hospital, Yantai (C.H.), Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Sir Run Run Shaw Hospital Affiliated to Zhejiang University School of Medicine, Hangzhou (F.Z.), Assisted Reproduction Center, Maternal and Child Health Care Hospital of Shanxi Province, Xi'an (J.S.), and Center for Reproduction and Genetics, Suzhou Municipal Hospital, Suzhou (Y.X.) - all in China; Department of Biostatistics, Yale University School of Public Health, New Haven, CT (H. Zhang); and Department of Obstetrics and Gynecology, Penn State College of Medicine, Hershey (R.S.L.).

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August 2016

Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.

J Clin Endocrinol Metab 2016 05 10;101(5):2196-200. Epub 2016 Mar 10.

The Center for Applied Genomics (D.L., L.T., C.H., C.E.K., H.H.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104; Department of Pediatrics (H.H., M.A.L.), University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104; and Division of Endocrinology and Diabetes and the Center for Bone Health (M.A.L.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104.

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May 2016

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

Case Rep Genet 2016 16;2016:4140780. Epub 2016 Mar 16.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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April 2016

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.

Am J Med Genet A 2015 Nov 25;167A(11):2497-502. Epub 2015 Jun 25.

Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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November 2015

Transcriptome of the human retina, retinal pigmented epithelium and choroid.

Genomics 2015 May 31;105(5-6):253-64. Epub 2015 Jan 31.

Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pa 19104, USA. Electronic address:

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May 2015

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.

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March 2015

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.

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March 2015

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

Genome Med 2013 27;5(3):28. Epub 2013 Mar 27.

Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Rd, Cold Spring Harbor, 11724, USA ; Stony Brook University, 100 Nicolls Rd, Stony Brook, 11794, USA ; Utah Foundation for Biomedical Research, E 3300 S, Salt Lake City, 84106, USA.

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May 2014

MATCHCLIP: locate precise breakpoints for copy number variation using CIGAR string by matching soft clipped reads.

Front Genet 2013 16;4:157. Epub 2013 Aug 16.

Department of Biostatistics and Epidemiology, University of Pennsylvania Perelman School of Medicine Philadelphia, PA, USA.

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August 2013

EYA1 phosphatase function is essential to drive breast cancer cell proliferation through cyclin D1.

Cancer Res 2013 Jul 1;73(14):4488-99. Epub 2013 May 1.

Department of Cancer Biology, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA19107, USA.

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July 2013

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:

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June 2013

Tumor-suppressive effects of CDK8 in endometrial cancer cells.

Cell Cycle 2013 Mar 1;12(6):987-99. Epub 2013 Mar 1.

Department of Obstetrics and Gynecology, Qilu Hospital, Shandong University, Jinan, Shandong, China.

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March 2013

Analysis of nuclear receptor acetylation.

Methods Mol Biol 2011 ;776:169-81

Department of Stem Cell Biology and Regenerative Medicine, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA 19107, USA.

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November 2011

Acetylation and nuclear receptor action.

J Steroid Biochem Mol Biol 2011 Feb 15;123(3-5):91-100. Epub 2010 Dec 15.

Department of Stem Cell Biology and Regenerative Medicine, Kimmel Cancer Center, Thomas Jefferson University, 233 S. 10th Street, Philadelphia, PA 19107, USA.

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February 2011

PACSIN 2 represses cellular migration through direct association with cyclin D1 but not its alternate splice form cyclin D1b.

Cell Cycle 2011 Jan 1;10(1):73-81. Epub 2011 Jan 1.

Department of Cancer Biology, and Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA, USA.

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January 2011

Genomic profiling of miRNAs in two human lens cell lines.

Curr Eye Res 2010 Sep;35(9):812-8

FM Kirby Center for Molecular Ophthalmology, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

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September 2010

Activating peroxisome proliferator-activated receptor gamma mutant promotes tumor growth in vivo by enhancing angiogenesis.

Cancer Res 2009 Dec;69(24):9236-44

Department of Cancer Biology, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

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December 2009

The cell fate determination factor dachshund inhibits androgen receptor signaling and prostate cancer cellular growth.

Cancer Res 2009 Apr 7;69(8):3347-55. Epub 2009 Apr 7.

Department of Cancer Biology, Kimmel Cancer Center, Thomas Jefferson University, Bluemle Life Sciences Building, Philadelphia, Pennsylvania 19107, USA.

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April 2009

Shape Signatures: speeding up computer aided drug discovery.

Drug Discov Today 2006 Oct 7;11(19-20):895-904. Epub 2006 Sep 7.

Department of Chemistry & Biochemistry, University of the Sciences in Philadelphia, Philadelphia, PA 19104, USA.

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October 2006

Ubc9 interacts with SOX4 and represses its transcriptional activity.

Biochem Biophys Res Commun 2006 Jun 17;344(3):727-34. Epub 2006 Apr 17.

National Center of Biomedical Analysis, Beijing 100850, PR China.

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June 2006

Purification and characterization of the human erythrocyte band 3 protein C-terminal domain.

Biochemistry 2004 Feb;43(6):1633-8

Departments of Pathophysiology, Harbin Medical University, Harbin 150086, China.

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February 2004

Shape signatures: a new approach to computer-aided ligand- and receptor-based drug design.

J Med Chem 2003 Dec;46(26):5674-90

Department of Chemistry & Biochemistry, University of the Sciences in Philadelphia, 600 S. 43rd Street, Philadelphia, PA 19104, USA.

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December 2003

Variant analysis and immunogenicity prediction of envelope gene of HCV strains from China.

J Med Virol 2002 Aug;67(4):490-500

Clinical Virology Research Unit, RuiJin Hospital, Shanghai Second Medical University, China.

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August 2002