Ruifang Sui

Ruifang Sui

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Ruifang Sui

Publications by authors named "Ruifang Sui"

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55Publications

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Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1.

J Clin Immunol 2020 Feb 14;40(2):350-358. Epub 2020 Jan 14.

Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.

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http://dx.doi.org/10.1007/s10875-020-00741-6DOI Listing
February 2020

CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA.

Retina 2020 Jan 7. Epub 2020 Jan 7.

Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

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http://dx.doi.org/10.1097/IAE.0000000000002743DOI Listing
January 2020

Unilateral retinocytoma associated with a variant in the RB1 gene.

Mol Genet Genomic Med 2020 Jan 29:e1156. Epub 2020 Jan 29.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.

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http://dx.doi.org/10.1002/mgg3.1156DOI Listing
January 2020

PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.

Retina 2019 Oct;39(10):2040-2052

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

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http://dx.doi.org/10.1097/IAE.0000000000002242DOI Listing
October 2019

mutations cause high myopia.

J Med Genet 2019 10 12;56(10):671-677. Epub 2019 Jun 12.

Graduate School of Peking Union Medical College, Beijing, China

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http://dx.doi.org/10.1136/jmedgenet-2018-105684DOI Listing
October 2019

A novel porcine model reproduces human oculocutaneous albinism type II.

Cell Discov 2019 8;5:48. Epub 2019 Oct 8.

1State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, 100101 Beijing, China.

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http://dx.doi.org/10.1038/s41421-019-0117-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796836PMC
October 2019

Ocular Features in Chinese Patients with Blau Syndrome.

Ocul Immunol Inflamm 2020 26;28(1):79-85. Epub 2019 Feb 26.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

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http://dx.doi.org/10.1080/09273948.2019.1569239DOI Listing
February 2019

Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.

BMC Med Genet 2019 01 14;20(1):14. Epub 2019 Jan 14.

Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.

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http://dx.doi.org/10.1186/s12881-018-0725-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332535PMC
January 2019

Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.

Hum Mol Genet 2018 12;27(23):4157-4168

Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.

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http://dx.doi.org/10.1093/hmg/ddy281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240732PMC
December 2018

Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.

Ophthalmic Genet 2018 10 28;39(5):569-576. Epub 2018 Jun 28.

a Department of Ophthalmology , Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences , Beijing , China.

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http://dx.doi.org/10.1080/13816810.2018.1466337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6239416PMC
October 2018

Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.

Mol Vis 2017 24;23:977-986. Epub 2017 Dec 24.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5757854PMC
May 2018

A novel small deletion in the NHS gene associated with Nance-Horan syndrome.

Sci Rep 2018 02 5;8(1):2398. Epub 2018 Feb 5.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, 100730, China.

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http://dx.doi.org/10.1038/s41598-018-20787-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5799206PMC
February 2018

A heterozygous mutation in RPGR associated with X-linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX).

Am J Med Genet A 2018 01 14;176(1):214-218. Epub 2017 Nov 14.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.

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http://dx.doi.org/10.1002/ajmg.a.38501DOI Listing
January 2018

Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients.

Exp Eye Res 2017 11 31;164:64-73. Epub 2017 Jul 31.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China. Electronic address:

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http://dx.doi.org/10.1016/j.exer.2017.07.016DOI Listing
November 2017

The phenotypic variability of HK1-associated retinal dystrophy.

Sci Rep 2017 08 1;7(1):7051. Epub 2017 Aug 1.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/s41598-017-07629-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5539152PMC
August 2017

IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.

Invest Ophthalmol Vis Sci 2017 05;58(5):2483-2490

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States 2Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States 4Department of Structural and Computational Biology & Molecular Biophysics, Baylor College of Medicine, Houston, Texas, United States 5Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, Texas, United States 6Program of Developmental Biology, Baylor College of Medicine, Houston, Texas, United States.

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http://dx.doi.org/10.1167/iovs.16-19133DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413215PMC
May 2017

is mutated in a distinct type of Usher syndrome.

J Med Genet 2017 03 14;54(3):190-195. Epub 2016 Sep 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1136/jmedgenet-2016-104166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6235689PMC
March 2017

Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism.

Sci Rep 2017 02 17;7:33713. Epub 2017 Feb 17.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.

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http://dx.doi.org/10.1038/srep33713DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5314354PMC
February 2017

Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing.

J Mol Diagn 2016 11 10;18(6):817-824. Epub 2016 Sep 10.

Department of Molecular and Human Genetics, Cullen Eye Institute, Baylor College of Medicine, Houston, Texas. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.06.007DOI Listing
November 2016

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

Hum Mol Genet 2016 Apr 28;25(8):1479-88. Epub 2016 Jan 28.

Department of Molecular and Human Genetics, Human Genome Sequencing Center, Structural and Computational Biology and Molecular Biophysics Graduate Program, The Verna and Marrs Mclean Department of Biochemistry and Molecular Biology and Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA,

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http://dx.doi.org/10.1093/hmg/ddw022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805308PMC
April 2016

Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.

Sci Rep 2016 Feb 9;6:21384. Epub 2016 Feb 9.

The Key Laboratory of Plant Resources and Chemistry of Arid Zone, Xinjiang Technical Institute of Physics and Chemistry, Chinese Academy of Sciences, Urumqi, Xinjiang, China 830011.

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http://dx.doi.org/10.1038/srep21384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746660PMC
February 2016

Mutations in human IFT140 cause non-syndromic retinal degeneration.

Hum Genet 2015 Oct 28;134(10):1069-78. Epub 2015 Jul 28.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1007/s00439-015-1586-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4565766PMC
October 2015

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

Orphanet J Rare Dis 2015 Sep 4;10:110. Epub 2015 Sep 4.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, 1 Shuai Fu Yuan, Beijing, 10073, China.

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http://www.ojrd.com/content/10/1/110
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http://dx.doi.org/10.1186/s13023-015-0329-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559966PMC
September 2015

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

Invest Ophthalmol Vis Sci 2015 Jun;56(6):3642-55

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Dongcheng, Beijing, China.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.14-15972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466882PMC
June 2015

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.

Genet Med 2015 Apr 4;17(4):262-70. Epub 2014 Dec 4.

1] Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA [2] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA [3] Structural and Computational Biology and Molecular Biophysics Graduate Program, Baylor College of Medicine, Houston, Texas, USA [4] Program in Developmental Biology, Baylor College of Medicine, Houston, Texas, USA.

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http://www.nature.com/articles/gim2014174
Publisher Site
http://dx.doi.org/10.1038/gim.2014.174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385427PMC
April 2015

Novel CNGA3 mutations in Chinese patients with achromatopsia.

Br J Ophthalmol 2015 Apr 30;99(4):571-6. Epub 2015 Jan 30.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.

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http://dx.doi.org/10.1136/bjophthalmol-2014-305432DOI Listing
April 2015

De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients.

Ophthalmic Genet 2015 Mar 3;36(1):21-6. Epub 2013 Sep 3.

Department of Ophthalmology and.

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http://dx.doi.org/10.3109/13816810.2013.827219DOI Listing
March 2015

RDH5 retinopathy (fundus albipunctatus) with preserved rod function.

Retina 2015 Mar;35(3):582-9

Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

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http://dx.doi.org/10.1097/IAE.0000000000000319DOI Listing
March 2015

A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.

Invest Ophthalmol Vis Sci 2014 Dec 4;56(1):150-5. Epub 2014 Dec 4.

Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, United States Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States Structural and Computational Biology and Molecular Biophysics Graduate Program, Houston, Texas, United States.

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http://dx.doi.org/10.1167/iovs.14-15382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4290556PMC
December 2014

Novel mutation in FBN1 causes ectopia lentis and varicose great saphenous vein in one Chinese autosomal dominant family.

Mol Vis 2014 12;20:812-21. Epub 2014 Jun 12.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4057249PMC
September 2014

Novel ALMS1 mutations in Chinese patients with Alström syndrome.

Mol Vis 2013 7;19:1885-91. Epub 2013 Sep 7.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774572PMC
March 2014

Phenotypic characterization of a Chinese family with autosomal dominant cone-rod dystrophy related to GUCY2D.

Doc Ophthalmol 2013 Jun 21;126(3):233-40. Epub 2013 May 21.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, 1 Shuai Fu Yuan, Beijing 100730, China.

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http://dx.doi.org/10.1007/s10633-013-9383-0DOI Listing
June 2013

Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients.

Mol Vis 2012 14;18:3021-xxx. Epub 2012 Dec 14.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534138PMC
May 2013

Transthyretin Ala36Pro mutation in a Chinese pedigree of familial transthyretin amyloidosis with elevated vitreous and serum vascular endothelial growth factor.

Exp Eye Res 2013 May 21;110:44-9. Epub 2013 Feb 21.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No. 1 Shuaifuyuan Road, Dongcheng District, Beijing 100710, China.

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https://linkinghub.elsevier.com/retrieve/pii/S00144835130004
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http://dx.doi.org/10.1016/j.exer.2013.02.005DOI Listing
May 2013

Delayed visual recovery in pregnancy-associated thrombotic thrombocytopenic purpura with bilateral serous retinal detachment.

Doc Ophthalmol 2013 Apr 4;126(2):163-9. Epub 2012 Dec 4.

Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, 1 Shuai Fu Yuan, Dongcheng District, Beijing 100730, People's Republic of China.

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http://dx.doi.org/10.1007/s10633-012-9365-7DOI Listing
April 2013

A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalities.

Mol Vis 2012 8;18:2205-12. Epub 2012 Aug 8.

Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, P.R. China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3425574PMC
December 2012

Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.

Mol Vis 2012 28;18:744-50. Epub 2012 Mar 28.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3324356PMC
July 2012

Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation.

Ophthalmic Genet 2012 Jun 15;33(2):77-82. Epub 2011 Dec 15.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.

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http://dx.doi.org/10.3109/13816810.2011.628359DOI Listing
June 2012

Genetic and phenotypic characteristics of three Mainland Chinese families with choroideremia.

Mol Vis 2012 3;18:309-16. Epub 2012 Feb 3.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.

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http://www.molvis.org/molvis/v18/a34/mv-v18-a34-zhou.pdf
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3283217PMC
April 2012

Axenfeld-Rieger syndrome in monozygotic twins.

J Glaucoma 2011 Dec;20(9):584-6

Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, PR China.

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http://dx.doi.org/10.1097/IJG.0b013e3181f7b258DOI Listing
December 2011

Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene.

Doc Ophthalmol 2011 Aug 24;123(1):21-7. Epub 2011 Jun 24.

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Shuai Fu Yuan, Beijing, China.

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http://dx.doi.org/10.1007/s10633-011-9278-xDOI Listing
August 2011

Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.

Hum Mutat 2010 Nov;31(11):1251-60

Section on Translational Research for Retinal and Macular Degeneration, National Institute on Deafness and Other Communication Disorders, National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/humu.21350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2991635PMC
November 2010

Lines of Blaschko and choroideremia.

Ophthalmology 2009 May;116(5):1017-8; author reply 1018

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http://linkinghub.elsevier.com/retrieve/pii/S016164200900065
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http://dx.doi.org/10.1016/j.ophtha.2009.01.025DOI Listing
May 2009

Clinical and genetic characterization of a Chinese family with CSNB1.

Adv Exp Med Biol 2008 ;613:245-52

Department of Ophthalmology, Peking Union Medical College Hospital, Beijing 100730, China.

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http://dx.doi.org/10.1007/978-0-387-74904-4_28DOI Listing
February 2008

[Prevalence of glaucoma and normal intraocular pressure among adults aged 50 years or above in Shunyi county of Beijing].

Zhonghua Yan Ke Za Zhi 2002 Jun;38(6):335-9

Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Eye Research Center of Chinese Academy of Medical Sciences, Beijing 100730, China.

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June 2002