Publications by authors named "Jacques Zaneveld"

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Utility of patient-specific silicone renal models for planning and rehearsal of complex tumour resections prior to robot-assisted laparoscopic partial nephrectomy.
Friedrich-Carl von Rundstedt, Jason M Scovell, Smriti Agrawal, Jacques Zaneveld, Richard E Link

BJU Int· April 2017

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Gene Therapy Rescues Retinal Degeneration in Receptor Expression-Enhancing Protein 6 Mutant Mice.
Smriti Agrawal Zaneveld, Aiden Eblimit, Qingnan Liang, Renae Bertrand, Nathaniel Wu, Jacques Zaneveld

Hum Gene Ther· March 2019

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Ku DNA End-Binding Activity Promotes Repair Fidelity and Influences End-Processing During Nonhomologous End-Joining in .
Charlene H Emerson, Christopher R Lopez, Albert Ribes-Zamora, Erica J Polleys, Christopher L Williams, Jacques E Zaneveld

Genetics· May 2018

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Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Lichun Jiang, Xiaofang Liang, Yumei Li, Jing Wang, Jacques Eric Zaneveld

Orphanet J Rare Dis· September 2015

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Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.
Garima Juyal, Sapna Negi, Ajit Sood, Aditi Gupta, Pushplata Prasad, Jacques Zaneveld

Gut· April 2015

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Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.
Jacques Zaneveld, Sorath Siddiqui, Huajin Li, Xia Wang, Hui Wang

Genet Med· April 2015

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Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
Li Zhao, Feng Wang, Hui Wang, Yumei Li, Sharon Alexander, Jacques E Zaneveld

Hum Genet· February 2015

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A homozygous missense mutation in NEUROD1 is associated with nonsyndromic autosomal recessive retinitis pigmentosa.
Feng Wang, Huajin Li, Mingchu Xu, Hui Li, Li Zhao, Jacques E Zaneveld

Invest Ophthalmol Vis Sci· December 2014

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TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients.
Rafael Bejar, Allegra Lord, Kristen Stevenson, Michal Bar-Natan, Albert Pérez-Ladaga, Jacques Zaneveld

Blood· October 2014

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Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements.
Feng Wang, Hui Wang, Han-Fang Tuan, Duy H Nguyen, Vincent Sun, Jacques E Zaneveld

Hum Genet· March 2014

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CGAP-align: a high performance DNA short read alignment tool.
Yaoliang Chen, Ji Hong, Wanyun Cui, Jacques Zaneveld, Wei Wang

PLoS One· October 2013

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Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
Xia Wang, Hui Wang, Vincent Sun, Han-Fang Tuan, Vafa Keser, Jacques E Zaneveld

J Med Genet· October 2013

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Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa.
Qing Fu, Feng Wang, Hui Wang, Fei Xu, Jacques E Zaneveld

Invest Ophthalmol Vis Sci· June 2013

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Dawn of ocular gene therapy: implications for molecular diagnosis in retinal disease.
Jacques Zaneveld, Feng Wang, Xia Wang, Rui Chen

Sci China Life Sci· February 2013

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