Heng Wang

Summary

Publications

  1. doi request reprint Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency
    Heng Wang
    DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA
    Am J Med Genet A 161:875-9. 2013
  2. ncbi request reprint Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements
    Heng Wang
    Das Deutsch Center DDC Clinic for Special Needs Children, Middlefield, Ohio 44062, USA
    Am J Med Genet A 143:1938-40. 2007
  3. pmc Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke
    Baozhong Xin
    DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA
    Proc Natl Acad Sci U S A 108:5372-7. 2011
  4. pmc Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation
    Baozhong Xin
    DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA
    Proc Natl Acad Sci U S A 107:258-63. 2010
  5. ncbi request reprint Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy
    Baozhong Xin
    Das Deutsch Center Clinic for Special Needs Children, Middlefield, Ohio 44062, USA
    Am J Med Genet A 143:2662-7. 2007
  6. ncbi request reprint Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features
    Mehryar Taban
    Department of Pediatric Ophthalmology and the Center for Genetic Eye Diseases, Cole Eye Institute, The Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    J AAPOS 11:431-7. 2007
  7. ncbi request reprint A nonsense mutation of PEPD in four Amish children with prolidase deficiency
    Heng Wang
    Das Deutsch Center DDC Clinic for Special Needs Children, Middlefield, Ohio 44062, USA
    Am J Med Genet A 140:580-5. 2006
  8. ncbi request reprint Etiology of vision loss in ganglioside GM3 synthase deficiency
    Fahhad Farukhi
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Ophthalmic Genet 27:89-91. 2006
  9. ncbi request reprint Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase
    Michael A Simpson
    Department of Medical Genetics, St George s Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK
    Nat Genet 36:1225-9. 2004
  10. ncbi request reprint [Linkage disequilibrium analysis of the single nucleotide polymorphisms in the PRKCZ gene]
    Hong xia Sun
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS, PUMC, Beijing 100005, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 24:474-80. 2002

Collaborators

  • K M Kaufman
  • R Scofield
  • Baozhong Xin
  • Hong xia Sun
  • Wei Nan Du
  • Jin Zuo
  • Fu De Fang
  • Zhi Jian Yao
  • Bo qin Qiang
  • Zhu Chen
  • Wei Huang
  • Yan Shen
  • Jian mei Hang
  • Aimin Zhou
  • Erik G Puffenberger
  • Haiyan Tan
  • Joanna C Bakowska
  • Guo Dong Wu
  • Mehryar Taban
  • Elias I Traboulsi
  • Fahhad Farukhi
  • Michael A Simpson
  • Yun Feng Li
  • Hui yuan Luo
  • DIMITRIS AGAMANOLIS
  • Stephen Jones
  • Alicia Bright
  • Claas Hinze
  • Guiyun Wu
  • Jilda Vargus-Adams
  • Susan Turben
  • Craig Blackstone
  • Charlotte J Sumner
  • John Tumbush
  • Lihadh I Al-Gazali
  • Dina S A Memoracion-Peralta
  • J R Bockoven
  • Erik Puffenberger
  • Claudia Dakkouri
  • Max Wiztnitzer
  • Harold Cross
  • Michael A Patton
  • Frances M Platt
  • David C A Neville
  • Max Wiznitzer
  • Christos Proukakis
  • Gabriele Reinkensmeier
  • David A Priestman
  • Kay Gurtz
  • Raymond A Dwek
  • Terry D Butters
  • Andrew H Crosby
  • Anna Pryde
  • Argyro Verganelaki
  • Kui xing Zhang
  • Xiu Feng Hua
  • Zheng wen Jiang
  • Wei Gao
  • Jun Gu
  • Gui bin Shi
  • Jin xiu Shi
  • Qi Sun
  • Mo Miao Xiong

Detail Information

Publications15

  1. doi request reprint Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency
    Heng Wang
    DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA
    Am J Med Genet A 161:875-9. 2013
    ..These distinct pigmentary features are not identified in 54 normal siblings, and may provide a useful clue in identifying patients with ganglioside metabolic disorders...
  2. ncbi request reprint Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements
    Heng Wang
    Das Deutsch Center DDC Clinic for Special Needs Children, Middlefield, Ohio 44062, USA
    Am J Med Genet A 143:1938-40. 2007
  3. pmc Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke
    Baozhong Xin
    DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA
    Proc Natl Acad Sci U S A 108:5372-7. 2011
    ..The function of SAMHD1 remains unclear, but the inflammatory vasculopathies of the brain found in the patients with SAMHD1 mutation indicate its important roles in immunoregulation and cerebral vascular hemeostasis...
  4. pmc Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation
    Baozhong Xin
    DDC Clinic for Special Needs Children, Middlefield, OH 44062, USA
    Proc Natl Acad Sci U S A 107:258-63. 2010
    ..This report shows a TMCO1 sequence variant being associated with a genetic disorder in human. We propose "TMCO1 defect syndrome" as the name of this condition...
  5. ncbi request reprint Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy
    Baozhong Xin
    Das Deutsch Center Clinic for Special Needs Children, Middlefield, Ohio 44062, USA
    Am J Med Genet A 143:2662-7. 2007
    ..It is also concerning that many unidentified heterozygous individuals who are at risk for development of hypertrophic cardiomyopathy do not receive proper medical attention in the communities...
  6. ncbi request reprint Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features
    Mehryar Taban
    Department of Pediatric Ophthalmology and the Center for Genetic Eye Diseases, Cole Eye Institute, The Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    J AAPOS 11:431-7. 2007
    ..To review the clinical features of reported cases of Cohen syndrome with a focus on ophthalmic features and report nine new cases...
  7. ncbi request reprint A nonsense mutation of PEPD in four Amish children with prolidase deficiency
    Heng Wang
    Das Deutsch Center DDC Clinic for Special Needs Children, Middlefield, Ohio 44062, USA
    Am J Med Genet A 140:580-5. 2006
    ..793 T > C in exon 11, resulting in a premature stop-codon at amino acid residue 265 (p.R265X). It is speculated that the severe phenotype in these patients might be associated with the type of the PEPD gene mutation...
  8. ncbi request reprint Etiology of vision loss in ganglioside GM3 synthase deficiency
    Fahhad Farukhi
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Ophthalmic Genet 27:89-91. 2006
    ..To investigate the cause of vision loss in patients with ganglioside GM3 synthase deficiency, a newly described rare autosomal recessive infantile-onset symptomatic epilepsy syndrome associated with developmental stagnation and blindness...
  9. ncbi request reprint Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase
    Michael A Simpson
    Department of Medical Genetics, St George s Hospital Medical School, University of London, Cranmer Terrace, London SW17 0RE, UK
    Nat Genet 36:1225-9. 2004
    ....
  10. ncbi request reprint [Linkage disequilibrium analysis of the single nucleotide polymorphisms in the PRKCZ gene]
    Hong xia Sun
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS, PUMC, Beijing 100005, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 24:474-80. 2002
    ....
  11. ncbi request reprint [Functional analysis of the single nucleotide polymorphisms in the PRKCZ gene]
    Hong xia Sun
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS, PUMC, Beijing 100005, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 24:471-3. 2002
    ..To study the function of 5 single nucleotide polymorphisms (SNPs) of the PRKCZ gene, a susceptibility gene for type 2 diabetes in Han population of North China, in the pathogenesis of the disease...
  12. doi request reprint Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism?
    Joanna C Bakowska
    Cellular Neurology Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland 20892 3704, USA
    Arch Neurol 65:520-4. 2008
    ..This mutation is predicted to cause premature termination of the spartin protein. However, it remains unknown whether this truncated spartin protein is absent or is present and partially functional in patients...
  13. ncbi request reprint [Fine mapping of susceptibility genes loci within chromosome 1 in Chinese Han families with type 2 diabetes]
    Wei Nan Du
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 24:234-7. 2002
    ....
  14. ncbi request reprint [Single nucleotide polymorphisms in CAPN10 gene of Chinese population and its correlation with type 2 diabetes mellitus in Han people of northern China]
    Hong xia Sun
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 24:228-33. 2002
    ..To investigate the distribution of the single nucleotide polymorphisms (SNPs) in CAPN10 gene in Chinese population and their relation with type 2 diabetes mellitus in Han people of Northern China...
  15. ncbi request reprint [The association of two single nucleotide polymorphisms in PRKCZ and UTS2 respectively with type 2 diabetes in Han people of northern China]
    Hong xia Sun
    National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, CAMS and PUMC, Beijing 100005, China
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao 24:223-7. 2002
    ..To probe the candidate susceptibility gene (s) of type 2 diabetes in the formal mapping region, 1p36.33-p36.23, in Han people of Northern China using single nucleotide polymorphisms (SNPs)...