Selected Publications
Wang H, Bright A, Xin B, Bockoven JR, Paller AS. (2013) Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency. Am J Med Genet 161A:875-879. Click here to review
Xin B, Wang H. (2013) Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome. Mol Syndromol 3:288-290. Click here to review
Puffenberger EG, Jinks RN, Wang H, Xin B, Fiorentini C, Sherman EA, Degrazio D, Shaw C, Sougnez C, Cibulskis K, Gabriel S, Kelley RI, Morton DH, Strauss KA. (2012) A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. Hum Mutat 33:1639-1646. Click here to review
Li W, Hu B, Li GL, Zhao XQ, Xin B, Lin JX, Shen Y, Liang XH, Liu GF, Gao HQ, Liao XL, Liang ZG, Wang YJ. (2012) Heterozygote genotypes at rs2222823 and rs2811712 SNP loci are associated with cerebral small vessel disease in Han Chinese population. CNS Neurosci Ther 18:558-565. Click here to review
Xin B, Li W, Bright A, Hinze C, Wang H. (2011) Reply to du Moulin et al.: Cerebral vasculopathy is a common hallmark in individuals with SAMHD1 mutations. Proc Natl Acad Sci USA 108:E233. Click here to review
Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman J. (2011) Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clin Genet Aug 4. [Epub ahead of print] Click here to review
De S, Borowski AG, Wang H, Nye L, Xin B, Thomas JD, Tang WH. (2011) Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy. Am Heart J 162:262-267. Click here to review
He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich RC, Li W, Sebastian N, Wen B, Xin B, Singh J, Yan P, Alder H, Haan E, Wieczorek D, Albrecht B, Puffenberger E, Wang H, Westman JA, Padgett RA, Symer DE, de la Chapelle A. (2011) Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science 332:238-240.Click here to review
Xin B, Jones S, Puffenberger EG, Hinze C, Bright A, Tan H, Zhou A, Wu G, Vargus-Adams J, Agamanolis D, Wang H. (2011) A homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. Proc Natl Acad Sci USA 108(13):5372-5377. Click here to review
Wang H, Xin B. (2011) Hypertrophic Cardiomyopathy in the Amish Community – What We May Learn from It. Prog Pediatr Cardiol 31:129-134. (Review article).
Xin B, Wang H. (2011) Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish. Clin Genet 79:86-91. Click here to review
Kelly JJ, Freeman AF, Wang H, Cowen EW, Kong HH. (2010) An Amish boy with recurrent ulcerations of the lower extremities, telangiectases of the hands, and chronic lung disease. J Am Acad Dermatol 62:1031-1034. Click here to review
Xin B, Puffenberger EG, Turben S, Tan H, Zhou A, Wang H. (2010) Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Proc Natl Acad Sci USA 107:258-263. Click here to review
Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H. (2008) A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family. Clin Genet 74:274-278. Click here to review
Bakowska JC, Wang H, Xin B, Sumner CJ, Blackstone C. (2008) Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism? Arch Neurol 65:520-524. Click here to review
Xin B, Puffenberger E, Tumbush J, Bockoven JR, Wang H. (2007) Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy. Am J Med Genet 143A: 2663-2667. Click here to review
Taban M, Memoracion-Peralta DS, Wang H, Al-Gazali LI, Traboulsi E. (2007) Cohen syndrome: Report of nine cases and review of the literature, with emphasis on ophthalmic features. J AAPOS 11:431-437. Click here to review
Wang H, Nye L, Puffenberger E, Morton H. (2007) Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements. Am J Med Genet 143A:1938-1940. Click here to review
Farukhi F, Dakkouri C, Wang H, Wiztnizer M, Traboulsi E. (2006) Etiology of vision loss in ganglioside GM3 synthase deficiency. Ophthalmic Genet 27:89-91. Click here to review
Falk M, Wang H, Traboulsi E. Cohen Syndrome in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2006. Available at http://www.genetests.org. since August 2006. Click here to review
Wang H, Kurien BT,Lundgren D, Patel NC, Kaufman KM, Miller DL, Porter AC, D’Souza A, Nye L, Tumbush J, Hupertz V, Kerr DS, Kurono S, Matsumoto H, Scofield RH. (2006) A nonsense mutation of PEPD in four Amish Children with prolidase deficiency. Am J Med Genet 140A:580-585. Click here to review
Kurien BT, Patel NC, Porter AC, D’Souza A, Miller D, Matsumoto H, Wang H, Scofield RH. (2006) Prolidase deficiency and biochemistry assays used in its diagnosis. Anal Biochem 349:165-175. Click here to review
Kurien BT, Patel NC, Porter AC, Kurono S, Matsumoto H, Wang H, Scofield RH. (2004) Determination of prolidase activity using matrix assisted laser desorption ionization time-of-flight mass spectrometry. Anal Biochem 331:224-229. Click here to review
Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH. (2004) Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nat Genet 36:1225-1229. Click here to review