Patient-oriented research is a critical component of DDC Clinic’s medical services, allowing us to focus on early diagnosis and ground-breaking treatment for rare genetic disorders. This translational research was the driving force behind the creation of DDC Clinic Molecular Diagnostics Laboratory. Expanding our services to include clinical testing was a natural progression of our growth. The articles below provide a glimpse into our history as well as our continued interest in clinical research.
Henrickson M, Wang H. (2017) Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation. Clin Rheumatol. doi: 10.1007/s10067-017-3600-2. [Epub ahead of print].
Xin B, Cruz Marino T, Szekely J, Leblanc J, Cechner K, Sency V, Wensel C, Barabas M, Therriault V, Wang H. (2016) Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome. Clin Genet. Oct 4. doi: 10.1111/cge. 12878. [Epub ahead of print].
Wang H, Falk MJ, Wensel C, Traboulsi E. Cohen Syndrome. 2006 Aug 29 [Updated 2016 Jul 21]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
Wang QC, Zheng Q, Tan H, Zhang B, Li X, Yang Y, Yu J, Liu Y, Chai H, Wang X, Sun Z, Wang JQ, Zhu S, Wang F, Yang M, Guo C, Wang H, Zheng Q, Li Y, Chen Q, Zhou A, Tang TS. (2016) TMCO1 Is an ER Ca2+ load-Activated Ca2+ Channel. Cell. Jun 2;165(6):1454-66. doi: 10. 1016/j.cell.2016.04.051. Epub 2016 May 19.
Wang H, Wang A, Wang D, Bright A, Sency V, Zhou A, Xin B. (2016) Early growth and development impairments in patients with ganglioside GM3 synthase deficiency. Clin Genet. 89:625-9.
Beene L, Xin B, Lukas C, Wang H. (2015) Mutations in ELANE and COH1 (VPS13B) Genes Cause Severe Neutropenia in a Patient with Cohen Syndrome. J Clin Cell Immunol. 6:378.
Haqqani A, Marek S, Kumar J, Davenport M, Wang H, Tilton J. (2015) Central memory CD4+ T cells are preferential targets of double infection by HIV-1. Virol J. 12:184.
Li W, Xin B, Yan J, Wu Y, Hu B, Liu L, Wang Y, Ahn J, Skowronski J, Zhang Z, Wang Y, Wang H. (2015) SAMHD1 Gene Mutations Are Associated with Cerebral Large-Artery Atherosclerosis. Biomed Res Int. 2015:739586.
Merati M, Buethe D, Cooper K, Honda K, Wang H, Gerstenblith M. (2015) Aggressive CD81 epidermotropic cutaneous T-cell lymphoma associated with homozygous mutation in SAMHD1. JAAD Case Reports. 1:227-9.
Jinks RN, Puffenberger EG, Baple E, Harding B, Crino P, Fogo AB, Wenger O, Xin B, Koehler AE, McGlincy MH, Provencher MM, Smith JD, Tran L, Al Turki S, Chioza BA, Cross H, Harlalka GV, Hurles ME, Maroofian R, Heaps AD, Morton MC, Stempak L, Hildebrandt F, Sadowski CE, Zaritsky J, Campellone K, Morton DH, Wang H, Crosby A, Strauss KA. (2015) Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. Brain. 138:2173-90.
Ferreira C, Wang H. (2015) Prolidase Deficiency. GeneReviews [Internet]. 2015 Jun25.
Huang Q, Zhou X, Liu D, Xin B, Cechner K, Wang H, Zhou A. (2014) A new liquid chromatography/tandem mass spectrometry method for quantification of gangliosides in human plasma. Analytical Biochemistry 455:26-34.
Kurien B, Souza A, Bruner B, Gross T, James J, Targoff I, Maier-Moore J, Harley I, Wang H, Scofield H. (2013) Prolidase deficiency breaks tolerance to lupus-associated antigens. Int J Rheum Dis. 16:674-80.
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.
Xin B, Wang H. (2013) Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome. Mol Syndromol 3:288-290.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.