Xin B, Puffenberger E, Tumbush J, Bockoven JR and Wang H: Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy. American Journal of Medical Genetics, 143A: 2663-2667, 2007. Click here to review

Taban M, Memoracion-Peralta DS, Wang H and Traboulsi E: Cohen syndrome: Report of nine cases and review of the literature, with emphasis on ophthalmic features. Journal of American Association for Pediatric Ophthalmology and Strabismus, 2007 (Epub ahead of print).  Click here to review

Wang H, Nye L, Puffenberger E and Morton H: Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements. American Journal of Medical Genetics, 143A:1938-1940, 2007. Click here to review

Farukhi F, Dakkouri C, Wang H, Wiztnizer and Traboulsi E: Etiology of vision loss in ganglioside GM3 synthase deficiency. Ophthalmic Genetics 27:89-91, 2006. Click here to review

Falk M, Wang H and 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 and Scofield RH: A nonsense mutation of PEPD in four Amish Children with prolidase deficiency. American Journal of medical Genetics, 140A:580-585, 2006. Click here to review

Kurien BT, Patel NC, Porter AC, D’Souza A, Miller D, Matsumoto H, Wang H and Scofield RH: Prolidase deficiency and biochemistry assays used in its diagnosis. Analytic Biochemistry 349:165-175, 2006.Click here to review

Kurien BT, Patel NC, Porter AC, Kurono S, Matsumoto H, Wang H and Scofield RH: Determination of prolidase activity using matrix assisted laser desorption ionization time-of-flight mass spectrometry. Analytic Biochemistry 331:224-229, 2004. 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: Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nature Genetics 36:1225-1229, 2004. Click here to review