Selected Publications By Disease


Through patient-oriented translational research, we’ve achieved improved diagnoses and groundbreaking treatments, bringing relief to children and hope to their families. Our findings have been published in these prestigious journals, enabling us to share our knowledge with physicians and researchers around the world.

View selected publications

Cohen Syndrome

Li A, Gandhi A, Wang H, Traboulsi EI. (2018) Bilateral angle closure glaucoma in a 28-year-old Cohen syndrome patient. Ophthalmic Genet 39(5):657-658.

Wang H, Falk M, Wensel C, Traboulsi E. (2016) Cohen Syndrome. GeneReviews.

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(6):378.

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(5):431-437.

Ganglioside GM3 Synthase Deficiency

Wang H, Sency V, McJarrow P, Bright A, Huang Q, Cechner K, Szekely J, Brace J, Wang A, Liu D, Rowan A, Wiznitzer M, Zhou A, Xin B. (2018) Oral ganglioside supplement improves growth and development in patients with Ganglioside GM3 Synthase Deficiency. JIMD 45:9-20.

Huang Q, Liu D, Xin B, Cechner K, Zhou X, Wang H, Zhou A. (2016) Quantification of monosialogangliosides in human plasma through chemical derivatization for signal enhancement in LCeESI-MS. Analytica Chimica Acta 929:31-38.

Wang H, Wang A, Wang D, Bright A, Sency V, Zhou A, Xin B. (2015) Early growth and development impairment in patients with ganglioside GM3 synthase deficiency. Clin Genet. 89(5):625-629.

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.

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(4):875-879.

Farukhi F, Dakkouri C, Wang H, Wiztnizer M, Traboulsi E. (2006) Etiology of vision loss in ganglioside GM3 synthase deficiency. Ophthalmic Genet 27(3):89-91.

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(11):1225-1229.


Abraham JR, Barnard J, Wang H, Noritz GH, Yeganeh M, Buhas D, Natowicz MR. (2019) Proteomic investigations of human HERC2 mutants: Insights into the pathobiology of a neurodevelopmental disorder. Biochem Biophys Res Commun 512(2):421-427.

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(12):1639-1646.

Hypertrophic Cardiomyopathy

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(2):262-267.

Wang H, Xin B. (2011) Hypertrophic Cardiomyopathy in the Amish community – what we may learn from it. Prog Pediatr Cardiol 31(2):129-134.

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(22):2663-2667.

Microcephalic osteodysplastic primordial dwarfism type I (MOPD I)

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 82(2):140-146.

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(6026):238-240.

Prolidase Deficiency

Ferreira C, Wang H. (2015) Prolidase Deficiency. GeneReviews [Internet].

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(6):674-80.

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(6):1031-1034.

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(6):580-585.

Kurien BT, Patel NC, Porter AC, D’Souza A, Miller D, Matsumoto H, Wang H, Scofield RH. (2006) Prolidase Deficiency and the biochemical assays used in its diagnosis. Anal Biochem 349(2):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(2):224-229.

Pyruvate Kinase Deficiency

Boscoe A, Yan Y, Hedgeman E, van Beers EJ, Al-Samkari H, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Sharma M, Kuo KHM, Neufeld EJ, Wang H, Verhovsek M, Sheth S, Grace RF. (2020) Comorbidities and complications in adults with pyruvate kinase deficiency. Eur J Haematol. DOI: 10.1111/ejh.13572

Bianchi P, Fermo E, Lezon-Geyda K, van Beers E, Morton H, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger P, Kollmar N, Despotovic J, Verhovsek M, Sharma M, Kwiatkowski J, Kuo K, Wlodarski M, Yanish H, Holzhauer S, Wang H, Kunz J, Addonizio K, Al-Sayegh H, London W, Andres O, van Wijk R, Gallagher P, Grace R. (2020) Genotype-phenotype Correlation and Molecular Heterogeneity in Pyruvate Kinase Deficiency. Am J Hematol. 95(5):472-482.

Al-Samkari H, Addonizio K, Glader B, Morton D, Chonat S, Thompson A, Kuo K, Rayindranath Y, Wang H, Rothman J, Kwiatkowski J, Kung C, Kosinski P, Al-Sayegh H, London W, Grace R. (2020) The Pyruvate Kinase (PK) to Hexokinase Enzyme Activity Ratio and Erythrocyte PK Protein Level in the Diagnosis and Phenotype of PK Deficiency. Br J Haematol.  doi: 10.1111/bjh.16724.

Al-Samkari H, van Beers E, Morton D, Barcellini W, Eber S, Glader B, Yaish H, Chonat S, Kuo K, Kollmar N, Despotovic J, Pospisilova D, Knoll C, Kwiatkowski J, Pastore Y, Thomspon A, Wlodarski M, Ravindranath Y, Rothman J, Wang H, Holzhauer S, Breakey V, Verhovsek M, Kunz J, Sheth S, Sharma M, Rose M, Bradeen H, McNaull M, Addonizio K, Al-Sayegh H, London W, Grace R (2020) Characterization of the Severe Phenotype of Pyruvate Kinase Deficiency. Am J Hematol. doi: 10.1002/ajh.25926.

Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W. (2018) The clinical spectrum of Pyruvate Kinase Deficiency: Data from the Pyruvate Kinase Deficiency natural history study. Blood 131(20):2183-2192.

van Beers EJ, van Straaten S, Morton DH, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Kwiatkowski JL, Rothman JA, Sharma M, Neufeld EJ, Sheth S, Despotovic JM, Kollmar N, Pospíšilová D, Knoll CM, Kuo K, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Verhovsek M, Kunz J, McNaull MA, Rose MJ, Bradeen HA, Addonizio K, Li A, Al-Sayegh H, London WB, Grace RF. (2018) Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study. Haematologica 104(2):e51-e53.


Henrickson M, Wang H. (2017) Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation. Clin Rheumatol 36(6):1445-1451.

Wang, H, Xin, B (2016) SAMHD1 gene mutations are associated with cerebral large-artery atherosclerosis. International Atherosclerosis Society (Commentary, not available in print)

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(4):227-229.

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(26):E233.

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.

Tatton-Brown-Rahman syndrome

Tovy A, Reyes J, Gundry M, Lorenzo B, Lee-Six H, Petljak M, Park H, Guzman A, Rosas C, Jeffries A, Baple E, Mill J, Crosby A, Sency V, Xin B, Machado H, Castillo D, Weitzel J, Li W, Stratton M, Campbell P, Wang H, Sanders M, Goodell M. (2020) Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual is Associated with Conserved Epigenetic Erosion. J Stem. doi: 10.1016/j.stem.2020.06.018.

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 [Epub ahead of print]


Batchelor-Regan HR, Xin B, Zhou A, Wang H. (2021) From disease description and gene discovery to functional cell pathway: a decade-long journey for TMCO1. Front. Genet. doi: 10.3389/fgene.2021.652400

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 165(6):1-13

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(1):258-263.