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.
Cerebral Small Vessel Disease
Heterozygote genotypes at rs2222823 and rs2811712 SNP loci are associated with cerebral small vessel disease in Han Chinese population (2012)
Li, W., Hu, B., Li, G. L., Zhao, X. Q., Xin, B. Z., Lin, J. X., Shen, Y., Liang, X. H., Liu, G. F., Gao, H. Q., Liao, X. L., Liang, Z. G., & Wang, Y. J.
CNS Neurosci Ther, 18(7): 558-565
[PMID#: 22621687]
Charcot-Marie-Tooth Disease
A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family (2008)
Xin, B., Puffenberger, E., Nye, L., Wiznitzer, M., & Wang, H.
Clin Genet, 74(3): 274-278
[PMID#: 18492089]
Cockayne Syndrome
Identification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome (2013)
Xin, B., & Wang, H.
Molecular Syndromol, 3(6): 288-290
[PMID#: 23599700]
Cohen Syndrome
Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected (2023)
Montillot, C., Skutunova, E., Ayushma, Dubied, M., Lahmar, A., Nguyen, S., Peerally, B., Prin, F., Duffourd, Y., Thauvin-Robinet, C., Duplomb, L., Wang, H., Ansar, M., Faivre, L., Navarro, N., Minocha, S., Collins, S.C., & Yalcin, B.
Neurobiol Dis, 185: 106259
[PMID#: 37573958]
Bilateral angle closure glaucoma in a 28-year-old Cohen syndrome patient (2018)
Li, A., Gandhi, A., Wang, H., & Traboulsi, E. I.
Ophthalmic Genet, 39(5): 657-658
[PMID#: 29985682]
Cohen Syndrome (2016)
Wang, H., Falk, M. J., Wensel, C., & Traboulsi, E. I.
GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2006 Aug 29 [updated 2016 Jul 21]
[PMID#: 20301655]
Mutations in ELANE and COH1 (VPS13B) Genes Cause Severe Neutropenia in a Patient with Cohen Syndrome (2015)
Beene, L., Xin, B., Lukas, C., & Wang, H.
Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features (2007)
Taban, M., Memoracion-Peralta, D. S., Wang, H., Al-Gazali, L. I., & Traboulsi, E. I.
J AAPOS, 11(5): 431-437
[PMID#: 17383910]
Cystic Fibrosis
Idiopathic chronic pancreatitis treated with ivacaftor in a CFTR carrier with methylmalonic acidemia (2021)
Tang, T. Y., Cruz, V. B., & Konczal, L. L.
J Cyst Fibros, 21(4): 603-605
[PMID#: 34974990]
Dopa-Responsive Dystonia
Dopa-Responsive Dystonia: A Male Patient Inherited a Novel GCH1 Deletion from an Asymptomatic Mother (2020)
Wang, W., Xin, B., & Wang, H.
J Mov Disord, 13(2): 150-153
[PMID#: 32183506]
Glucose-Galactose Malabsorption
Congenital Glucose-Galactose Malabsorption: A Case Report (2017)
Anderson, S., Koniaris, S., Xin, B., & Brooks, S. S.
J Pediatr Health Care, 31(4): 506-510
[PMID#: 28283348]
Multiple sequence variations in SLC5A1 gene are associated with glucose-galactose malabsorption in a large cohort of Old Order Amish (2011)
Xin, B., & Wang, H.
Clin Genet, 79(1): 86-91
[PMID#: 20486940]
GM3 Synthase Deficiency
GM3 Synthase Deficiency (2023)
Cruz, V., Xin, B., & Wang, H.
GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2023 Jul 20.
[PMID#: 37471511]
Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency (2018)
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.
JIMD Rep, 45: 9-20
[PMID#: 30209782]
Quantification of monosialogangliosides in human plasma through chemical derivatization for signal enhancement in LC-ESI-MS (2016)
Huang, Q., Liu, D., Xin, B., Cechner, K., Zhou, X., Wang, H., & Zhou, A.
Anal Chim Acta, 929: 31-38
[PMID#: 27251946]
Early growth and development impairments in patients with ganglioside GM3 synthase deficiency (2015)
Wang, H., Wang, A., Wang, D., Bright, A., Sency, V., Zhou, A., & Xin, B.
Clin Genet, 89(5): 625-629
[PMID#: 26649472]
A new liquid chromatography/tandem mass spectrometry method for quantification of gangliosides in human plasma (2014)
Huang, Q., Zhou, X., Liu, D., Xin, B., Cechner, K., Wang, H., & Zhou, A.
Anal Biochem, 455: 26-34
[PMID#: 24680754]
Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency (2013)
Wang, H., Bright, A., Xin, B., Bockoven, J. R., & Paller, A. S.
Am J Med Genet A, 161A(4): 875-879
[PMID#: 23436467]
Etiology of vision loss in ganglioside GM3 synthase deficiency (2006)
Farukhi, F., Dakkouri, C., Wang, H., Wiztnitzer, M., & Traboulsi, E. I.
Ophthalmic Genet, 27(3): 89-91
[PMID#: 17050284]
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase (2004)
Simpson, M. A., Cross, H., Proukakis, C., Priestman, D. A., Neville, D. C., Reinkensmeier, G., Wang, H., Wiznitzer, M., Gurtz, K., Verganelaki, A., Pryde, A., Patton, M. A., Dwek, R. A., Butters, T. D., Platt, F. M., & Crosby, A. H.
Nat Genet, 36(11): 1225-1229
[PMID#: 15502825]
HERC2 Disorder
Proteomic investigations of human HERC2 mutants: Insights into the pathobiology of neurodevelopmental disorder (2019)
Abraham, J. R., Barnard, J., Wang, H., Noritz, G. H., Yeganeh, M., Buhas, D., & Natowicz, M. R.
Biochem Biophys Res Commun, 512(2): 421-427
[PMID#: 30902390]
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder (2012)
Puffenberger, E. G., Jinks, R. N., Wang, H., Xin, B., Fiorentini, C., Sherman, E. A., Degrazio, D., Shaw, C., Sougnez, C., Cibulskis, K., Gabriel, S., Kelley, R. I., Morton, D. H., & Strauss, K. A.
Hum Mutat, 33(12): 1639-1646
[PMID#: 23065719]
Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy in the Amish community – what we may learn from it (2011)
Wang, H., & Xin, B.
Prog Pediatr Cardiol, 31(2): 129-134
[DOI: https://doi.org/10.1016/j.ppedcard.2011.02.011]
Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy (2011)
De, S., Borowski, A. G., Wang, H., Nye, L., Xin, B., Thomas, J. D., & Tang, W. H.
Am Heart J, 162(2): 262-267
[PMID#: 21835286]
Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy (2007)
Xin, B., Puffenberger, E., Tumbush, J., Bockoven, J. R., & Wang, H.
Am J Med Genet A, 143A(22): 2662-2667
[PMID#: 17937428]
MOPD1
Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene (2011)
Nagy, R., Wang, H., Albrecht, B., Wieczorek, D., Gillessen-Kaesbach, G., Haan, E., Meinecke, P., de la Chapelle, A., & Westman, J. A.
Clin Genet, 82(2): 140-146
[PMID#: 21815888]
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I (2011)
He, H., Liyanarachchi, S., Akagi, K., Nagy, R., Li, J., Dietrich, R. C., 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, J. A., Padgett, R. A., Symer, D. E., & de la Chapelle, A.
Science, 332(6026): 238-240
[PMID#: 21474760]
NRCAM-Related Neurodevelopmental Syndrome
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity (2022)
Kurolap, A., Kreuder, F., Gonzaga-Jauregui, C., Duvdevani, M. P., Harel, T., Tammer, L., Xin, B., Bakhtiari, S., Rice, J., van Eyk, C. L., Gecz, J., Mah, J. K., Atkinson, D., Cope, H., Sullivan, J. A., Douek, A. M., Colquhoun, D., Henry, J., Wlodkowic, D., Parman, Y., Candayan, A., Kocasoy-Orhan, E., Ilivitzki, A., Soudry, S., Leibu, R., Glaser, F., Sency, V., Network, U. D., Ast, G., Shashi, V., Fahey, M. C., Battaloglu, E., Jordanova, A., Meiner, V., Innes, A. M., Wang, H., Elpeleg, O., Kruer, M. C., Kaslin, J., & Baris Feldman, H.
Am J Hum Genet, 109(3): 518-532
[PMID#: 35108495]
Phenylketonuria (PKU)
Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements (2007)
Wang, H., Nye, L., Puffenberger, E., & Morton, H.
Am J Med Genet A, 143A(16): 1938-1940
[PMID#: 17630668]
Progressive Familial Intrahepatic Cholestasis
Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency (2022)
Felzen, A., van Wessel, D. B. E., Gonzales, E., Thompson, R. J., Jankowska, I., Shneider, B. L., Sokal, E., Grammatikopoulos, T., Kadaristiana, A., Jacquemin, E., Spraul, A., Lipinski, P., Czubkowski, P., Rock, N., Shagrani, M., Broering, D., Nicastro, E., Kelly, D., Nebbia, G., Arnell, H., Fischler, B., Hulscher, J. B. F., Serranti, D., Arikan, C., Polat, E., Debray, D., Lacaille, F., Goncalves, C., Hierro, L., Munoz Bartolo, G., Mozer-Glassberg, Y., Azaz, A., Brecelj, J., Dezsofi, A., Calvo, P. L., Grabhorn, E., Hartleif, S., van der Woerd, W. J., Kamath, B. M., Wang, J. S., Li, L., Durmaz, O., Kerkar, N., Jorgensen, M. H., Fischer, R., Jimenez-Rivera, C., Alam, S., Cananzi, M., Laverdure, N., Ferreira, C. T., Guerrero, F. O., Wang, H., Sency, V., Kim, K. M., Chen, H. L., de Carvalho, E., Fabre, A., Bernabeu, J. Q., Zellos, A., Alonso, E. M., Sokol, R. J., Suchy, F. J., Loomes, K. M., McKiernan, P. J., Rosenthal, P., Turmelle, Y., Horslen, S., Schwarz, K., Bezerra, J. A., Wang, K., Hansen, B. E., Verkade, H. J., Natural Course and Prognosis of PFIC and Effect of Biliary Division (NAPPED) Consortium
JHEP Rep, 5(2): 100626
[PMID#: 36687469]
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency (2021)
van Wessel, D. B. E., Thompson, R. J., Gonzales, E., Jankowska, I., Shneider, B. L., Sokal, E., Grammatikopoulos, T., Kadaristiana, A., Jacquemin, E., Spraul, A., Lipinski, P., Czubkowski, P., Rock, N., Shagrani, M., Broering, D., Algoufi, T., Mazhar, N., Nicastro, E., Kelly, D., Nebbia, G., Arnell, H., Fischler, B., Hulscher, J. B. F., Serranti, D., Arikan, C., Debray, D., Lacaille, F., Goncalves, C., Hierro, L., Munoz Bartolo, G., Mozer-Glassberg, Y., Azaz, A., Brecelj, J., Dezsofi, A., Luigi Calvo, P., Krebs-Schmitt, D., Hartleif, S., van der Woerd, W. L., Wang, J. S., Li, L. T., Durmaz, O., Kerkar, N., Horby Jorgensen, M., Fischer, R., Jimenez-Rivera, C., Alam, S., Cananzi, M., Laverdure, N., Targa Ferreira, C., Ordonez, F., Wang, H., Sency, V., Mo Kim, K., Chen, H. L., Carvalho, E., Fabre, A., Quintero Bernabeu, J., Alonso, E. M., Sokol, R. J., Suchy, F. J., Loomes, K. M., McKiernan, P. J., Rosenthal, P., Turmelle, Y., Rao, G. S., Horslen, S., Kamath, B. M., Rogalidou, M., Karnsakul, W. W., Hansen, B., Verkade, H. J.,
Hepatology, 74(2): 892-906
[PMID#: 33666275]
Prolidase Deficiency
Prolidase Deficiency (2022)
Rossignol, F., Wang, H., & Ferreira, C.
GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993. 2015 Jun 25 [updated 2022 Jul 7]
[PMID#: 26110198]
Prolidase deficiency breaks tolerance to lupus-associated antigens (2013)
Kurien, B. T., D’Sousa, A., Bruner, B. F., Gross, T., James, J. A., Targoff, I. N., Maier-Moore, J. S., Harley, I. T., Wang, H., & Scofield, R. H.
Int J Rheum Dis, 16(6): 674-680
[PMID#: 24330273]
An Amish boy with recurrent ulcerations of the lower extremities, telangiectases of the hands, and chronic lung disease (2010)
Kelly, J. J., Freeman, A. F., Wang, H., Cowen, E. W., & Kong, H. H.
J Am Acad Dermatol, 62(6): 1031-1034
[PMID#: 20466176]
A nonsense mutation of PEPD in four Amish children with prolidase deficiency (2006)
Wang, H., Kurien, B. T., Lundgren, D., Patel, N. C., Kaufman, K. M., Miller, D. L., Porter, A. C., D’Souza, A., Nye, L., Tumbush, J., Hupertz, V., Kerr, D. S., Kurono, S., Matsumoto, H., & Scofield, R. H.
Am J Med Genet A, 140(6): 580-585
[PMID#: 16470701]
Prolidase deficiency and the biochemical assays used in its diagnosis (2006)
Kurien, B. T., Patel, N. C., Porter, A. C., D’Souza, A., Miller, D., Matsumoto, H., Wang, H., & Scofield, R. H.
Anal Biochem, 349(2): 165-175
[PMID#: 16298326]
Determination of prolidase activity using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (2004)
Kurien, B. T., Patel, N. C., Porter, A. C., Kurono, S., Matsumoto, H., Wang, H., & Scofield, R. H.
Anal Biochem, 331(2): 224-229
[PMID#: 15265726]
Pyruvate Kinase Deficiency
Health-related quality of life and fatigue in children and adults with pyruvate kinase deficiency (2022)
Al-Samkari, H., van Beers, E. J., Morton, D. H., Eber, S. W., Chonat, S., Kuo, K. H. M., Kollmar, N., Wang, H., Breakey, V. R., Sheth, S., Sharma, M., Forbes, P. W., Klaassen, R. J., & Grace, R. F.
Blood Adv, 6(6): 1844-1853
[PMID#: 34470054]
Pyruvate kinase deficiency in children (2021)
Chonat, S., Eber, S. W., Holzhauer, S., Kollmar, N., Morton, D. H., Glader, B., Neufeld, E. J., Yaish, H. M., Rothman, J. A., Sharma, M., Ravindranath, Y., Wang, H., Breakey, V. R., Sheth, S., Bradeen, H. A., Al-Sayegh, H., London, W. B., & Grace, R. F.
Pediatr Blood Cancer, 68(9): e29148
[PMID#: 34125488]
Characterization of the severe phenotype of pyruvate kinase deficiency (2020)
Al-Samkari, H., van Beers, E. J., Morton, D. H., Barcellini, W., Eber, S. W., Glader, B., Yaish, H. M., Chonat, S., Kuo, K. H. M., Kollmar, N., Despotovic, J. M., Pospisilova, D., Knoll, C. M., Kwiatkowski, J. L., Pastore, Y. D., Thompson, A. A., Wlodarski, M. W., Ravindranath, Y., Rothman, J. A., Wang, H., Holzhauer, S., Breakey, V. R., Verhovsek, M. M., Kunz, J., Sheth, S., Sharma, M., Rose, M. J., Bradeen, H. A., McNaull, M. N., Addonizio, K., Al-Sayegh, H., London, W. B., & Grace, R. F.
Am J Hematol, 95(10): E281-E285
[PMID#: 32619047]
Comorbidities and complications in adults with pyruvate kinase deficiency (2020)
Boscoe, A. N., Yan, Y., Hedgeman, E., van Beers, E. J., Al-Samkari, H., Barcellini, W., Eber, S. W., Glader, B., Yaish, H. M., Chonat, S., Sharma, M., Kuo, K. H. M., Neufeld, E. J., Wang, H., Verhovsek, M., Sheth, S., & Grace, R. F.
Eur J Haematol, 106(4): 484-492
[PMID#: 33370479]
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency (2020)
Bianchi, P., Fermo, E., Lezon-Geyda, K., van Beers, E. J., Morton, H. D., Barcellini, W., Glader, B., Chonat, S., Ravindranath, Y., Newburger, P. E., Kollmar, N., Despotovic, J. M., Verhovsek, M., Sharma, M., Kwiatkowski, J. L., Kuo, K. H. M., Wlodarski, M. W., Yaish, H. M., Holzhauer, S., Wang, H., Kunz, J., Addonizio, K., Al-Sayegh, H., London, W. B., Andres, O., van Wijk, R., Gallagher, P. G., & Grace, R. F. F.
Am J Hematol, 95(5): 472-482
[PMID#: 32043619]
The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency (2020)
Al-Samkari, H., Addonizio, K., Glader, B., Morton, D. H., Chonat, S., Thompson, A. A., Kuo, K. H. M., Ravindranath, Y., Wang, H., Rothman, J. A., Kwiatkowski, J. L., Kung, C., Kosinski, P. A., Al-Sayegh, H., London, W. B., & Grace, R. F.
Br J Haematol, 192(6): 1092-1096
[PMID#: 32463523]
Health related quality of life and fatigue in patients with Pyruvate Kinase Deficiency (2018)
van Beers, E. J., Kuo, K. H. M., Morton, D. H., Barcellini, W., Eber, S. W., Glader, B., Yaish, H. M., Chonat, S., Kollmar, N., Despotovic, J. M., Pospisilova, D., Knoll, C. M., Kwiatkowski, J. L., Pastore, Y. D., Thompson, A. A., Wang, W., Wlodarski, M. W., Newburger, P. E., Ravindranath, Y., Rothman, J. A., Wang, H., Holzhauer, S., Breakey, V. R., Verhovsek, M. M., Kunz, J. B., Sheth, S., Sharma, M., Rose, M. J., Bradeen, H. A., McNaull, M. A., Addonizio, K., Williams, D. N., & Grace, R. F.
Blood Adv, 132(1): 4807
[DOI: https://doi.org/10.1182/blood-2018-99-113206]
Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study (2018)
van Beers, E. J., van Straaten, S., Morton, D. H., Barcellini, W., Eber, S. W., Glader, B., Yaish, H. M., Chonat, S., Kwiatkowski, J. L., Rothman, J. A., Sharma, M., Neufeld, E. J., Sheth, S., Despotovic, J. M., Kollmar, N., Pospisilova, D., Knoll, C. M., Kuo, K., Pastore, Y. D., Thompson, A. A., Newburger, P. E., Ravindranath, Y., Wang, W. C., Wlodarski, M. W., Wang, H., Holzhauer, S., Breakey, V. R., Verhovsek, M., Kunz, J., McNaull, M. A., Rose, M. J., Bradeen, H. A., Addonizio, K., Li, A., Al Sayegh, H., London, W. B., & Grace, R. F.
Haematologica, 104(2): e51-e53
[PMID#: 30213831]
The clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study (2018)
Grace, R. F., Bianchi, P., van Beers, E. J., Eber, S. W., Glader, B., Yaish, H. M., Despotovic, J. M., Rothman, J. A., Sharma, M., McNaull, M. M., Fermo, E., Lezon-Geyda, K., Morton, D. H., Neufeld, E. J., Chonat, S., Kollmar, N., Knoll, C. M., Kuo, K., Kwiatkowski, J. L., Pospisilova, D., Pastore, Y. D., Thompson, A. A., Newburger, P. E., Ravindranath, Y., Wang, W. C., Wlodarski, M. W., Wang, H., Holzhauer, S., Breakey, V. R., Kunz, J., Sheth, S., Rose, M. J., Bradeen, H. A., Neu, N., Guo, D., AlSayegh, H., London, W. B., Gallagher, P. G., Zanella, A., & Barcellini, W.
Blood, 131(20): 2183-2192
[PMID#: 29549173]
SAMS Association
Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation (2017)
Henrickson, M., & Wang, H.
Clin Rheumatol, 36(6): 1445-1451
[PMID#: 28289923]
Aggressive CD8(+) epidermotropic cutaneous T-cell lymphoma associated with homozygous mutation in SAMHD1 (2015)
Merati, M., Buethe, D. J., Cooper, K. D., Honda, K. S., Wang, H., & Gerstenblith, M. R.
JAAD Case Rep, 1(4): 227-229
[PMID#: 27051737]
Central memory CD4+ T cells are preferential targets of double infection by HIV-1 (2015)
Haqqani, A. A., Marek, S. L., Kumar, J., Davenport, M., Wang, H., & Tilton, J. C.
Virol J, 12: 184
[PMID#: 26559763]
SAMHD1 Gene Mutations Are Associated with Cerebral Large-Artery Atherosclerosis (2015)
Li, W., Xin, B., Yan, J., Wu, Y., Hu, B., Liu, L., Wang, Y., Ahn, J., Skowronski, J., Zhang, Z., Wang, Y., & Wang, H.
Biomed Res Int, 2015: 739586
[PMID#: 26504826]
Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke (2011)
Xin, B., Jones, S., Puffenberger, E. G., Hinze, C., Bright, A., Tan, H., Zhou, A., Wu, G., Vargus-Adams, J., Agamanolis, D., & Wang, H.
Proc Natl Acad Sci USA, 108(13): 5372-5377
[PMID#: 21402907]
Reply to du Moulin et al.: Cerebral vasculopathy is a common hallmark in individuals with SAMHD1 mutations (2011)
Xin, B., Li, W., Bright, A., Hinze, C., & Wang, H.
Proc Natl Acad Sci USA, 108(26): E233
[DOI: https://doi.org/10.1073/pnas.1105431108]
Tatton-Brown-Rahman Syndrome
Tissue-Biased Expansion of DNMT3A-Mutant Clones in a Mosaic Individual Is Associated with Conserved Epigenetic Erosion (2020)
Tovy, A., Reyes, J. M., Gundry, M. C., Brunetti, L., Lee-Six, H., Petljak, M., Park, H. J., Guzman, A. G., Rosas, C., Jeffries, A. R., Baple, E., Mill, J., Crosby, A. H., Sency, V., Xin, B., Machado, H. E., Castillo, D., Weitzel, J. N., Li, W., Stratton, M. R., Campbell, P. J., Wang, H., Sanders, M. A., & Goodell, M. A.
Cell Stem Cell, 27(2): 326-335
[PMID#: 32673568]
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome (2016)
Xin, B., Cruz Marino, T., Szekely, J., Leblanc, J., Cechner, K., Sency, V., Wensel, C., Barabas, M., Therriault, V., & Wang, H.
Clin Genet, 91(4): 623-628
[PMID#: 27701732]
TMCO1 Defect Syndrome
From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1 (2021)
Batchelor-Regan, H., Xin, B., Zhou, A., & Wang, H.
Front Genet, 12: 652400
[PMID#: 34093650]
TMCO1 is an ER Ca2+ Load-Activated Ca2+ Channel (2016)
Wang, Q. C., Zheng, Q., Tan, H., Zhang, B., Li, X., Yang, Y., Yu, J., Liu, Y., Chai, H., Wang, X., Sun, Z., Wang, J. Q., Zhu, S., Wang, F., Yang, M., Guo, C., Wang, H., Zheng, Q., Li, Y., Chen, Q., Zhou, A., & Tang, T. S.
Cell, 165(6): 1454-1466
[PMID#: 27212239]
Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation (2010)
Xin, B., Puffenberger, E. G., Turben, S., Tan, H., Zhou, A., & Wang, H.
Proc Natl Acad Sci USA, 107(1): 258-263
[PMID#: 20018682]
Troyer Syndrome
Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism? (2008)
Bakowska, J. C., Wang, H., Xin, B., Sumner, C. J., & Blackstone, C.
Arch Neurol, 65(4): 520-524
[PMID#: 18413476]
Yoder Dystonia (Galloway-Mowat Syndrome)
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73 (2015)
Jinks, R. N., Puffenberger, E. G., Baple, E., Harding, B., Crino, P., Fogo, A. B., Wenger, O., Xin, B., Koehler, A. E., McGlincy, M. H., Provencher, M. M., Smith, J. D., Tran, L., Al Turki, S., Chioza, B. A., Cross, H., Harlalka, G. V., Hurles, M. E., Maroofian, R., Heaps, A. D., Morton, M. C., Stempak, L., Hildebrandt, F., Sadowski, C. E., Zaritsky, J., Campellone, K., Morton, D. H., Wang, H., Crosby, A., & Strauss, K. A
Brain, 138(8): 2173-2190
[PMID#: 26070982]