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Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation. J Inherit Metab Dis. 2023 03; 46(2):326-334.
Dang Do AN, Chang IJ, Jiang X, Wolfe LA, Ng BG, Lam C, Schnur RE, Allis K, Hansikova H, Ondruskova N, O'Connor SD, Sanchez-Valle A, Vollo A, Wang RY, Wolfenson Z, Perreault J, Ory DS, Freeze HH, Merritt JL, Porter FD. PMID: 36719165; PMCID: PMC10023375.
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PubMed Mentions: Fields:
Translation:
HumansCells
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CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease. Sci Rep. 2022 12 14; 12(1):21576.
Kan SH, Huang JY, Harb J, Rha A, Dalton ND, Christensen C, Chan Y, Davis-Turak J, Neumann J, Wang RY. PMID: 36517654; PMCID: PMC9751086.
View in:
PubMed Mentions:
1 Fields:
Translation:
HumansAnimals
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Structure of Hsp90-Hsp70-Hop-GR reveals the Hsp90 client-loading mechanism. Nature. 2022 01; 601(7893):460-464.
Wang RY, Noddings CM, Kirschke E, Myasnikov AG, Johnson JL, Agard DA. PMID: 34937942; PMCID: PMC9179170.
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PubMed Mentions:
36 Fields:
Translation:
HumansCells
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Structure of Hsp90-p23-GR reveals the Hsp90 client-remodelling mechanism. Nature. 2022 01; 601(7893):465-469.
Noddings CM, Wang RY, Johnson JL, Agard DA. PMID: 34937936; PMCID: PMC8994517.
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PubMed Mentions:
23 Fields:
Translation:
HumansCells
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To John M. Graham Jr, who called me into a career in clinical genetics. Am J Med Genet A. 2021 09; 185(9):2646-2648.
Wang RY. PMID: 33844456.
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PubMed Mentions: Fields:
Translation:
Humans
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Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1. Mol Genet Metab. 2020 12; 131(4):405-417.
Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Wang RY, Movsesyan N, Plummer E, Schaffer JE, Ory DS, Jiang X. PMID: 33257258; PMCID: PMC8139135.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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Can we take the pulse of environmental governance the way we take the pulse of nature? Applying the Freshwater Health Index in Latin America. Ambio. 2021 Apr; 50(4):870-883.
Vollmer D, Bezerra MO, Martínez NA, Ortiz OR, Encomenderos I, Marques MC, Serrano-Durán L, Fauconnier I, Wang RY. PMID: 33191485; PMCID: PMC7982359.
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PubMed Mentions:
2 Fields:
Translation:
PHPublic Health
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Corrigendum to "The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII" [Mol Genet Metab 2020 Mar;129(3):219-227]. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):285.
Wang RY, da Silva Franco JF, López-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz P. PMID: 32843286.
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PubMed Mentions: Fields:
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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis. 2020 11; 43(6):1333-1348.
Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG), Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH. PMID: 32681751; PMCID: PMC7722193.
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PubMed Mentions:
14 Fields:
Translation:
HumansCells
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CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness. Sci Rep. 2020 06 25; 10(1):10321.
Huang JY, Kan SH, Sandfeld EK, Dalton ND, Rangel AD, Chan Y, Davis-Turak J, Neumann J, Wang RY. PMID: 32587263; PMCID: PMC7316971.
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PubMed Mentions:
7 Fields:
Translation:
HumansAnimals
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Macromolecular modeling and design in Rosetta: recent methods and frameworks. Nat Methods. 2020 07; 17(7):665-680.
Leman JK, Weitzner BD, Lewis SM, Adolf-Bryfogle J, Alam N, Alford RF, Aprahamian M, Baker D, Barlow KA, Barth P, Basanta B, Bender BJ, Blacklock K, Bonet J, Boyken SE, Bradley P, Bystroff C, Conway P, Cooper S, Correia BE, Coventry B, Das R, De Jong RM, DiMaio F, Dsilva L, Dunbrack R, Ford AS, Frenz B, Fu DY, Geniesse C, Goldschmidt L, Gowthaman R, Gray JJ, Gront D, Guffy S, Horowitz S, Huang PS, Huber T, Jacobs TM, Jeliazkov JR, Johnson DK, Kappel K, Karanicolas J, Khakzad H, Khar KR, Khare SD, Khatib F, Khramushin A, King IC, Kleffner R, Koepnick B, Kortemme T, Kuenze G, Kuhlman B, Kuroda D, Labonte JW, Lai JK, Lapidoth G, Leaver-Fay A, Lindert S, Linsky T, London N, Lubin JH, Lyskov S, Maguire J, Malmström L, Marcos E, Marcu O, Marze NA, Meiler J, Moretti R, Mulligan VK, Nerli S, Norn C, Ó'Conchúir S, Ollikainen N, Ovchinnikov S, Pacella MS, Pan X, Park H, Pavlovicz RE, Pethe M, Pierce BG, Pilla KB, Raveh B, Renfrew PD, Burman SSR, Rubenstein A, Sauer MF, Scheck A, Schief W, Schueler-Furman O, Sedan Y, Sevy AM, Sgourakis NG, Shi L, Siegel JB, Silva DA, Smith S, Song Y, Stein A, Szegedy M, Teets FD, Thyme SB, Wang RY, Watkins A, Zimmerman L, Bonneau R. PMID: 32483333; PMCID: PMC7603796.
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PubMed Mentions:
203 Fields:
Translation:
Cells
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Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease. Orphanet J Rare Dis. 2020 03 17; 15(1):73.
Wang RY, Rudser KD, Dengel DR, Evanoff N, Steinberger J, Movsesyan N, Garrett R, Christensen K, Boylan D, Braddock SR, Shinawi M, Gan Q, Montaño AM. PMID: 32183856; PMCID: PMC7079365.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations. Int J Neonatal Screen. 2020 03; 6(1):22.
Wang RY. PMID: 33073019; PMCID: PMC7422979.
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PubMed Mentions:
2
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Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. Mol Genet Metab. 2020 04; 129(4):292-302.
Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Vite CH, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Bodamer O, Wang RY, Plummer E, Schaffer JE, Ory DS, Jiang X. PMID: 32033912; PMCID: PMC7145728.
View in:
PubMed Mentions:
14 Fields:
Translation:
HumansAnimals
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The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII. Mol Genet Metab. 2020 03; 129(3):219-227.
Wang RY, da Silva Franco JF, López-Valdez J, Martins E, Sutton VR, Whitley CB, Zhang L, Cimms T, Marsden D, Jurecka A, Harmatz P. PMID: 32063397.
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PubMed Mentions:
7 Fields:
Translation:
HumansCTClinical Trials
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Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population. JIMD Rep. 2019 Sep; 49(1):53-62.
Haller C, Song W, Cimms T, Chen CY, Whitley CB, Wang RY, Bauer M, Harmatz P. PMID: 31497482; PMCID: PMC6718107.
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PubMed Mentions:
6
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Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes. Mol Genet Metab. 2019 01; 126(1):53-63.
Simon MT, Eftekharian SS, Stover AE, Osborne AF, Braffman BH, Chang RC, Wang RY, Steenari MR, Tang S, Hwu PW, Taft RJ, Benke PJ, Abdenur JE. PMID: 30473481; PMCID: PMC7707637.
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PubMed Mentions:
14 Fields:
Translation:
Humans
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Structural basis of mitochondrial receptor binding and constriction by DRP1. Nature. 2018 06; 558(7710):401-405.
Kalia R, Wang RY, Yusuf A, Thomas PV, Agard DA, Shaw JM, Frost A. PMID: 29899447; PMCID: PMC6120343.
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PubMed Mentions:
129 Fields:
Translation:
HumansCells
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Ensuring food security with lower environmental costs under intensive agricultural land use patterns: A case study from China. J Environ Manage. 2018 May 01; 213:329-340.
Qi X, Wang RY, Li J, Zhang T, Liu L, He Y. PMID: 29502018.
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PubMed Mentions:
1 Fields:
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Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study. Genet Med. 2018 10; 20(10):1284-1294.
Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, Gibson JB, Hillman R, Stockton DW, Day JW, Wang RY, An Haack K, Shafi R, Sparks S, Zhao Y, Wilson C, Kishnani PS, Pompe ADVANCE Study Consortium. PMID: 29565424.
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PubMed Mentions:
11 Fields:
Translation:
HumansCTClinical Trials
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A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease. Mol Genet Metab. 2018 04; 123(4):488-494.
Harmatz P, Whitley CB, Wang RY, Bauer M, Song W, Haller C, Kakkis E. PMID: 29478819.
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PubMed Mentions:
25 Fields:
Translation:
HumansCTClinical Trials
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Integrating the social, hydrological and ecological dimensions of freshwater health: The Freshwater Health Index. Sci Total Environ. 2018 Jun 15; 627:304-313.
Vollmer D, Shaad K, Souter NJ, Farrell T, Dudgeon D, Sullivan CA, Fauconnier I, MacDonald GM, McCartney MP, Power AG, McNally A, Andelman SJ, Capon T, Devineni N, Apirumanekul C, Ng CN, Rebecca Shaw M, Wang RY, Lai C, Wang Z, Regan HM. PMID: 29426153.
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PubMed Mentions:
10 Fields:
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Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal Stenosis. JIMD Rep. 2018; 39:31-37.
Lew V, Pena L, Edwards R, Wang RY. PMID: 28702876; PMCID: PMC5953895.
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PubMed Mentions:
6
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The Carotid Intima-Media Thickness and Arterial Stiffness of Pediatric Mucopolysaccharidosis Patients Are Increased Compared to Both Pediatric and Adult Controls. Int J Mol Sci. 2017 Mar 15; 18(3).
Wang RY, Rudser KD, Dengel DR, Braunlin EA, Steinberger J, Jacobs DR, Sinaiko AR, Kelly AS. PMID: 28294991; PMCID: PMC5372650.
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PubMed Mentions:
4 Fields:
Translation:
Humans
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Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency. Mitochondrion. 2017 05; 34:84-90.
Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ, University of Washington Center for Mendelian Genomics, Van Hove JLK, Freeze HH, Abdenur JE. PMID: 28216230; PMCID: PMC5444868.
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PubMed Mentions:
11 Fields:
Translation:
HumansCells
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Aortic Root Dilatation in Mucopolysaccharidosis I-VII. Int J Mol Sci. 2016 Nov 29; 17(12).
Bolourchi M, Renella P, Wang RY. PMID: 27916847; PMCID: PMC5187804.
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PubMed Mentions:
18 Fields:
Translation:
Humans
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Automated structure refinement of macromolecular assemblies from cryo-EM maps using Rosetta. Elife. 2016 09 26; 5.
Wang RY, Song Y, Barad BA, Cheng Y, Fraser JS, DiMaio F. PMID: 27669148; PMCID: PMC5115868.
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PubMed Mentions:
209 Fields:
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Atomic structure of Hsp90-Cdc37-Cdk4 reveals that Hsp90 traps and stabilizes an unfolded kinase. Science. 2016 Jun 24; 352(6293):1542-7.
Verba KA, Wang RY, Arakawa A, Liu Y, Shirouzu M, Yokoyama S, Agard DA. PMID: 27339980; PMCID: PMC5373496.
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PubMed Mentions:
182 Fields:
Translation:
HumansAnimalsCells
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Immune-Mediated Inflammation May Contribute to the Pathogenesis of Cardiovascular Disease in Mucopolysaccharidosis Type I. PLoS One. 2016; 11(3):e0150850.
Khalid O, Vera MU, Gordts PL, Ellinwood NM, Schwartz PH, Dickson PI, Esko JD, Wang RY. PMID: 26986213; PMCID: PMC4795702.
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PubMed Mentions:
15 Fields:
Translation:
Animals
-
Structure prediction using sparse simulated NOE restraints with Rosetta in CASP11. Proteins. 2016 09; 84 Suppl 1:181-8.
Ovchinnikov S, Park H, Kim DE, Liu Y, Wang RY, Baker D. PMID: 26857542; PMCID: PMC5490372.
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PubMed Mentions:
9 Fields:
Translation:
Cells
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Improved de novo structure prediction in CASP11 by incorporating coevolution information into Rosetta. Proteins. 2016 09; 84 Suppl 1:67-75.
Ovchinnikov S, Kim DE, Wang RY, Liu Y, DiMaio F, Baker D. PMID: 26677056; PMCID: PMC5490371.
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PubMed Mentions:
58 Fields:
Translation:
HumansCells
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EMRinger: side chain-directed model and map validation for 3D cryo-electron microscopy. Nat Methods. 2015 Oct; 12(10):943-6.
Barad BA, Echols N, Wang RY, Cheng Y, DiMaio F, Adams PD, Fraser JS. PMID: 26280328; PMCID: PMC4589481.
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PubMed Mentions:
444 Fields:
Translation:
Cells
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Unique double-ring structure of the peroxisomal Pex1/Pex6 ATPase complex revealed by cryo-electron microscopy. Proc Natl Acad Sci U S A. 2015 Jul 28; 112(30):E4017-25.
Blok NB, Tan D, Wang RY, Penczek PA, Baker D, DiMaio F, Rapoport TA, Walz T. PMID: 26170309; PMCID: PMC4522808.
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PubMed Mentions:
41 Fields:
Translation:
AnimalsCells
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Can centralized sanctioning promote trust in social dilemmas? A two-level trust game with incomplete information. PLoS One. 2015; 10(4):e0124513.
Wang RY, Ng CN. PMID: 25879752; PMCID: PMC4400067.
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PubMed Mentions: Fields:
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Humans
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Structure of the type VI secretion system contractile sheath. Cell. 2015 Feb 26; 160(5):952-962.
Kudryashev M, Wang RY, Brackmann M, Scherer S, Maier T, Baker D, DiMaio F, Stahlberg H, Egelman EH, Basler M. PMID: 25723169; PMCID: PMC4359589.
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PubMed Mentions:
121 Fields:
Translation:
Cells
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De novo protein structure determination from near-atomic-resolution cryo-EM maps. Nat Methods. 2015 Apr; 12(4):335-8.
Wang RY, Kudryashev M, Li X, Egelman EH, Basler M, Cheng Y, Baker D, DiMaio F. PMID: 25707029; PMCID: PMC4435692.
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PubMed Mentions:
102 Fields:
Translation:
Cells
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Intra-articular enzyme replacement therapy with rhIDUA is safe, well-tolerated, and reduces articular GAG storage in the canine model of mucopolysaccharidosis type I. Mol Genet Metab. 2014 Aug; 112(4):286-93.
Wang RY, Aminian A, McEntee MF, Kan SH, Simonaro CM, Lamanna WC, Lawrence R, Ellinwood NM, Guerra C, Le SQ, Dickson PI, Esko JD. PMID: 24951454; PMCID: PMC4122635.
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PubMed Mentions:
7 Fields:
Translation:
HumansAnimalsCells
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Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study. J Inherit Metab Dis. 2014 Sep; 37(5):791-9.
Wang RY, Monuki ES, Powers J, Schwartz PH, Watkins PA, Shi Y, Moser A, Shrier DA, Waterham HR, Nugent DJ, Abdenur JE. PMID: 24619150; PMCID: PMC4332804.
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PubMed Mentions:
9 Fields:
Translation:
HumansCells
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Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass. World J Pediatr. 2014 Feb; 10(1):83-5.
Wang RY, Chang RC, Sowa ME, Chang AC, Abdenur JE. PMID: 24464670.
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PubMed Mentions:
1 Fields:
Translation:
Humans
-
Carotid intima-media thickness is increased in patients with treated mucopolysaccharidosis types I and II, and correlates with arterial stiffness. Mol Genet Metab. 2014 Feb; 111(2):128-32.
Wang RY, Braunlin EA, Rudser KD, Dengel DR, Metzig AM, Covault KK, Polgreen LE, Shapiro E, Steinberger J, Kelly AS. PMID: 24268528; PMCID: PMC3946737.
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PubMed Mentions:
13 Fields:
Translation:
Humans
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Severe, fatal multisystem manifestations in a patient with dolichol kinase-congenital disorder of glycosylation. Mol Genet Metab. 2013 Dec; 110(4):484-9.
Lieu MT, Ng BG, Rush JS, Wood T, Basehore MJ, Hegde M, Chang RC, Abdenur JE, Freeze HH, Wang RY. PMID: 24144945; PMCID: PMC3909743.
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PubMed Mentions:
10 Fields:
Translation:
HumansCells
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High-resolution comparative modeling with RosettaCM. Structure. 2013 Oct 08; 21(10):1735-42.
Song Y, DiMaio F, Wang RY, Kim D, Miles C, Brunette T, Thompson J, Baker D. PMID: 24035711; PMCID: PMC3811137.
View in:
PubMed Mentions:
552 Fields:
Translation:
Cells
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Joint effects of asymmetric payoff and reciprocity mechanisms on collective cooperation in water sharing interactions: a game theoretic perspective. PLoS One. 2013; 8(8):e73793.
Ng CN, Wang RY, Zhao T. PMID: 24015312; PMCID: PMC3755971.
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PubMed Mentions:
3 Fields:
Translation:
Humans
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A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome. JIMD Rep. 2013; 11:99-106.
Fan Y, Steller J, Gonzalez IL, Kulik W, Fox M, Chang R, Westerfield BA, Batra AS, Wang RY, Gallant NM, Pena LS, Wang H, Huang T, Bhuta S, Penny DJ, McCabe ER, Kimonis VE. PMID: 23606313; PMCID: PMC3755548.
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PubMed Mentions:
3
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Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. Hum Mutat. 2013 Mar; 34(3):446-52.
Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Ogata K, Goto Y, Matsumoto N. PMID: 23281071.
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PubMed Mentions:
45 Fields:
Translation:
HumansCells
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Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. Mol Genet Metab. 2012 May; 106(1):55-61.
Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. PMID: 22424739.
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PubMed Mentions:
28 Fields:
Translation:
HumansPHPublic Health
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Carotid intima-media thickness is increased in patients with mucopolysaccharidoses. Mol Genet Metab. 2011 Dec; 104(4):592-6.
Wang RY, Covault KK, Halcrow EM, Gardner AJ, Cao X, Newcomb RL, Dauben RD, Chang AC. PMID: 21963080; PMCID: PMC3924772.
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PubMed Mentions:
11 Fields:
Translation:
Humans
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Modeling disordered regions in proteins using Rosetta. PLoS One. 2011; 6(7):e22060.
Wang RY, Han Y, Krassovsky K, Sheffler W, Tyka M, Baker D. PMID: 21829444; PMCID: PMC3146542.
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PubMed Mentions:
16 Fields:
Translation:
HumansCells
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Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genet Med. 2011 May; 13(5):457-84.
Wang RY, Bodamer OA, Watson MS, Wilcox WR, ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. PMID: 21502868.
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PubMed Mentions:
74 Fields:
Translation:
Humans
-
Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II. Mol Genet Metab. 2009 Dec; 98(4):406-11.
Wang RY, Cambray-Forker EJ, Ohanian K, Karlin DS, Covault KK, Schwartz PH, Abdenur JE. PMID: 19748810.
View in:
PubMed Mentions:
17 Fields:
Translation:
Humans