Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 144


De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

Fan Y, Yin W, Hu B, Kline AD, Zhang VW, Liang D, Sun Y, Wang L, Tang S, Powis Z, Li L, Yan H, Shi Z, Yang X, Chen Y, Wang J, Jiang Y, Tan H, Gu X, Wu L, Yu Y.

Am J Hum Genet. 2018 Sep 6;103(3):448-455. doi: 10.1016/j.ajhg.2018.07.019. Epub 2018 Aug 16.


The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.

Wang L, Zhang VW, Li S, Li H, Sun Y, Li J, Zhu Y, He R, Lin J, Zhang C.

Orphanet J Rare Dis. 2018 Aug 14;13(1):133. doi: 10.1186/s13023-018-0859-6.


Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia.

Wang Z, Lin J, Qiao K, Cai S, Zhang VW, Zhao C, Lu J.

Eur J Med Genet. 2018 Jul 11. pii: S1769-7212(18)30266-0. doi: 10.1016/j.ejmg.2018.07.009. [Epub ahead of print]


Durable Remissions with Ivosidenib in IDH1-Mutated Relapsed or Refractory AML.

DiNardo CD, Stein EM, de Botton S, Roboz GJ, Altman JK, Mims AS, Swords R, Collins RH, Mannis GN, Pollyea DA, Donnellan W, Fathi AT, Pigneux A, Erba HP, Prince GT, Stein AS, Uy GL, Foran JM, Traer E, Stuart RK, Arellano ML, Slack JL, Sekeres MA, Willekens C, Choe S, Wang H, Zhang V, Yen KE, Kapsalis SM, Yang H, Dai D, Fan B, Goldwasser M, Liu H, Agresta S, Wu B, Attar EC, Tallman MS, Stone RM, Kantarjian HM.

N Engl J Med. 2018 Jun 21;378(25):2386-2398. doi: 10.1056/NEJMoa1716984. Epub 2018 Jun 2.


A direct tissue-grafting approach to increasing endogenous brown fat.

Blumenfeld NR, Kang HJ, Fenzl A, Song Z, Chung JJ, Singh R, Johnson R, Karakecili A, Feranil JB, Rossen NS, Zhang V, Jaggi S, McCarty B, Bessler S, Schwartz GJ, Grant R, Korner J, Kiefer FW, Gillette BM, Sia SK.

Sci Rep. 2018 May 21;8(1):7957. doi: 10.1038/s41598-018-25866-y.


A Rapid Combinatorial Approach to Assembling Synthetic Prokaryotic and Eukaryotic Protein Expression Vectors.

Mullinax R, Johns SE, Rhodes D, Zhang V, McKinney N, Felts KA, Carstens CP, Sheffield P.

Methods Mol Biol. 2018;1772:457-468. doi: 10.1007/978-1-4939-7795-6_27.


PGD2/DP2 receptor activation promotes severe viral bronchiolitis by suppressing IFN-λ production.

Werder RB, Lynch JP, Simpson JC, Zhang V, Hodge NH, Poh M, Forbes-Blom E, Kulis C, Smythe ML, Upham JW, Spann K, Everard ML, Phipps S.

Sci Transl Med. 2018 May 9;10(440). pii: eaao0052. doi: 10.1126/scitranslmed.aao0052.


Language development in deaf or hard-of-hearing children with additional disabilities: type matters!

Cupples L, Ching TYC, Leigh G, Martin L, Gunnourie M, Button L, Marnane V, Hou S, Zhang V, Flynn C, Van Buynder P.

J Intellect Disabil Res. 2018 Jun;62(6):532-543. doi: 10.1111/jir.12493.


[Recent immunological literature under scrutiny by master students].

Chassouros A, Essakhi A, Khiat A, Kouadri S, Tadjine A, Tadjine N, Ubeda P, Zhang V.

Med Sci (Paris). 2018 Mar;34(3):219-222. doi: 10.1051/medsci/20183403009. Epub 2018 Mar 16. French. No abstract available.


Neonatal intracranial aneurysms: case report and review of the literature.

Mohotti JE, Carter NS, Zhang VJW, Lai LT, Xenos C, Asadi H, Chandra RV.

J Neurosurg Pediatr. 2018 May;21(5):471-477. doi: 10.3171/2017.10.PEDS17226. Epub 2018 Mar 2.


Plasmacytoid dendritic cells protect from viral bronchiolitis and asthma through semaphorin 4a-mediated T reg expansion.

Lynch JP, Werder RB, Loh Z, Sikder MAA, Curren B, Zhang V, Rogers MJ, Lane K, Simpson J, Mazzone SB, Spann K, Hayball J, Diener K, Everard ML, Blyth CC, Forstner C, Dennis PG, Murtaza N, Morrison M, Ó Cuív P, Zhang P, Haque A, Hill GR, Sly PD, Upham JW, Phipps S.

J Exp Med. 2018 Feb 5;215(2):537-557. doi: 10.1084/jem.20170298. Epub 2017 Dec 22.


Hearing aid fitting and developmental outcomes of children fit according to either the NAL or DSL prescription: fit-to-target, audibility, speech and language abilities.

Ching TYC, Zhang VW, Johnson EE, Van Buynder P, Hou S, Burns L, Button L, Flynn C, McGhie K.

Int J Audiol. 2018 May;57(sup2):S41-S54. doi: 10.1080/14992027.2017.1380851. Epub 2017 Oct 3.


Chronic IL-33 expression predisposes to virus-induced asthma exacerbations by increasing type 2 inflammation and dampening antiviral immunity.

Werder RB, Zhang V, Lynch JP, Snape N, Upham JW, Spann K, Phipps S.

J Allergy Clin Immunol. 2018 May;141(5):1607-1619.e9. doi: 10.1016/j.jaci.2017.07.051. Epub 2017 Sep 22.


Spoken language and everyday functioning in 5-year-old children using hearing aids or cochlear implants.

Cupples L, Ching TY, Button L, Seeto M, Zhang V, Whitfield J, Gunnourie M, Martin L, Marnane V.

Int J Audiol. 2018 May;57(sup2):S55-S69. doi: 10.1080/14992027.2017.1370140. Epub 2017 Sep 12.


Factors influencing speech perception in noise for 5-year-old children using hearing aids or cochlear implants.

Ching TY, Zhang VW, Flynn C, Burns L, Button L, Hou S, McGhie K, Van Buynder P.

Int J Audiol. 2018 May;57(sup2):S70-S80. doi: 10.1080/14992027.2017.1346307. Epub 2017 Jul 7.


Probabilistic Invasion Underlies Natural Gut Microbiome Stability.

Obadia B, Güvener ZT, Zhang V, Ceja-Navarro JA, Brodie EL, Ja WW, Ludington WB.

Curr Biol. 2017 Jul 10;27(13):1999-2006.e8. doi: 10.1016/j.cub.2017.05.034. Epub 2017 Jun 15.


The Absence of Interferon-β Promotor Stimulator-1 (IPS-1) Predisposes to Bronchiolitis and Asthma-like Pathology in Response to Pneumoviral Infection in Mice.

Simpson J, Lynch JP, Loh Z, Zhang V, Werder RB, Spann K, Phipps S.

Sci Rep. 2017 May 24;7(1):2353. doi: 10.1038/s41598-017-02564-9.


Diabetes reversal by inhibition of the low-molecular-weight tyrosine phosphatase.

Stanford SM, Aleshin AE, Zhang V, Ardecky RJ, Hedrick MP, Zou J, Ganji SR, Bliss MR, Yamamoto F, Bobkov AA, Kiselar J, Liu Y, Cadwell GW, Khare S, Yu J, Barquilla A, Chung TDY, Mustelin T, Schenk S, Bankston LA, Liddington RC, Pinkerton AB, Bottini N.

Nat Chem Biol. 2017 Jun;13(6):624-632. doi: 10.1038/nchembio.2344. Epub 2017 Mar 27.


Corrigendum to "Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations." [Mol. Genet. Metab. (Aug 2016); 118(4): 264-71].

Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS.

Mol Genet Metab. 2017 Mar;120(3):295. doi: 10.1016/j.ymgme.2016.11.001. No abstract available.


Genetic evidence of 'genuine' empty follicle syndrome: a novel effective mutation in the LHCGR gene and review of the literature.

Yuan P, He Z, Zheng L, Wang W, Li Y, Zhao H, Zhang VW, Zhang Q, Yang D.

Hum Reprod. 2017 Apr 1;32(4):944-953. doi: 10.1093/humrep/dex015.


RAGE deficiency predisposes mice to virus-induced paucigranulocytic asthma.

Arikkatt J, Ullah MA, Short KR, Zhang V, Gan WJ, Loh Z, Werder RB, Simpson J, Sly PD, Mazzone SB, Spann KM, Ferreira MA, Upham JW, Sukkar MB, Phipps S.

Elife. 2017 Jan 18;6. pii: e21199. doi: 10.7554/eLife.21199.


Exosomes in Cancer Diagnostics.

Soung YH, Ford S, Zhang V, Chung J.

Cancers (Basel). 2017 Jan 12;9(1). pii: E8. doi: 10.3390/cancers9010008. Review.


Investigation of the role of flocculation conditions in recuperative thickening on dewatering performance and biogas production.

Cobbledick J, Zhang V, Rollings-Scattergood S, Latulippe DR.

Environ Technol. 2017 Nov;38(21):2650-2660. doi: 10.1080/09593330.2016.1272639. Epub 2017 Jan 4.


Stable Host Gene Expression in the Gut of Adult Drosophila melanogaster with Different Bacterial Mono-Associations.

Elya C, Zhang V, Ludington WB, Eisen MB.

PLoS One. 2016 Nov 29;11(11):e0167357. doi: 10.1371/journal.pone.0167357. eCollection 2016.


Measurement of neosaxitoxin in human plasma using liquid-chromatography tandem mass spectrometry: Proof of concept for a pharmacokinetic application.

Peake RW, Zhang VY, Azcue N, Hartigan CE, Shkreta A, Prabhakara J, Berde CB, Kellogg MD.

J Chromatogr B Analyt Technol Biomed Life Sci. 2016 Nov 15;1036-1037:42-49. doi: 10.1016/j.jchromb.2016.09.043. Epub 2016 Oct 1.


Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing.

Li J, Tang J, Feng Y, Xu M, Chen R, Zou X, Sui R, Chang EY, Lewis RA, Zhang VW, Wang J, Wong LC.

J Mol Diagn. 2016 Nov;18(6):817-824. doi: 10.1016/j.jmoldx.2016.06.007. Epub 2016 Sep 10.


FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome.

Dai H, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A, McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ.

Clin Genet. 2017 Apr;91(4):634-639. doi: 10.1111/cge.12894. Epub 2017 Jan 5.


The secret life of ground squirrels: accelerometry reveals sex-dependent plasticity in above-ground activity.

Williams CT, Wilsterman K, Zhang V, Moore J, Barnes BM, Buck CL.

R Soc Open Sci. 2016 Sep 28;3(9):160404. eCollection 2016 Sep.


Regulation of starvation-induced hyperactivity by insulin and glucagon signaling in adult Drosophila.

Yu Y, Huang R, Ye J, Zhang V, Wu C, Cheng G, Jia J, Wang L.

Elife. 2016 Sep 9;5. pii: e15693. doi: 10.7554/eLife.15693.


Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR.

J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16. Erratum in: J Allergy Clin Immunol. 2018 Feb;141(2):832.


Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

Yu H, Zhang VW, Stray-Pedersen A, Hanson IC, Forbes LR, de la Morena MT, Chinn IK, Gorman E, Mendelsohn NJ, Pozos T, Wiszniewski W, Nicholas SK, Yates AB, Moore LE, Berge KE, Sorte H, Bayer DK, ALZahrani D, Geha RS, Feng Y, Wang G, Orange JS, Lupski JR, Wang J, Wong LJ.

J Allergy Clin Immunol. 2016 Oct;138(4):1142-1151.e2. doi: 10.1016/j.jaci.2016.05.035. Epub 2016 Jul 12. Erratum in: J Allergy Clin Immunol. 2017 Jan;139(1):378.


The Combination of IV and Perineural Dexamethasone Prolongs the Analgesic Duration of Intercostal Nerve Blocks Compared with IV Dexamethasone Alone.

Maher DP, Serna-Gallegos D, Mardirosian R, Thomas OJ, Zhang X, McKenna R, Yumul R, Zhang V.

Pain Med. 2017 Jun 1;18(6):1152-1160. doi: 10.1093/pm/pnw149.


Correlation between Cyclin Dependent Kinases and Artemisinin-Induced Dormancy in Plasmodium falciparum In Vitro.

Gray KA, Gresty KJ, Chen N, Zhang V, Gutteridge CE, Peatey CL, Chavchich M, Waters NC, Cheng Q.

PLoS One. 2016 Jun 21;11(6):e0157906. doi: 10.1371/journal.pone.0157906. eCollection 2016.


Abnormal PTPN11 enhancer methylation promotes rheumatoid arthritis fibroblast-like synoviocyte aggressiveness and joint inflammation.

Maeshima K, Stanford SM, Hammaker D, Sacchetti C, Zeng LF, Ai R, Zhang V, Boyle DL, Aleman Muench GR, Feng GS, Whitaker JW, Zhang ZY, Wang W, Bottini N, Firestein GS.

JCI Insight. 2016 May 19;1(7). pii: e86580.


Aeroallergen-induced IL-33 predisposes to respiratory virus-induced asthma by dampening antiviral immunity.

Lynch JP, Werder RB, Simpson J, Loh Z, Zhang V, Haque A, Spann K, Sly PD, Mazzone SB, Upham JW, Phipps S.

J Allergy Clin Immunol. 2016 Nov;138(5):1326-1337. doi: 10.1016/j.jaci.2016.02.039. Epub 2016 Apr 25.


Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.

Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS.

Mol Genet Metab. 2016 Aug;118(4):264-71. doi: 10.1016/j.ymgme.2016.05.014. Epub 2016 May 20. Erratum in: Mol Genet Metab. 2017 Mar;120(3):295.


Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.

Tian X, Liang WC, Feng Y, Wang J, Zhang VW, Chou CH, Huang HD, Lam CW, Hsu YY, Lin TS, Chen WT, Wong LJ, Jong YJ.

Neurol Genet. 2015 Aug 13;1(2):e14. doi: 10.1212/NXG.0000000000000015. eCollection 2015 Aug.


Lab-scale demonstration of recuperative thickening technology for enhanced biogas production and dewaterability in anaerobic digestion processes.

Cobbledick J, Aubry N, Zhang V, Rollings-Scattergood S, Latulippe DR.

Water Res. 2016 May 15;95:39-47. doi: 10.1016/j.watres.2016.02.051. Epub 2016 Feb 26.


Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

Qin L, Wang J, Tian X, Yu H, Truong C, Mitchell JJ, Wierenga KJ, Craigen WJ, Zhang VW, Wong LC.

J Mol Diagn. 2016 May;18(3):446-453. doi: 10.1016/j.jmoldx.2016.01.002. Epub 2016 Mar 2.


Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.

Pupavac M, Tian X, Chu J, Wang G, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Watkins D, Wong LJ, Rosenblatt DS.

Mol Genet Metab. 2016 Mar;117(3):363-8. doi: 10.1016/j.ymgme.2016.01.008. Epub 2016 Jan 23.


ACSL4 promotes prostate cancer growth, invasion and hormonal resistance.

Wu X, Deng F, Li Y, Daniels G, Du X, Ren Q, Wang J, Wang LH, Yang Y, Zhang V, Zhang D, Ye F, Melamed J, Monaco ME, Lee P.

Oncotarget. 2015 Dec 29;6(42):44849-63. doi: 10.18632/oncotarget.6438.


Comprehensive Mitochondrial Genome Analysis by Massively Parallel Sequencing.

Palculict ME, Zhang VW, Wong LJ, Wang J.

Methods Mol Biol. 2016;1351:3-17. doi: 10.1007/978-1-4939-3040-1_1.


Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.

Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ.

Mol Genet Metab. 2015 Dec;116(4):252-9. doi: 10.1016/j.ymgme.2015.10.003. Epub 2015 Oct 17.


Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.

Wang J, Yu H, Zhang VW, Tian X, Feng Y, Wang G, Gorman E, Wang H, Lutz RE, Schmitt ES, Peacock S, Wong LJ.

Genet Med. 2016 May;18(5):513-21. doi: 10.1038/gim.2015.121. Epub 2015 Sep 24.


Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ.

Mol Genet Metab. 2015 Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011. Epub 2015 Sep 2.


Gallic Acid Is the Major Active Component of Cortex Moutan in Inhibiting Immune Maturation of Human Monocyte-Derived Dendritic Cells.

Chan BC, Li LF, Hu SQ, Wat E, Wong EC, Zhang VX, Lau CB, Wong CK, Hon KL, Hui PC, Leung PC.

Molecules. 2015 Sep 10;20(9):16388-403. doi: 10.3390/molecules200916388.


Single-molecule conductance in atomically precise germanium wires.

Su TA, Li H, Zhang V, Neupane M, Batra A, Klausen RS, Kumar B, Steigerwald ML, Venkataraman L, Nuckolls C.

J Am Chem Soc. 2015 Sep 30;137(38):12400-5. doi: 10.1021/jacs.5b08155. Epub 2015 Sep 16.


A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2.

Li J, Dai H, Feng Y, Tang J, Chen S, Tian X, Gorman E, Schmitt ES, Hansen TA, Wang J, Plon SE, Zhang VW, Wong LJ.

J Mol Diagn. 2015 Sep;17(5):545-53. doi: 10.1016/j.jmoldx.2015.04.001.


Integrated High Resolution Digital Color Light Sensor in 130 nm CMOS Technology.

Strle D, Nahtigal U, Batistell G, Zhang VC, Ofner E, Fant A, Sturm J.

Sensors (Basel). 2015 Jul 22;15(7):17786-807. doi: 10.3390/s150717786.

Supplemental Content

Support Center