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Items: 46

1.

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.

PMID:
30122539
2.

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.

3.

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]

PMID:
30006059
4.

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.

PMID:
28971727
5.

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.

PMID:
28687057
6.

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.

PMID:
28284539
7.

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.

PMID:
28175319
8.

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.

PMID:
27620828
9.

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.

PMID:
27743463
10.
11.

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.

12.

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.

PMID:
27484032
13.

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.

PMID:
27233228
14.

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.

15.

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.

PMID:
26944031
16.

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.

PMID:
26827111
17.

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.

PMID:
26530670
18.

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.

PMID:
26402642
19.

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.

20.

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.

PMID:
26320870
21.

Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases.

Yu H, Zhang VW.

Biomed Res Int. 2015;2015:745043. doi: 10.1155/2015/745043. Epub 2015 Jun 7. Review.

22.

Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis.

Bhoj EJ, Li M, Ahrens-Nicklas R, Pyle LC, Wang J, Zhang VW, Clarke C, Wong LJ, Sondheimer N, Ficicioglu C, Yudkoff M.

JIMD Rep. 2015;19:59-66. doi: 10.1007/8904_2014_364. Epub 2015 Feb 15.

23.

A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies.

Landsverk ML, Zhang VW, Wong LC, Andersson HC.

Mol Genet Metab Rep. 2014 Oct 14;1:451-454. eCollection 2014.

24.

Mutation Update for UBE3A variants in Angelman syndrome.

Sadikovic B, Fernandes P, Zhang VW, Ward PA, Miloslavskaya I, Rhead W, Rosenbaum R, Gin R, Roa B, Fang P.

Hum Mutat. 2014 Dec;35(12):1407-17. doi: 10.1002/humu.22687.

PMID:
25212744
25.

Aided cortical response, speech intelligibility, consonant perception and functional performance of young children using conventional amplification or nonlinear frequency compression.

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

Int J Pediatr Otorhinolaryngol. 2014 Oct;78(10):1692-700. doi: 10.1016/j.ijporl.2014.07.022. Epub 2014 Jul 23.

PMID:
25128447
26.

Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa.

Wang J, Zhang VW, Feng Y, Tian X, Li FY, Truong C, Wang G, Chiang PW, Lewis RA, Wong LJ.

Invest Ophthalmol Vis Sci. 2014 Aug 5;55(10):6213-23. doi: 10.1167/iovs.14-14936.

PMID:
25097241
27.

Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing.

Feng Y, Chen D, Wang GL, Zhang VW, Wong LJ.

Genet Med. 2015 Feb;17(2):99-107. doi: 10.1038/gim.2014.80. Epub 2014 Jul 17.

28.

A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.

Barboza-Cerda MC, Wong LJ, Martínez-de-Villarreal LE, Zhang VW, Déctor MA.

Am J Med Genet A. 2014 Jul;164A(7):1642-7. doi: 10.1002/ajmg.a.36508. Epub 2014 Apr 3.

PMID:
24700572
29.

Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing.

Yu H, van Karnebeek C, Sinclair G, Hill A, Cui H, Zhang VW, Wong LJ.

Mol Genet Metab. 2013 Dec;110(4):465-71. doi: 10.1016/j.ymgme.2013.09.018. Epub 2013 Oct 4.

PMID:
24140398
30.

Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.

Chanprasert S, Wang J, Weng SW, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):153-61. doi: 10.1016/j.ymgme.2013.07.009. Epub 2013 Jul 17.

PMID:
23932787
31.

Massively parallel sequencing for diagnosing clinically and genetically heterogeneous disorders.

Zhang VW.

Per Med. 2013 Aug;10(6):613-619. doi: 10.2217/pme.13.40.

PMID:
29776194
32.

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

Comeaux MS, Wang J, Wang G, Kleppe S, Zhang VW, Schmitt ES, Craigen WJ, Renaud D, Sun Q, Wong LJ.

Mol Genet Metab. 2013 Jul;109(3):260-8. doi: 10.1016/j.ymgme.2013.04.006. Epub 2013 Apr 17.

PMID:
23660394
33.

Response to the Letter to the Editor regarding "Neonatal otoacoustic emission screening and sudden infant death syndrome".

Chan RS, McPherson B, Zhang VW.

Int J Pediatr Otorhinolaryngol. 2013 Apr;77(4):614. doi: 10.1016/j.ijporl.2012.12.030. Epub 2013 Mar 7. No abstract available.

PMID:
23473708
34.

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Tang S, Wang J, Zhang VW, Li FY, Landsverk M, Cui H, Truong CK, Wang G, Chen LC, Graham B, Scaglia F, Schmitt ES, Craigen WJ, Wong LJ.

Hum Mutat. 2013 Jun;34(6):882-93. doi: 10.1002/humu.22307. Epub 2013 Apr 2.

PMID:
23463613
35.

Next-generation sequencing for disorders of low and high bone mineral density.

Sule G, Campeau PM, Zhang VW, Nagamani SC, Dawson BC, Grover M, Bacino CA, Sutton VR, Brunetti-Pierri N, Lu JT, Lemire E, Gibbs RA, Cohn DH, Cui H, Wong LJ, Lee BH.

Osteoporos Int. 2013 Aug;24(8):2253-9. doi: 10.1007/s00198-013-2290-0. Epub 2013 Feb 27.

36.

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.

Wang J, Cui H, Lee NC, Hwu WL, Chien YH, Craigen WJ, Wong LJ, Zhang VW.

Genet Med. 2013 Feb;15(2):106-14. doi: 10.1038/gim.2012.104. Epub 2012 Aug 16.

PMID:
22899091
37.

Neonatal otoacoustic emission screening and sudden infant death syndrome.

Chan RS, McPherson B, Zhang VW.

Int J Pediatr Otorhinolaryngol. 2012 Oct;76(10):1485-9. doi: 10.1016/j.ijporl.2012.06.029. Epub 2012 Jul 15.

PMID:
22796196
38.

Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene.

Massie R, Wang J, Chen LC, Zhang VW, Collins MP, Wong LJ, Milone M.

J Neurol Sci. 2012 Aug 15;319(1-2):158-63. doi: 10.1016/j.jns.2012.05.003. Epub 2012 May 24.

PMID:
22632780
39.

Diagnostic approaches to apparent homozygosity.

Landsverk ML, Douglas GV, Tang S, Zhang VW, Wang GL, Wang J, Wong LJ.

Genet Med. 2012 Oct;14(10):877-82. doi: 10.1038/gim.2012.58. Epub 2012 May 17.

PMID:
22595940
40.

An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience.

Wang J, Schmitt ES, Landsverk ML, Zhang VW, Li FY, Graham BH, Craigen WJ, Wong LJ.

Genet Med. 2012 Jun;14(6):620-6. doi: 10.1038/gim.2012.4. Epub 2012 Mar 8.

PMID:
22402757
41.

Determination of the clinical significance of an unclassified variant.

Zhang VW, Wang J.

Methods Mol Biol. 2012;837:337-48. doi: 10.1007/978-1-61779-504-6_23.

PMID:
22215559
42.

Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation.

Jones MA, Bhide S, Chin E, Ng BG, Rhodenizer D, Zhang VW, Sun JJ, Tanner A, Freeze HH, Hegde MR.

Genet Med. 2011 Nov;13(11):921-32. doi: 10.1097/GIM.0b013e318226fbf2.

43.

Detection improvement for neonatal click evoked otoacoustic emissions by time-frequency filtering.

Zhang VW, Zhang ZG, McPherson B, Hu Y, Hung YS.

Comput Biol Med. 2011 Aug;41(8):675-86. doi: 10.1016/j.compbiomed.2011.06.003. Epub 2011 Jun 23.

PMID:
21703604
44.

Time-frequency analysis of click-evoked otoacoustic emissions by means of a minimum variance spectral estimation-based method.

Zhang ZG, Zhang VW, Chan SC, McPherson B, Hu Y.

Hear Res. 2008 Sep;243(1-2):18-27. doi: 10.1016/j.heares.2008.07.002. Epub 2008 Jul 12.

PMID:
18662763
45.

Tone burst-evoked otoacoustic emissions in neonates: normative data.

Zhang VW, McPherson B, Zhang ZG.

BMC Ear Nose Throat Disord. 2008 Apr 17;8:3. doi: 10.1186/1472-6815-8-3.

46.

Neonatal hearing screening: a combined click evoked and tone burst otoacoustic emission approach.

Zhang VW, McPherson B, Shi BX, Tang JL, Wong BY.

Int J Pediatr Otorhinolaryngol. 2008 Mar;72(3):351-60. doi: 10.1016/j.ijporl.2007.11.010.

PMID:
18178260

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