LEE-JUN WONG

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
Houston, TX 77030
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    R21CA087327     (WONG, LEE-JUN C)Aug 11, 2000 - Jul 31, 2003
    NIH/NCI
    ROLE OF MITOCHONDRIAL DNA IN BREAST CANCER
    Role: Principal Investigator

    R01CA100023     (WONG, LEE-JUN C)Sep 1, 2004 - May 31, 2005
    NIH/NCI
    The Role of Mitochondrial DNA Alterations in Cancer
    Role: Principal Investigator

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Chern T, Achilleos A, Tong X, Hsu CW, Wong L, Poché RA. Mouse models to study the pathophysiology of combined methylmalonic acidemia and homocystinuria, cblC type. Dev Biol. 2020 Sep 14; 468(1-2):1-13. PMID: 32941884.
      Citations:    Fields:    
    2. Knight KM, Shelkowitz E, Larson AA, Mirsky DM, Wang Y, Chen T, Wong LJ, Friederich MW, Van Hove JLK. The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome. Mitochondrion. 2020 Sep 12; 55:8-13. PMID: 32931937.
      Citations:    Fields:    
    3. Wong LC, Chen T, Schmitt ES, Wang J, Tang S, Landsverk M, Li F, Zhang S, Wang Y, Zhang VW, Craigen WJ. Clinical and laboratory interpretation of mitochondrial mRNA variants. Hum Mutat. 2020 Jul 11. PMID: 32652755.
      Citations:    Fields:    
    4. Liang WC, Jong YJ, Wang CH, Wang CH, Tian X, Chen WZ, Kan TM, Minami N, Nishino I, Wong LC. Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy. Orphanet J Rare Dis. 2020 06 23; 15(1):160. PMID: 32576226.
      Citations:    Fields:    
    5. Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Correction: Interpretation of mitochondrial tRNA variants. Genet Med. 2020 Jun; 22(6):1130. PMID: 32269312.
      Citations:    Fields:    
    6. Gropman A, Uittenbogaard M, Brantner CA, Wang Y, Wong LJ, Chiaramello A. Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood. Mol Genet Metab Rep. 2020 Sep; 24:100609. PMID: 32489883.
      Citations:    
    7. Wong LC, Chen T, Schmitt ES, Wang J, Zhang S, Landsverk M, Li F, Tang S, Wang Y, Zhang VW, Craigen WJ. Response to Bai et al. Genet Med. 2020 Aug; 22(8):1420-1421. PMID: 32418988.
      Citations:    Fields:    
    8. Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Correction: Interpretation of mitochondrial tRNA variants. Genet Med. 2020 May; 22(5):979. PMID: 32132679.
      Citations:    Fields:    
    9. Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ. Interpretation of mitochondrial tRNA variants. Genet Med. 2020 May; 22(5):917-926. PMID: 31965079.
      Citations:    Fields:    
    10. Wang J, Rousseau J, Kim E, Ehresmann S, Cheng YT, Duraine L, Zuo Z, Park YJ, Li-Kroeger D, Bi W, Wong LJ, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya FS, Wierenga KJ, Chen J, Afenjar A, Nava C, Doummar D, Keren B, Juusola J, Grompe M, Bellen HJ, Campeau PM. Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction. Am J Hum Genet. 2019 12 05; 105(6):1237-1253. PMID: 31785787.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    11. Kaipparettu BA, Ma Y, Park JH, Lee TL, Zhang Y, Yotnda P, Creighton CJ, Chan WY, Wong LC. Correction: Crosstalk from Non-Cancerous Mitochondria Can Inhibit Tumor Properties of Metastatic Cells by Suppressing Oncogenic Pathways. PLoS One. 2019; 14(8):e0221671. PMID: 31437244.
      Citations: 1     Fields:    
    12. Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 Apr; 25(4):701-702. PMID: 30787481.
      Citations: 1     Fields:    
    13. Demirbas D, Harris DJ, Arn PH, Huang X, Waisbren SE, Anselm I, Lerner-Ellis JP, Wong LJ, Levy HL, Berry GT. Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. JIMD Rep. 2019 Mar; 46(1):63-69. PMID: 31240156.
      Citations:    
    14. Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM. Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019 03; 25(3):439-447. PMID: 30692697.
      Citations: 10     Fields:    Translation:Humans
    15. Uittenbogaard M, Wang H, Zhang VW, Wong LJ, Brantner CA, Gropman A, Chiaramello A. The nuclear background influences the penetrance of the near-homoplasmic m.1630 A?>?G MELAS variant in a symptomatic proband and asymptomatic mother. Mol Genet Metab. 2019 04; 126(4):429-438. PMID: 30709774.
      Citations: 4     Fields:    Translation:HumansCells
    16. Luo S, Valencia CA, Zhang J, Lee NC, Slone J, Gui B, Wang X, Li Z, Dell S, Brown J, Chen SM, Chien YH, Hwu WL, Fan PC, Wong LJ, Atwal PS, Huang T. Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments. Proc Natl Acad Sci U S A. 2019 02 05; 116(6):1823-1824. PMID: 30674682.
      Citations: 2     Fields:    Translation:HumansCells
    17. Luo S, Valencia CA, Zhang J, Lee NC, Slone J, Gui B, Wang X, Li Z, Dell S, Brown J, Chen SM, Chien YH, Hwu WL, Fan PC, Wong LJ, Atwal PS, Huang T. Biparental Inheritance of Mitochondrial DNA in Humans. Proc Natl Acad Sci U S A. 2018 12 18; 115(51):13039-13044. PMID: 30478036.
      Citations: 31     Fields:    Translation:HumansCells
    18. Almannai M, Wang J, Dai H, El-Hattab AW, Faqeih EA, Saleh MA, Al Asmari A, Alwadei AH, Aljadhai YI, AlHashem A, Tabarki B, Lines MA, Grange DK, Benini R, Alsaman AS, Mahmoud A, Katsonis P, Lichtarge O, Wong LC. FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance. Mol Genet Metab. 2018 11; 125(3):281-291. PMID: 30177229.
      Citations: 2     Fields:    Translation:HumansCells
    19. Dong J, Wong LJ, Mims MP. Mitochondrial inheritance and cancer. Transl Res. 2018 12; 202:24-34. PMID: 30044960.
      Citations: 2     Fields:    Translation:HumansAnimalsCells
    20. El-Hattab AW, Wang J, Wong LJ. Extra-muscular manifestations of TK2 deficiency. Mol Genet Metab Rep. 2018 Sep; 16:30. PMID: 30013933.
      Citations:    
    21. Uittenbogaard M, Brantner CA, Fang Z, Wong LJ, Gropman A, Chiaramello A. The m.11778 A?>?G variant associated with the coexistence of Leber's hereditary optic neuropathy and multiple sclerosis-like illness dysregulates the metabolic interplay between mitochondrial oxidative phosphorylation and glycolysis. Mitochondrion. 2019 05; 46:187-194. PMID: 29890302.
      Citations:    Fields:    Translation:HumansCells
    22. Wang J, Kim E, Dai H, Stefans V, Vogel H, Al Jasmi F, Schrier Vergano SA, Castro D, Bernes S, Bhambhani V, Long C, El-Hattab AW, Wong LJ. Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect. Mol Genet Metab. 2018 06; 124(2):124-130. PMID: 29735374.
      Citations: 6     Fields:    Translation:HumansCells
    23. Uittenbogaard M, Brantner CA, Fang Z, Wong LC, Gropman A, Chiaramello A. Novel insights into the functional metabolic impact of an apparent de novo m.8993T>G variant in the MT-ATP6 gene associated with maternally inherited form of Leigh Syndrome. Mol Genet Metab. 2018 05; 124(1):71-81. PMID: 29602698.
      Citations: 4     Fields:    Translation:HumansCells
    24. El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C, Alfadhel M, Gambello MJ, Prasun P, Raza S, Lyons HJ, Afqi M, Saleh MAM, Faqeih EA, Alzaidan HI, Alshenqiti A, Flore LA, Hertecant J, Sacharow S, Barbouth DS, Murayama K, Shah AA, Lin HC, Wong LC. MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects. Hum Mutat. 2018 04; 39(4):461-470. PMID: 29282788.
      Citations: 4     Fields:    Translation:HumansCells
    25. Xi J, Yan C, Liu WW, Qiao K, Lin J, Tian X, Wu H, Lu J, Wong LJ, Beeson D, Zhao C. Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome. Orphanet J Rare Dis. 2017 12 19; 12(1):182. PMID: 29258548.
      Citations: 6     Fields:    Translation:HumansCells
    26. Bacalhau M, Simões M, Rocha MC, Hardy SA, Vincent AE, Durães J, Macário MC, Santos MJ, Rebelo O, Lopes C, Pratas J, Mendes C, Zuzarte M, Rego AC, Girão H, Wong LC, Taylor RW, Grazina M. Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant. Neuromuscul Disord. 2018 04; 28(4):350-360. PMID: 29398297.
      Citations: 1     Fields:    Translation:HumansCells
    27. Sadikovic B, Wang J, El-Hattab AW, Landsverk M, Douglas G, Brundage EK, Craigen WJ, Schmitt ES, Wong LC. Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes. PLoS One. 2017; 12(11):e0188610. PMID: 29155871.
      Citations:    Fields:    
    28. Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie Helmut Fuchs SM, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Nutter SNLMJ, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, Wurst W, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SDM, Adams DJ, Lloyd KCK, McKerlie C, Beaudet AL, Murray MBSA. Corrigendum: High-throughput discovery of novel developmental phenotypes. Nature. 2017 11 16; 551(7680):398. PMID: 29144450.
      Citations: 1     Fields:    
    29. Akinrotimi O, Riessen R, VanDuyne P, Park JE, Lee YK, Wong LJ, Zavacki AM, Schoonjans K, Anakk S. Small heterodimer partner deletion prevents hepatic steatosis and when combined with farnesoid X receptor loss protects against type 2 diabetes in mice. Hepatology. 2017 12; 66(6):1854-1865. PMID: 28586124.
      Citations: 6     Fields:    Translation:Animals
    30. El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC. Molecular and clinical spectra of FBXL4 deficiency. Hum Mutat. 2017 12; 38(12):1649-1659. PMID: 28940506.
      Citations: 10     Fields:    Translation:HumansCells
    31. Liang WC, Tian X, Yuo CY, Chen WZ, Kan TM, Su YN, Nishino I, Wong LC, Jong YJ. Correction: Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. PLoS One. 2017; 12(8):e0183406. PMID: 28797072.
      Citations:    Fields:    
    32. Yuan Z, Li B, Xu M, Chang EY, Li H, Yang L, Wu S, Soens ZT, Li Y, Wong LC, Lewis RA, Sui R, Chen R. The phenotypic variability of HK1-associated retinal dystrophy. Sci Rep. 2017 08 01; 7(1):7051. PMID: 28765615.
      Citations: 3     Fields:    
    33. Tsai AC, Hung YW, Harding C, Koeller DM, Wang J, Wong LC. Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease. . 2017 Sep; 173(9):2500-2504. PMID: 28657663.
      Citations:    
    34. Kartvelishvili E, Tworowski D, Vernon H, Moor N, Wang J, Wong LJ, Chrzanowska-Lightowlers Z, Safro M. Kinetic and structural changes in HsmtPheRS, induced by pathogenic mutations in human FARS2. Protein Sci. 2017 Aug; 26(8):1505-1516. PMID: 28419689.
      Citations: 2     Fields:    Translation:HumansCells
    35. Patel DR, Yu H, Wong LC, Lupski JR, Seeborg FO, Rider NL, Martinez CA, Orange JS, Hanson C. Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report. J Allergy Clin Immunol Pract. 2017 Sep - Oct; 5(5):1442-1444. PMID: 28438538.
      Citations: 2     Fields:    Translation:HumansPHPublic Health
    36. Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS. 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]. Mol Genet Metab. 2017 03; 120(3):295. PMID: 28284539.
      Citations:    Fields:    
    37. Liang WC, Tian X, Yuo CY, Chen WZ, Kan TM, Su YN, Nishino I, Wong LC, Jong YJ. Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. PLoS One. 2017; 12(2):e0170517. PMID: 28182637.
      Citations: 4     Fields:    Translation:Humans
    38. Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med. 2017 08; 19(8):936-944. PMID: 28125085.
      Citations: 6     Fields:    Translation:Humans
    39. Chen TH, Tian X, Kuo PL, Pan HP, Wong LC, Jong YJ. Identification of KLHL40 mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequence. Prenat Diagn. 2016 Dec; 36(12):1135-1138. PMID: 27762439.
      Citations: 2     Fields:    Translation:Humans
    40. Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT. Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. Mol Genet Metab. 2017 03; 120(3):213-222. PMID: 27913098.
      Citations: 9     Fields:    Translation:Humans
    41. Eldomery MK, Akdemir ZC, Vögtle FN, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, Tang J, Medikonda R, Ramachandran PV, Wong LJ, Boerwinkle E, Gibbs RA, Eng CM, Lalani SR, Hertecant J, Rodenburg RJ, Abdul-Rahman OA, Yang Y, Xia F, Wang MC, Lupski JR, Meisinger C, Sutton VR. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death. Genome Med. 2016 11 01; 8(1):106. PMID: 27799064.
      Citations: 5     Fields:    Translation:HumansCells
    42. Wang X, Feng Y, Li J, Zhang W, Wang J, Lewis RA, Wong LJ. Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis. PLoS One. 2016; 11(10):e0165405. PMID: 27788217.
      Citations: 1     Fields:    Translation:Humans
    43. Hsu CW, Wong L, Rasmussen TL, Kalaga S, McElwee ML, Keith LC, Bohat R, Seavitt JR, Beaudet AL, Dickinson ME. Three-dimensional microCT imaging of mouse development from early post-implantation to early postnatal stages. Dev Biol. 2016 11 15; 419(2):229-236. PMID: 27671873.
      Citations: 10     Fields:    Translation:Animals
    44. Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bucan M, Murray SA. High-throughput discovery of novel developmental phenotypes. Nature. 2016 09 22; 537(7621):508-514. PMID: 27626380.
      Citations: 169     Fields:    Translation:HumansAnimalsCells
    45. Li J, Tang J, Feng Y, Xu M, Chen R, Zou X, Sui R, Chang EY, Lewis RA, Zhang VW, Wang J, Wong LC. Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing. J Mol Diagn. 2016 11; 18(6):817-824. PMID: 27620828.
      Citations: 6     Fields:    Translation:HumansCells
    46. Scott DA, Hernandez-Garcia A, Azamian MS, Jordan VK, Kim BJ, Starkovich M, Zhang J, Wong LJ, Darilek SA, Breman AM, Yang Y, Lupski JR, Jiwani AK, Das B, Lalani SR, Iglesias AD, Rosenfeld JA, Xia F. Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. J Med Genet. 2017 01; 54(1):47-53. PMID: 27550220.
      Citations: 1     Fields:    Translation:Humans
    47. 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. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245. PMID: 27577878.
      Citations: 48     Fields:    Translation:Humans
    48. 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. Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing. J Allergy Clin Immunol. 2016 10; 138(4):1142-1151.e2. PMID: 27484032.
      Citations: 17     Fields:    Translation:Humans
    49. Chu J, Pupavac M, Watkins D, Tian X, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Wong LJ, Rosenblatt DS. Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations. Mol Genet Metab. 2016 08; 118(4):264-71. PMID: 27233228.
      Citations: 1     Fields:    Translation:HumansCells
    50. Zhang J, Lachance V, Schaffner A, Li X, Fedick A, Kaye LE, Liao J, Rosenfeld J, Yachelevich N, Chu ML, Mitchell WG, Boles RG, Moran E, Tokita M, Gorman E, Bagley K, Zhang W, Xia F, Leduc M, Yang Y, Eng C, Wong LJ, Schiffmann R, Diaz GA, Kornreich R, Thummel R, Wasserstein M, Yue Z, Edelmann L. A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. PLoS Genet. 2016 Apr; 12(4):e1005848. PMID: 27120463.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    51. Liewluck T, Milone M, Tian X, Engel AG, Staff NP, Wong LJ. Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations. Muscle Nerve. 2016 06; 53(6):984-8. PMID: 26802438.
      Citations: 4     Fields:    Translation:Humans
    52. Qin L, Wang J, Tian X, Yu H, Truong C, Mitchell JJ, Wierenga KJ, Craigen WJ, Zhang VW, Wong LC. Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing. J Mol Diagn. 2016 05; 18(3):446-453. PMID: 26944031.
      Citations: 10     Fields:    Translation:HumansCells
    53. Park JH, Vithayathil S, Kumar S, Sung PL, Dobrolecki LE, Putluri V, Bhat VB, Bhowmik SK, Gupta V, Arora K, Wu D, Tsouko E, Zhang Y, Maity S, Donti TR, Graham BH, Frigo DE, Coarfa C, Yotnda P, Putluri N, Sreekumar A, Lewis MT, Creighton CJ, Wong LC, Kaipparettu BA. Fatty Acid Oxidation-Driven Src Links Mitochondrial Energy Reprogramming and Oncogenic Properties in Triple-Negative Breast Cancer. Cell Rep. 2016 Mar 08; 14(9):2154-2165. PMID: 26923594.
      Citations: 56     Fields:    Translation:HumansAnimalsCells
    54. Poché RA, Zhang M, Rueda EM, Tong X, McElwee ML, Wong L, Hsu CW, Dejosez M, Burns AR, Fox DA, Martin JF, Zwaka TP, Dickinson ME. RONIN Is an Essential Transcriptional Regulator of Genes Required for Mitochondrial Function in the Developing Retina. Cell Rep. 2016 Feb 23; 14(7):1684-1697. PMID: 26876175.
      Citations: 8     Fields:    Translation:AnimalsCells
    55. Pupavac M, Tian X, Chu J, Wang G, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Watkins D, Wong LJ, Rosenblatt DS. 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. Mol Genet Metab. 2016 Mar; 117(3):363-8. PMID: 26827111.
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    56. Xu M, Eblimit A, Wang J, Li J, Wang F, Zhao L, Wang X, Xiao N, Li Y, Wong LJ, Lewis RA, Chen R. ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. Hum Mutat. 2016 Mar; 37(3):246-9. PMID: 26662040.
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    57. Palculict ME, Zhang VW, Wong LJ, Wang J. Comprehensive Mitochondrial Genome Analysis by Massively Parallel Sequencing. Methods Mol Biol. 2016; 1351:3-17. PMID: 26530670.
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    58. Burrage LC, Miller MJ, Wong LJ, Kennedy AD, Sutton VR, Sun Q, Elsea SH, Graham BH. Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma. J Pediatr. 2016 Feb; 169:208-13.e2. PMID: 26602010.
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    59. 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. Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide. Mol Genet Metab. 2015 Dec; 116(4):252-9. PMID: 26490222.
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    60. Wang J, Yu H, Zhang VW, Tian X, Feng Y, Wang G, Gorman E, Wang H, Lutz RE, Schmitt ES, Peacock S, Wong LJ. Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types. Genet Med. 2016 05; 18(5):513-21. PMID: 26402642.
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    61. 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. Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. Mol Genet Metab. 2015 Nov; 116(3):139-45. PMID: 26385305.
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    62. 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. A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2. J Mol Diagn. 2015 Sep; 17(5):545-53. PMID: 26320870.
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    63. 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. Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurol Genet. 2015 Aug; 1(2):e14. PMID: 27066551.
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    64. Gargis AS, Kalman L, Bick DP, da Silva C, Dimmock DP, Funke BH, Gowrisankar S, Hegde MR, Kulkarni S, Mason CE, Nagarajan R, Voelkerding KV, Worthey EA, Aziz N, Barnes J, Bennett SF, Bisht H, Church DM, Dimitrova Z, Gargis SR, Hafez N, Hambuch T, Hyland FC, Luna RA, MacCannell D, Mann T, McCluskey MR, McDaniel TK, Ganova-Raeva LM, Rehm HL, Reid J, Campo DS, Resnick RB, Ridge PG, Salit ML, Skums P, Wong LJ, Zehnbauer BA, Zook JM, Lubin IM. Good laboratory practice for clinical next-generation sequencing informatics pipelines. Nat Biotechnol. 2015 Jul; 33(7):689-93. PMID: 26154004.
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    65. Zhou S, Hertel PM, Finegold MJ, Wang L, Kerkar N, Wang J, Wong LJ, Plon SE, Sambrotta M, Foskett P, Niu Z, Thompson RJ, Knisely AS. Hepatocellular carcinoma associated with tight-junction protein 2 deficiency. Hepatology. 2015 Dec; 62(6):1914-6. PMID: 25921221.
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    66. Liewluck T, Tian X, Wong LJ, Pestronk A. Dystrophinopathy mimicking metabolic myopathies. Neuromuscul Disord. 2015 Aug; 25(8):653-7. PMID: 25998609.
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    67. Kassardjian CD, Tian X, Vladutiu G, Wong LJ, Milone M. Myopathy during treatment with the antianginal drug ranolazine. J Neurol Sci. 2014 Dec 15; 347(1-2):380-2. PMID: 25466697.
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    68. Landsverk ML, Zhang VW, Wong LC, Andersson HC. A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies. Mol Genet Metab Rep. 2014; 1:451-454. PMID: 27896121.
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    69. Kazamel M, Wong LJ, Milone M. Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility. Mol Genet Metab Rep. 2014; 1:443-445. PMID: 27896119.
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    70. Hiniker A, Wong LJ, Berven S, Truong CK, Adesina AM, Margeta M. Axial mitochondrial myopathy in a patient with rapidly progressive adult-onset scoliosis. Acta Neuropathol Commun. 2014 Sep 16; 2:137. PMID: 25223649.
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    71. Tannour-Louet M, York B, Tang K, Stashi E, Bouguerra H, Zhou S, Yu H, Wong LJ, Stevens RD, Xu J, Newgard CB, O'Malley BW, Louet JF. Hepatic SRC-1 activity orchestrates transcriptional circuitries of amino acid pathways with potential relevance for human metabolic pathogenesis. Mol Endocrinol. 2014 Oct; 28(10):1707-18. PMID: 25148457.
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    72. Wang J, Zhang VW, Feng Y, Tian X, Li FY, Truong C, Wang G, Chiang PW, Lewis RA, Wong LJ. Dependable and efficient clinical utility of target capture-based deep sequencing in molecular diagnosis of retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 Aug 05; 55(10):6213-23. PMID: 25097241.
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    73. Feng Y, Chen D, Wang GL, Zhang VW, Wong LJ. Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing. Genet Med. 2015 Feb; 17(2):99-107. PMID: 25032985.
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    74. Burrage LC, Tang S, Wang J, Donti TR, Walkiewicz M, Luchak JM, Chen LC, Schmitt ES, Niu Z, Erana R, Hunter JV, Graham BH, Wong LJ, Scaglia F. Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene. Mol Genet Metab. 2014 Nov; 113(3):207-12. PMID: 25037980.
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    75. Shaibani A, Wong LJ, Wei Zhang V, Lewis RA, Shinawi M. Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. Int J Neurosci. 2015 Jan; 125(1):43-9. PMID: 24628582.
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    76. Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS. Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology. 2014 Jun 10; 82(23):2063-71. PMID: 24808023.
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    77. Barboza-Cerda MC, Wong LJ, Martínez-de-Villarreal LE, Zhang VW, Déctor MA. A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2. . 2014 Jul; 164A(7):1642-7. PMID: 24700572.
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    78. Zhang W, Cui H, Wong LJ. Application of next generation sequencing to molecular diagnosis of inherited diseases. Top Curr Chem. 2014; 336:19-45. PMID: 22576358.
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    79. Granadillo JL, Moss T, Lewis RA, Austin EG, Kelfer H, Wang J, Wong LJ, Scaglia F. Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TW. Mol Genet Metab Rep. 2014; 1:61-65. PMID: 25302159.
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    80. Balmer C, Pandey AV, Rüfenacht V, Nuoffer JM, Fang P, Wong LJ, Häberle J. Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. Hum Mutat. 2014 Jan; 35(1):27-35. PMID: 24166829.
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    81. Simon M, Chang RC, Bali DS, Wong LJ, Peng Y, Abdenur JE. Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia. JIMD Rep. 2014; 14:29-35. PMID: 24272679.
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    82. Milone M, Klassen BT, Landsverk ML, Haas RH, Wong LJ. Orthostatic tremor, progressive external ophthalmoplegia, and Twinkle. JAMA Neurol. 2013 Nov; 70(11):1429-31. PMID: 24061067.
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    83. Yu H, van Karnebeek C, Sinclair G, Hill A, Cui H, Zhang VW, Wong LJ. Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing. Mol Genet Metab. 2013 Dec; 110(4):465-71. PMID: 24140398.
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    84. Helbling D, Buchaklian A, Wang J, Wong LJ, Dimmock D. Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure. J Pediatr Gastroenterol Nutr. 2013 Oct; 57(4):438-43. PMID: 23783014.
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    85. Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013 Sep 05; 93(3):471-81. PMID: 23993193.
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    86. Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet. 2013 Sep 05; 93(3):482-95. PMID: 23993194.
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    87. Craigen WJ, Graham BH, Wong LJ, Scaglia F, Lewis RA, Bonnen PE. Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology. BMC Med Genet. 2013 Aug 16; 14:83. PMID: 23947751.
      Citations: 7     Fields:    Translation:Humans
    88. 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. Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):153-61. PMID: 23932787.
      Citations: 6     Fields:    Translation:Humans
    89. Milone M, Wong LJ. Diagnosis of mitochondrial myopathies. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):35-41. PMID: 23911206.
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    90. Kaipparettu BA, Ma Y, Park JH, Lee TL, Zhang Y, Yotnda P, Creighton CJ, Chan WY, Wong LJ. Crosstalk from non-cancerous mitochondria can inhibit tumor properties of metastatic cells by suppressing oncogenic pathways. PLoS One. 2013; 8(5):e61747. PMID: 23671572.
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    91. Comeaux MS, Wang J, Wang G, Kleppe S, Zhang VW, Schmitt ES, Craigen WJ, Renaud D, Sun Q, Wong LJ. Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. Mol Genet Metab. 2013 Jul; 109(3):260-8. PMID: 23660394.
      Citations: 4     Fields:    Translation:HumansCells
    92. 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. Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. Hum Mutat. 2013 Jun; 34(6):882-93. PMID: 23463613.
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    93. Wong LJ. Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratories. Neurotherapeutics. 2013 Apr; 10(2):262-72. PMID: 23269496.
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    94. Wong LJ. Next generation molecular diagnosis of mitochondrial disorders. Mitochondrion. 2013 Jul; 13(4):379-87. PMID: 23473862.
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    95. Cui H, Li F, Chen D, Wang G, Truong CK, Enns GM, Graham B, Milone M, Landsverk ML, Wang J, Zhang W, Wong LJ. Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders. Genet Med. 2013 May; 15(5):388-94. PMID: 23288206.
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    96. Wang J, Cui H, Lee NC, Hwu WL, Chien YH, Craigen WJ, Wong LJ, Zhang VW. Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. Genet Med. 2013 Feb; 15(2):106-14. PMID: 22899091.
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    97. Zhang W, Cui H, Wong LJ. Comprehensive one-step molecular analyses of mitochondrial genome by massively parallel sequencing. Clin Chem. 2012 Sep; 58(9):1322-31. PMID: 22777720.
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    98. Massie R, Wang J, Chen LC, Zhang VW, Collins MP, Wong LJ, Milone M. Mitochondrial myopathy due to novel missense mutation in the cytochrome c oxidase 1 gene. J Neurol Sci. 2012 Aug 15; 319(1-2):158-63. PMID: 22632780.
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    99. Landsverk ML, Douglas GV, Tang S, Zhang VW, Wang GL, Wang J, Wong LJ. Diagnostic approaches to apparent homozygosity. Genet Med. 2012 Oct; 14(10):877-82. PMID: 22595940.
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    100. York B, Reineke EL, Sagen JV, Nikolai BC, Zhou S, Louet JF, Chopra AR, Chen X, Reed G, Noebels J, Adesina AM, Yu H, Wong LJ, Tsimelzon A, Hilsenbeck S, Stevens RD, Wenner BR, Ilkayeva O, Xu J, Newgard CB, O'Malley BW. Ablation of steroid receptor coactivator-3 resembles the human CACT metabolic myopathy. Cell Metab. 2012 May 02; 15(5):752-63. PMID: 22560224.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    101. Lee IC, El-Hattab AW, Wang J, Li FY, Weng SW, Craigen WJ, Wong LJ. SURF1-associated Leigh syndrome: a case series and novel mutations. Hum Mutat. 2012 Aug; 33(8):1192-200. PMID: 22488715.
      Citations: 9     Fields:    Translation:Humans
    102. Arnold GL, Salazar D, Neidich JA, Suwannarat P, Graham BH, Lichter-Konecki U, Bosch AM, Cusmano-Ozog K, Enns G, Wright EL, Lanpher BC, Owen NN, Lipson MH, Cerone R, Levy P, Wong LJ, Dezsofi A. Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening. Mol Genet Metab. 2012 Aug; 106(4):439-41. PMID: 22658692.
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    103. Wang J, Zhan H, Li FY, Pursley AN, Schmitt ES, Wong LJ. Targeted array CGH as a valuable molecular diagnostic approach: experience in the diagnosis of mitochondrial and metabolic disorders. Mol Genet Metab. 2012 Jun; 106(2):221-30. PMID: 22494545.
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    104. Wong LJ. Mitochondrial syndromes with leukoencephalopathies. Semin Neurol. 2012 Feb; 32(1):55-61. PMID: 22422207.
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    105. Wang J, Schmitt ES, Landsverk ML, Zhang VW, Li FY, Graham BH, Craigen WJ, Wong LJ. An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience. Genet Med. 2012 Jun; 14(6):620-6. PMID: 22402757.
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    106. Bekheirnia MR, Zhang W, Eble T, Willis A, Shaibani A, Wong LJ, Scaglia F, Dhar SU. POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. Gene. 2012 May 10; 499(1):209-12. PMID: 22405928.
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    107. Schrier SA, Wong LJ, Place E, Ji JQ, Pierce EA, Golden J, Santi M, Anninger W, Falk MJ. Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts. Discov Med. 2012 Feb; 13(69):143-50. PMID: 22369973.
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    108. El-Hattab AW, Hsu JW, Emrick LT, Wong LJ, Craigen WJ, Jahoor F, Scaglia F. Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. Mol Genet Metab. 2012 Apr; 105(4):607-14. PMID: 22325939.
      Citations: 33     Fields:    Translation:Humans
    109. Lu MY, Huang JF, Liao YC, Bai RK, Trieu RB, Chuang WL, Yu ML, Juo SH, Wong LJ. Mitochondrial polymorphism 12361A>G is associated with nonalcoholic fatty liver disease. Transl Res. 2012 Jan; 159(1):58-9. PMID: 22153811.
      Citations: 3     Fields:    Translation:Humans
    110. Milone M, Benarroch EE, Wong LJ. POLG-related disorders: defects of the nuclear and mitochondrial genome interaction. Neurology. 2011 Nov 15; 77(20):1847-52. PMID: 22084276.
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    111. Mudd SH, Wagner C, Luka Z, Stabler SP, Allen RH, Schroer R, Wood T, Wang J, Wong LJ. Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine. Mol Genet Metab. 2012 Feb; 105(2):228-36. PMID: 22137549.
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    112. Douglas GV, Wiszniewska J, Lipson MH, Witt DR, McDowell T, Sifry-Platt M, Hirano M, Craigen WJ, Wong LJ. Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. J Hum Genet. 2011 Dec; 56(12):834-9. PMID: 22011815.
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    113. Bai RK, Chang J, Yeh KT, Lou MA, Lu JF, Tan DJ, Liu H, Wong LJ. Mitochondrial DNA content varies with pathological characteristics of breast cancer. J Oncol. 2011; 2011:496189. PMID: 22028711.
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    114. Tang S, Dimberg EL, Milone M, Wong LJ. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. J Neurol. 2012 May; 259(5):862-8. PMID: 21993618.
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    115. Cox R, Platt J, Chen LC, Tang S, Wong LJ, Enns GM. Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine. Mitochondrion. 2012 Mar; 12(2):258-61. PMID: 21982779.
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    116. Chen X, Thorburn DR, Wong LJ, Vladutiu GD, Haas RH, Le T, Hoppel C, Sedensky M, Morgan P, Hahn SH. Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans. Genet Med. 2011 Sep; 13(9):794-9. PMID: 21633293.
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    117. Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ. Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. J Med Genet. 2011 Oct; 48(10):669-81. PMID: 21880868.
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    118. Wang T, Pradhan K, Ye K, Wong LJ, Rohan TE. Estimating allele frequency from next-generation sequencing of pooled mitochondrial DNA samples. Front Genet. 2011; 2:51. PMID: 22303347.
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    119. Fajardo G, Zhao M, Berry G, Wong LJ, Mochly-Rosen D, Bernstein D. ß2-adrenergic receptors mediate cardioprotection through crosstalk with mitochondrial cell death pathways. J Mol Cell Cardiol. 2011 Nov; 51(5):781-9. PMID: 21756913.
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    120. Sandulache VC, Skinner HD, Ow TJ, Zhang A, Xia X, Luchak JM, Wong LJ, Pickering CR, Zhou G, Myers JN. Individualizing antimetabolic treatment strategies for head and neck squamous cell carcinoma based on TP53 mutational status. Cancer. 2012 Feb 01; 118(3):711-21. PMID: 21720999.
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    121. Milone M, Wang J, Liewluck T, Chen LC, Leavitt JA, Wong LJ. Novel POLG splice site mutation and optic atrophy. Arch Neurol. 2011 Jun; 68(6):806-11. PMID: 21670405.
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    122. Young MJ, Longley MJ, Li FY, Kasiviswanathan R, Wong LJ, Copeland WC. Biochemical analysis of human POLG2 variants associated with mitochondrial disease. Hum Mol Genet. 2011 Aug 01; 20(15):3052-66. PMID: 21555342.
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    123. Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ. Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis. Mol Genet Metab. 2011 Aug; 103(4):349-57. PMID: 21605995.
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    124. Schaaf CP, Blazo M, Lewis RA, Tonini RE, Takei H, Wang J, Wong LJ, Scaglia F. Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations. Mol Genet Metab. 2011 Aug; 103(4):383-7. PMID: 21636302.
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    125. Tu YF, Kaipparettu BA, Ma Y, Wong LJ. Mitochondria of highly metastatic breast cancer cell line MDA-MB-231 exhibits increased autophagic properties. Biochim Biophys Acta. 2011 Sep; 1807(9):1125-32. PMID: 21570379.
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    126. Häberle J, Shchelochkov OA, Wang J, Katsonis P, Hall L, Reiss S, Eeds A, Willis A, Yadav M, Summar S, Lichtarge O, Rubio V, Wong LJ, Summar M. Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. Hum Mutat. 2011 Jun; 32(6):579-89. PMID: 21120950.
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    127. Van Karnebeek CD, Waters PJ, Sargent MA, Mezei MM, Mezey MM, Wong LJ, Wang J, Stöckler-Ipsiroglu S. Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation. Dev Med Child Neurol. 2011 Jun; 53(6):565-8. PMID: 21518340.
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    128. Hanchard NA, Shchelochkov OA, Roy A, Wiszniewska J, Wang J, Popek EJ, Karpen S, Wong LJ, Scaglia F. Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis. Mol Genet Metab. 2011 Jul; 103(3):262-7. PMID: 21478040.
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    129. Landsverk ML, Wang J, Schmitt ES, Pursley AN, Wong LJ. Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disorders. Mol Genet Metab. 2011 Jun; 103(2):148-52. PMID: 21482165.
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    130. Fruhman G, Landsverk ML, Lotze TE, Hunter JV, Wangler MF, Adesina AM, Wong LJ, Scaglia F. Atypical presentation of Leigh syndrome associated with a Leber hereditary optic neuropathy primary mitochondrial DNA mutation. Mol Genet Metab. 2011 Jun; 103(2):153-60. PMID: 21414825.
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    131. Brunetti-Pierri N, Pignatelli R, Fouladi N, Towbin JA, Belmont JW, Craigen WJ, Wong LJ, Jefferies JL, Scaglia F. Dilation of the aortic root in mitochondrial disease patients. Mol Genet Metab. 2011 Jun; 103(2):167-70. PMID: 21406331.
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    132. Venegas V, Wang J, Dimmock D, Wong LJ. Real-time quantitative PCR analysis of mitochondrial DNA content. Curr Protoc Hum Genet. 2011 Jan; Chapter 19:Unit 19.7.. PMID: 21234878.
      Citations: 33     Fields:    Translation:HumansCells
    133. Wang J, Venegas V, Li F, Wong LJ. Analysis of mitochondrial DNA point mutation heteroplasmy by ARMS quantitative PCR. Curr Protoc Hum Genet. 2011 Jan; Chapter 19:Unit 19.6.. PMID: 21234877.
      Citations: 6     Fields:    Translation:HumansAnimals
    134. Sadikovic B, Wang J, El-Hattab AW, Landsverk M, Douglas G, Brundage EK, Craigen WJ, Schmitt ES, Wong LJ. Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes. PLoS One. 2010 12 20; 5(12):e15687. PMID: 21187929.
      Citations: 16     Fields:    Translation:HumansCells
    135. Randolph LM, Jackson HA, Wang J, Shimada H, Sanchez-Lara PA, Wong DA, Wong LJ, Boles RG. Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder. Mol Genet Metab. 2011 Feb; 102(2):149-52. PMID: 21093335.
      Citations: 3     Fields:    Translation:HumansCells
    136. Gelfand JM, Duncan JL, Racine CA, Gillum LA, Chin CT, Zhang Y, Zhang Q, Wong LJ, Roorda A, Green AJ. Heterogeneous patterns of tissue injury in NARP syndrome. J Neurol. 2011 Mar; 258(3):440-8. PMID: 20953793.
      Citations: 11     Fields:    Translation:Humans
    137. Wang J, Shchelochkov OA, Zhan H, Li F, Chen LC, Brundage EK, Pursley AN, Schmitt ES, Häberle J, Wong LJ. Molecular characterization of CPS1 deletions by array CGH. Mol Genet Metab. 2011 Jan; 102(1):103-6. PMID: 20855223.
      Citations: 2     Fields:    Translation:HumansCells
    138. Compton AG, Troedson C, Wilson M, Procopis PG, Li FY, Brundage EK, Yamazaki T, Thorburn DR, Wong LJ. Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome. Mitochondrion. 2011 Jan; 11(1):104-7. PMID: 20708716.
      Citations: 3     Fields:    Translation:Humans
    139. Li FY, El-Hattab AW, Bawle EV, Boles RG, Schmitt ES, Scaglia F, Wong LJ. Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. Hum Mutat. 2010 Aug; 31(8):E1632-51. PMID: 20574985.
      Citations: 21     Fields:    Translation:HumansPHPublic Health
    140. Shchelochkov OA, Li FY, Wang J, Zhan H, Towbin JA, Jefferies JL, Wong LJ, Scaglia F. Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. Mol Genet Metab. 2010 Oct-Nov; 101(2-3):282-5. PMID: 20728387.
      Citations: 7     Fields:    Translation:HumansCells
    141. Massie R, Wong LJ, Milone M. Exercise intolerance due to cytochrome b mutation. Muscle Nerve. 2010 Jul; 42(1):136-40. PMID: 20544923.
      Citations: 4     Fields:    Translation:HumansCells
    142. Kaipparettu BA, Ma Y, Wong LJ. Functional effects of cancer mitochondria on energy metabolism and tumorigenesis: utility of transmitochondrial cybrids. Ann N Y Acad Sci. 2010 Jul; 1201:137-46. PMID: 20649550.
      Citations: 19     Fields:    Translation:HumansAnimalsCells
    143. Rohan TE, Wong LJ, Wang T, Haines J, Kabat GC. Do alterations in mitochondrial DNA play a role in breast carcinogenesis? J Oncol. 2010; 2010:604304. PMID: 20628528.
      Citations:    
    144. Dimmock D, Tang LY, Schmitt ES, Wong LJ. Quantitative evaluation of the mitochondrial DNA depletion syndrome. Clin Chem. 2010 Jul; 56(7):1119-27. PMID: 20448188.
      Citations: 36     Fields:    Translation:HumansCells
    145. Coughlin CR, Krantz ID, Schmitt ES, Zhang S, Wong LJ, Kerr DS, Ganesh J. Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency. Mol Genet Metab. 2010 Jul; 100(3):296-9. PMID: 20462777.
      Citations: 3     Fields:    Translation:HumansCells
    146. Wong LJ, Scaglia F, Graham BH, Craigen WJ. Current molecular diagnostic algorithm for mitochondrial disorders. Mol Genet Metab. 2010 Jun; 100(2):111-7. PMID: 20359921.
      Citations: 12     Fields:    Translation:HumansCells
    147. Lueth M, von Deimling A, Pietsch T, Wong LJ, Kurtz A, Henze G, Driever PH. Medulloblastoma harbor somatic mitochondrial DNA mutations in the D-loop region. J Pediatr Hematol Oncol. 2010 Mar; 32(2):156-9. PMID: 20147852.
      Citations: 4     Fields:    Translation:Humans
    148. Saneto RP, Lee IC, Koenig MK, Bao X, Weng SW, Naviaux RK, Wong LJ. POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Seizure. 2010 Apr; 19(3):140-6. PMID: 20138553.
      Citations: 29     Fields:    Translation:Humans
    149. Juo SH, Lu MY, Bai RK, Liao YC, Trieu RB, Yu ML, Wong LJ. A common mitochondrial polymorphism 10398A>G is associated metabolic syndrome in a Chinese population. Mitochondrion. 2010 Apr; 10(3):294-9. PMID: 20067846.
      Citations: 8     Fields:    Translation:Humans
    150. El-Hattab AW, Li FY, Shen J, Powell BR, Bawle EV, Adams DJ, Wahl E, Kobori JA, Graham B, Scaglia F, Wong LJ. Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. Genet Med. 2010 Jan; 12(1):19-24. PMID: 20027113.
      Citations: 29     Fields:    Translation:HumansPHPublic Health
    151. Wong LJ. Molecular genetics of mitochondrial disorders. Dev Disabil Res Rev. 2010; 16(2):154-62. PMID: 20818730.
      Citations: 18     Fields:    Translation:HumansCells
    152. Zhang S, Li FY, Bass HN, Pursley A, Schmitt ES, Brown BL, Brundage EK, Mardach R, Wong LJ. Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion. Mol Genet Metab. 2010 Jan; 99(1):53-7. PMID: 19815440.
      Citations: 5     Fields:    Translation:HumansCells
    153. Hsu YC, Yang FC, Perng CL, Tso AC, Wong LJ, Hsu CH. Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome presenting as acute meningoencephalitis: a case report. J Emerg Med. 2012 Sep; 43(3):e163-6. PMID: 20036095.
      Citations: 3     Fields:    Translation:Humans
    154. Sansanwal P, Yen B, Gahl WA, Ma Y, Ying L, Wong LJ, Sarwal MM. Mitochondrial autophagy promotes cellular injury in nephropathic cystinosis. J Am Soc Nephrol. 2010 Feb; 21(2):272-83. PMID: 19959713.
      Citations: 46     Fields:    Translation:HumansCells
    155. Brunetti-Pierri N, Shaibani A, Zhang S, Wong LJ, Shinawi M. Progressive myopathy with multiple symmetric lipomatosis. Arch Neurol. 2009 Dec; 66(12):1576-7. PMID: 20008669.
      Citations: 1     Fields:    Translation:Humans
    156. Ji JQ, Dimmock D, Tang LY, Descartes M, Gomez R, Rutledge SL, Schmitt ES, Wong LJ. A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping. Mitochondrion. 2010 Mar; 10(2):188-91. PMID: 19900589.
      Citations: 6     Fields:    Translation:HumansCells
    157. El-Hattab AW, Li FY, Schmitt E, Zhang S, Craigen WJ, Wong LJ. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. Mol Genet Metab. 2010 Mar; 99(3):300-8. PMID: 20074988.
      Citations: 25     Fields:    Translation:Humans
    158. Collins J, Bove KE, Dimmock D, Morehart P, Wong LJ, Wong B. Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations. Neuromuscul Disord. 2009 Nov; 19(11):784-7. PMID: 19736010.
      Citations: 4     Fields:    Translation:Humans
    159. Ma Y, Bai RK, Trieu R, Wong LJ. Mitochondrial dysfunction in human breast cancer cells and their transmitochondrial cybrids. Biochim Biophys Acta. 2010 Jan; 1797(1):29-37. PMID: 19647716.
      Citations: 25     Fields:    Translation:HumansCells
    160. Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol. 2009 Aug; 66(8):1028-32. PMID: 19667227.
      Citations: 27     Fields:    Translation:Humans
    161. Shieh JT, Berquist WE, Zhang Q, Chou PC, Wong LJ, Enns GM. Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure. J Pediatr Gastroenterol Nutr. 2009 Jul; 49(1):130-2. PMID: 19502998.
      Citations: 3     Fields:    Translation:Humans
    162. Lutz RE, Dimmock D, Schmitt ES, Zhang Q, Tang LY, Reyes C, Truemper E, McComb RD, Hernandez A, Basinger A, Wong LJ. De novo mutations in POLG presenting with acute liver failure or encephalopathy. J Pediatr Gastroenterol Nutr. 2009 Jul; 49(1):126-9. PMID: 19252446.
      Citations: 4     Fields:    Translation:Humans
    163. Chinault AC, Shaw CA, Brundage EK, Tang LY, Wong LJ. Application of dual-genome oligonucleotide array-based comparative genomic hybridization to the molecular diagnosis of mitochondrial DNA deletion and depletion syndromes. Genet Med. 2009 Jul; 11(7):518-26. PMID: 19546809.
      Citations: 14     Fields:    Translation:Humans
    164. Van Hove JL, Cunningham V, Rice C, Ringel SP, Zhang Q, Chou PC, Truong CK, Wong LJ. Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. . 2009 May; 149A(5):861-7. PMID: 19353676.
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    165. Dai P, Yu F, Han B, Liu X, Wang G, Li Q, Yuan Y, Liu X, Huang D, Kang D, Zhang X, Yuan H, Yao K, Hao J, He J, He Y, Wang Y, Ye Q, Yu Y, Lin H, Liu L, Deng W, Zhu X, You Y, Cui J, Hou N, Xu X, Zhang J, Tang L, Song R, Lin Y, Sun S, Zhang R, Wu H, Ma Y, Zhu S, Wu BL, Han D, Wong LJ. GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. J Transl Med. 2009 Apr 14; 7:26. PMID: 19366456.
      Citations: 54     Fields:    Translation:Humans
    166. Milone M, Younge BR, Wang J, Zhang S, Wong LJ. Mitochondrial disorder with OPA1 mutation lacking optic atrophy. Mitochondrion. 2009 Jul; 9(4):279-81. PMID: 19303950.
      Citations: 10     Fields:    Translation:Humans
    167. Shchelochkov O, Wong LJ, Shaibani A, Shinawi M. Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation. Muscle Nerve. 2009 Mar; 39(3):374-82. PMID: 19208414.
      Citations: 4     Fields:    Translation:Humans
    168. Shchelochkov OA, Li FY, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong LJ. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH. Mol Genet Metab. 2009 Mar; 96(3):97-105. PMID: 19138872.
      Citations: 18     Fields:    Translation:HumansCells
    169. Wang J, Brautbar A, Chan AK, Dzwiniel T, Li FY, Waters PJ, Graham BH, Wong LJ. Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family. Mol Genet Metab. 2009 Feb; 96(2):59-65. PMID: 19062322.
      Citations: 5     Fields:    Translation:HumansAnimalsCells
    170. Dai P, Yuan Y, Huang D, Zhu X, Yu F, Kang D, Yuan H, Wu B, Han D, Wong LJ. Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis. J Transl Med. 2008 Nov 30; 6:74. PMID: 19040761.
      Citations: 17     Fields:    Translation:HumansCells
    171. Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, Bai R, Hainline B, Hamosh A, O'Brien WE, Scaglia F, Wong LJ. Citrin deficiency, a perplexing global disorder. Mol Genet Metab. 2009 Jan; 96(1):44-9. PMID: 19036621.
      Citations: 22     Fields:    Translation:HumansCells
    172. Yoon MK, Roorda A, Zhang Y, Nakanishi C, Wong LJ, Zhang Q, Gillum L, Green A, Duncan JL. Adaptive optics scanning laser ophthalmoscopy images in a family with the mitochondrial DNA T8993C mutation. Invest Ophthalmol Vis Sci. 2009 Apr; 50(4):1838-47. PMID: 18997096.
      Citations: 32     Fields:    Translation:HumansCells
    173. Dimmock DP, Dunn JK, Feigenbaum A, Rupar A, Horvath R, Freisinger P, Mousson de Camaret B, Wong LJ, Scaglia F. Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency. Liver Transpl. 2008 Oct; 14(10):1480-5. PMID: 18825706.
      Citations: 22     Fields:    Translation:Humans
    174. Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat. 2008 Sep; 29(9):E150-72. PMID: 18546365.
      Citations: 78     Fields:    Translation:Humans
    175. Venugopalan SR, Amen MA, Wang J, Wong L, Cavender AC, D'Souza RN, Akerlund M, Brody SL, Hjalt TA, Amendt BA. Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis. Hum Mol Genet. 2008 Dec 01; 17(23):3643-54. PMID: 18723525.
      Citations: 18     Fields:    Translation:HumansAnimalsCells
    176. Covarrubias D, Bai RK, Wong LC, Leal SM. Mitochondrial DNA variant interactions modify breast cancer risk. J Hum Genet. 2008; 53(10):924-928. PMID: 18709563.
      Citations: 19     Fields:    Translation:HumansCells
    177. Milone M, Brunetti-Pierri N, Tang LY, Kumar N, Mezei MM, Josephs K, Powell S, Simpson E, Wong LJ. Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. Neuromuscul Disord. 2008 Aug; 18(8):626-32. PMID: 18585914.
      Citations: 12     Fields:    Translation:Humans
    178. Schrijver I, Rappahahn K, Pique L, Kharrazi M, Wong LJ. Multiplex ligation-dependent probe amplification identification of whole exon and single nucleotide deletions in the CFTR gene of Hispanic individuals with cystic fibrosis. J Mol Diagn. 2008 Jul; 10(4):368-75. PMID: 18556774.
      Citations: 4     Fields:    Translation:HumansCells
    179. Brautbar A, Wang J, Abdenur JE, Chang RC, Thomas JA, Grebe TA, Lim C, Weng SW, Graham BH, Wong LJ. The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle. Mol Genet Metab. 2008 Aug; 94(4):485-90. PMID: 18495510.
      Citations: 9     Fields:    Translation:HumansCells
    180. Wong LJ, Dimmock D, Geraghty MT, Quan R, Lichter-Konecki U, Wang J, Brundage EK, Scaglia F, Chinault AC. Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. Clin Chem. 2008 Jul; 54(7):1141-8. PMID: 18487280.
      Citations: 26     Fields:    Translation:HumansCells
    181. Scaglia F, Wong LJ. Human mitochondrial transfer RNAs: role of pathogenic mutation in disease. Muscle Nerve. 2008 Feb; 37(2):150-71. PMID: 17999409.
      Citations: 19     Fields:    Translation:Humans
    182. Haas RH, Parikh S, Falk MJ, Saneto RP, Wolf NI, Darin N, Wong LJ, Cohen BH, Naviaux RK. The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab. 2008 May; 94(1):16-37. PMID: 18243024.
      Citations: 104     Fields:    Translation:HumansCells
    183. Bao X, Wu Y, Wong LJ, Zhang Y, Xiong H, Chou PC, Truong CK, Jiang Y, Qin J, Yuan Y, Lin Q, Wu X. Alpers syndrome with prominent white matter changes. Brain Dev. 2008 Apr; 30(4):295-300. PMID: 17923349.
      Citations: 4     Fields:    Translation:HumansCells
    184. Wong LJ, Lee MH, Chen M, Alper OM, Tsao LY, Wang BT. First prenatal exclusion of cystic fibrosis in East Asia. Pediatr Int. 2007 Oct; 49(5):686-7. PMID: 17875103.
      Citations:    Fields:    Translation:Humans
    185. Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ. Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology. 2007 Oct; 46(4):1218-27. PMID: 17694548.
      Citations: 31     Fields:    Translation:Humans
    186. Wong LJ. Pathogenic mitochondrial DNA mutations in protein-coding genes. Muscle Nerve. 2007 Sep; 36(3):279-93. PMID: 17503499.
      Citations: 21     Fields:    Translation:Humans
    187. Bai RK, Leal SM, Covarrubias D, Liu A, Wong LJ. Mitochondrial genetic background modifies breast cancer risk. Cancer Res. 2007 May 15; 67(10):4687-94. PMID: 17510395.
      Citations: 93     Fields:    Translation:HumansCells
    188. Dai P, Yu F, Han B, Yuan Y, Li Q, Wang G, Liu X, He J, Huang D, Kang D, Zhang X, Yuan H, Schmitt E, Han D, Wong LJ. The prevalence of the 235delC GJB2 mutation in a Chinese deaf population. Genet Med. 2007 May; 9(5):283-9. PMID: 17505205.
      Citations: 16     Fields:    Translation:Humans
    189. Dimmock D, Kobayashi K, Iijima M, Tabata A, Wong LJ, Saheki T, Lee B, Scaglia F. Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet. Pediatrics. 2007 Mar; 119(3):e773-7. PMID: 17332192.
      Citations: 21     Fields:    Translation:Humans
    190. Wong LJ. Diagnostic challenges of mitochondrial DNA disorders. Mitochondrion. 2007 Feb-Apr; 7(1-2):45-52. PMID: 17276740.
      Citations: 21     Fields:    Translation:HumansCells
    191. Feigenbaum A, Bai RK, Doherty ES, Kwon H, Tan D, Sloane A, Cutz E, Robinson BH, Wong LJ. Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness. . 2006 Oct 15; 140(20):2216-22. PMID: 16955414.
      Citations:    
    192. Gambello MJ, Bai RK, Chen TJ, Dimachkie M, Wong LJ. Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlys. Muscle Nerve. 2006 Oct; 34(4):437-43. PMID: 16810691.
      Citations:    Fields:    Translation:HumansCells
    193. Scaglia F, Hsu CH, Kwon H, Bai RK, Perng CL, Chang HM, Dai P, Smith EO, Whiteman DA, Feigenbaum A, Gropman A, Wong LJ. Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy. Genet Med. 2006 Oct; 8(10):641-52. PMID: 17079881.
      Citations: 2     Fields:    Translation:Humans
    194. Wong LJ, Dai P, Lu JF, Lou MA, Clarke R, Nazarov V. AIB1 gene amplification and the instability of polyQ encoding sequence in breast cancer cell lines. BMC Cancer. 2006 May 02; 6:111. PMID: 16670003.
      Citations: 6     Fields:    Translation:HumansCells
    195. Tan DJ, Chang J, Liu LL, Bai RK, Wang YF, Yeh KT, Wong LJ. Significance of somatic mutations and content alteration of mitochondrial DNA in esophageal cancer. BMC Cancer. 2006 Apr 18; 6:93. PMID: 16620376.
      Citations: 18     Fields:    Translation:HumansCells
    196. Enns GM, Bai RK, Beck AE, Wong LJ. Molecular-clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load. Mol Genet Metab. 2006 Aug; 88(4):364-71. PMID: 16546428.
      Citations: 11     Fields:    Translation:HumansCells
    197. Wong LJ, Cobb BR, Chen TJ. Molecular analysis of mitochondrial DNA point mutations by polymerase chain reaction. Methods Mol Biol. 2006; 336:135-43. PMID: 16916259.
      Citations: 2     Fields:    Translation:HumansCells
    198. Wong LJ, Bai RK. Real-time quantitative polymerase chain reaction analysis of mitochondrial DNA point mutation. Methods Mol Biol. 2006; 335:187-200. PMID: 16785629.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    199. Bai RK, Wong LJ. Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease. J Mol Diagn. 2005 Nov; 7(5):613-22. PMID: 16258160.
      Citations: 45     Fields:    Translation:HumansCells
    200. Scaglia F, Wong LJ, Vladutiu GD, Hunter JV. Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects. AJNR Am J Neuroradiol. 2005 Aug; 26(7):1675-80. PMID: 16091512.
      Citations: 15     Fields:    Translation:Humans
    201. McComsey G, Bai RK, Maa JF, Seekins D, Wong LJ. Extensive investigations of mitochondrial DNA genome in treated HIV-infected subjects: beyond mitochondrial DNA depletion. . 2005 Jun 01; 39(2):181-8. PMID: 15905734.
      Citations:    
    202. Wu CC, Alper OM, Lu JF, Wang SP, Guo L, Chiang HS, Wong LJ. Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens. Hum Reprod. 2005 Sep; 20(9):2470-5. PMID: 15905293.
      Citations: 7     Fields:    Translation:HumansCells
    203. Hsu CH, Kwon H, Perng CL, Bai RK, Dai P, Wong LJ. Hearing loss in mitochondrial disorders. Ann N Y Acad Sci. 2005 May; 1042:36-47. PMID: 15965043.
      Citations: 7     Fields:    Translation:Humans
    204. Wong LJ. Molecular genetics of common mitochondrial DNA disorders. Beijing Da Xue Xue Bao Yi Xue Ban. 2005 Feb 18; 37(1):26-31. PMID: 15719036.
      Citations:    Fields:    Translation:Humans
    205. Wong LJ, Boles RG. Mitochondrial DNA analysis in clinical laboratory diagnostics. Clin Chim Acta. 2005 Apr; 354(1-2):1-20. PMID: 15748595.
      Citations: 21     Fields:    Translation:Humans
    206. Wong LJ, Alper OM, Hsu E, Woo MS, Margetis MF. The necessity of complete CFTR mutational analysis of an infertile couple before in vitro fertilization. Fertil Steril. 2004 Oct; 82(4):947-9. PMID: 15482777.
      Citations: 2     Fields:    Translation:Humans
    207. Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vogel H. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004 Oct; 114(4):925-31. PMID: 15466086.
      Citations: 85     Fields:    Translation:HumansCells
    208. Alper OM, Wong LJ, Young S, Pearl M, Graham S, Sherwin J, Nussbaum E, Nielson D, Platzker A, Davies Z, Lieberthal A, Chin T, Shay G, Hardy K, Kharrazi M. Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients. Hum Mutat. 2004 Oct; 24(4):353. PMID: 15365999.
      Citations: 10     Fields:    Translation:HumansCells
    209. Shanske S, Wong LJ. Molecular analysis for mitochondrial DNA disorders. Mitochondrion. 2004 Sep; 4(5-6):403-15. PMID: 16120402.
      Citations: 4     Fields:    
    210. Kurtz A, Lueth M, Kluwe L, Zhang T, Foster R, Mautner VF, Hartmann M, Tan DJ, Martuza RL, Friedrich RE, Driever PH, Wong LJ. Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumors. Mol Cancer Res. 2004 Aug; 2(8):433-41. PMID: 15328370.
      Citations: 13     Fields:    Translation:HumansCells
    211. Wong LJ, Chen TJ, Tan DJ. Detection of mitochondrial DNA mutations using temporal temperature gradient gel electrophoresis. Electrophoresis. 2004 Aug; 25(15):2602-10. PMID: 15300781.
      Citations: 12     Fields:    Translation:Humans
    212. Wong LJ, Alper OM. Detection of CFTR mutations using temporal temperature gradient gel electrophoresis. Electrophoresis. 2004 Aug; 25(15):2593-601. PMID: 15300780.
      Citations: 5     Fields:    Translation:Humans
    213. Wong LJ, Wladyka C, Mardach-Verdon R. A mitochondrial DNA mutation in a patient with an extensive family history of Duchenne muscular dystrophy. Muscle Nerve. 2004 Jul; 30(1):118-22. PMID: 15221888.
      Citations:    Fields:    Translation:Humans
    214. Liu LL, Tan DJ, Wang SW, Wong LJ. [Evaluation of inheritable character in essential hypertension through reconstruction of neighbor-joining tree]. Yi Chuan. 2004 Jul; 26(4):441-5. PMID: 15640036.
      Citations:    Fields:    Translation:Humans
    215. Liu L, Tan D, Wong LJ. [Somatic mutation detection in complete mitochondrial DNA of lung cancer patients]. Zhongguo Fei Ai Za Zhi. 2004 Apr 20; 7(2):125-9. PMID: 21215006.
      Citations: 1     Fields:    
    216. Bai RK, Wong LJ. Detection and quantification of heteroplasmic mutant mitochondrial DNA by real-time amplification refractory mutation system quantitative PCR analysis: a single-step approach. Clin Chem. 2004 Jun; 50(6):996-1001. PMID: 15073091.
      Citations: 44     Fields:    Translation:Humans
    217. Kwon H, Tan DJ, Bai RK, Wong LJ. Enhanced detection of deleterious mutations by TTGE analysis of mother and child's DNA side by side. Ann N Y Acad Sci. 2004 Apr; 1011:299-303. PMID: 15126305.
      Citations:    Fields:    Translation:HumansCells
    218. Bai RK, Perng CL, Hsu CH, Wong LJ. Quantitative PCR analysis of mitochondrial DNA content in patients with mitochondrial disease. Ann N Y Acad Sci. 2004 Apr; 1011:304-9. PMID: 15126306.
      Citations: 39     Fields:    Translation:Humans
    219. Wong LJ. Comprehensive molecular diagnosis of mitochondrial disorders: qualitative and quantitative approach. Ann N Y Acad Sci. 2004 Apr; 1011:246-58. PMID: 15126301.
      Citations: 3     Fields:    Translation:HumansCells
    220. Tan DJ, Chang J, Chen WL, Agress LJ, Yeh KT, Wang B, Wong LJ. Somatic mitochondrial DNA mutations in oral cancer of betel quid chewers. Ann N Y Acad Sci. 2004 Apr; 1011:310-6. PMID: 15126307.
      Citations: 12     Fields:    Translation:HumansAnimalsCells
    221. Gropman A, Chen TJ, Perng CL, Krasnewich D, Chernoff E, Tifft C, Wong LJ. Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. . 2004 Feb 01; 124A(4):377-82. PMID: 14735585.
      Citations:    
    222. Baidas S, Chen TJ, Kolev V, Wong LJ, Imholte J, Qin N, Meck J. Constitutional trisomy 8 mosaicism due to meiosis II non-disjunction in a phenotypically normal woman with hematologic abnormalities. . 2004 Feb 01; 124A(4):383-7. PMID: 14735586.
      Citations:    
    223. Williams SM, Ritchie MD, Phillips JA, Dawson E, Prince M, Dzhura E, Willis A, Semenya A, Summar M, White BC, Addy JH, Kpodonu J, Wong LJ, Felder RA, Jose PA, Moore JH. Multilocus analysis of hypertension: a hierarchical approach. Hum Hered. 2004; 57(1):28-38. PMID: 15133310.
      Citations: 50     Fields:    Translation:Humans
    224. Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Liu LL, Wong LJ. Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis. . 2003 Dec 01; 123A(2):172-8. PMID: 14598342.
      Citations:    
    225. Wong LJ, Alper OM, Wang BT, Lee MH, Lo SY. Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations. . 2003 Jul 15; 120A(2):296-8. PMID: 12833420.
      Citations:    
    226. Alper OM, Wong LJ, Hostetter G, Cook J, Tenenholz B, Hsu E, Woo MS. 1154insTC is not a rare CFTR mutation. . 2003 Jul 15; 120A(2):294-5. PMID: 12833419.
      Citations:    
    227. Wong LJ, Lueth M, Li XN, Lau CC, Vogel H. Detection of mitochondrial DNA mutations in the tumor and cerebrospinal fluid of medulloblastoma patients. Cancer Res. 2003 Jul 15; 63(14):3866-71. PMID: 12873974.
      Citations: 31     Fields:    Translation:Humans
    228. Tan DJ, Chang J, Chen WL, Agress LJ, Yeh KT, Wang B, Wong LJ. Novel heteroplasmic frameshift and missense somatic mitochondrial DNA mutations in oral cancer of betel quid chewers. Genes Chromosomes Cancer. 2003 Jun; 37(2):186-94. PMID: 12696067.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    229. Alper OM, Shu SG, Lee MH, Wang BT, Lo SY, Lin KL, Chiu YL, Wong LJ. Detection of novel CFTR mutations in Taiwanese cystic fibrosis patients. J Formos Med Assoc. 2003 May; 102(5):287-91. PMID: 12874665.
      Citations: 4     Fields:    Translation:Humans
    230. Scaglia F, Scheuerle AE, Towbin JA, Armstrong DL, Sweetman L, Wong LJ. Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism. BMC Pediatr. 2002 Dec 30; 2:12. PMID: 12507404.
      Citations: 2     Fields:    Translation:Humans
    231. Hancock DK, Schwarz FP, Song F, Wong LJ, Levin BC. Design and use of a peptide nucleic acid for detection of the heteroplasmic low-frequency mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) mutation in human mitochondrial DNA. Clin Chem. 2002 Dec; 48(12):2155-63. PMID: 12446471.
      Citations: 9     Fields:    Translation:Humans
    232. Wong LJ, Liang MH, Kwon H, Bai RK, Alper O, Gropman A. A cystic fibrosis patient with two novel mutations in mitochondrial DNA: mild disease led to delayed diagnosis of both disorders. Am J Med Genet. 2002 Nov 15; 113(1):59-64. PMID: 12400067.
      Citations: 6     Fields:    Translation:HumansAnimalsCells
    233. Wong LJ, Liang MH, Kwon H, Park J, Bai RK, Tan DJ. Comprehensive scanning of the entire mitochondrial genome for mutations. Clin Chem. 2002 Nov; 48(11):1901-12. PMID: 12406974.
      Citations: 20     Fields:    Translation:HumansCells
    234. Felder RA, Sanada H, Xu J, Yu PY, Wang Z, Watanabe H, Asico LD, Wang W, Zheng S, Yamaguchi I, Williams SM, Gainer J, Brown NJ, Hazen-Martin D, Wong LJ, Robillard JE, Carey RM, Eisner GM, Jose PA. G protein-coupled receptor kinase 4 gene variants in human essential hypertension. Proc Natl Acad Sci U S A. 2002 Mar 19; 99(6):3872-7. PMID: 11904438.
      Citations: 81     Fields:    Translation:HumansAnimalsCells
    235. McComsey G, Tan DJ, Lederman M, Wilson E, Wong LJ. Analysis of the mitochondrial DNA genome in the peripheral blood leukocytes of HIV-infected patients with or without lipoatrophy. AIDS. 2002 Mar 08; 16(4):513-8. PMID: 11872993.
      Citations: 11     Fields:    Translation:HumansCells
    236. Wong LJ, Wong H, Liu A. Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNA. Genet Med. 2002 Mar-Apr; 4(2):78-83. PMID: 11882784.
      Citations: 6     Fields:    Translation:Humans
    237. Tan DJ, Bai RK, Wong LJ. Comprehensive scanning of somatic mitochondrial DNA mutations in breast cancer. Cancer Res. 2002 Feb 15; 62(4):972-6. PMID: 11861366.
      Citations: 77     Fields:    Translation:HumansCells
    238. Wong LJ, Wang J, Zhang YH, Hsu E, Heim RA, Bowman CM, Woo MS. Improved detection of CFTR mutations in southern California Hispanic CF patients. Hum Mutat. 2002 Jan; 19(1):79. PMID: 11754107.
      Citations: 1     Fields:    
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