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LEE-JUN WONG

TitleProfessor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
DivisionMolecular & Human Genetics
Address1 Baylor Plaza
Houston TX 77030
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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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    1. 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. Am J Med Genet A. 2017 Jun 28. PMID: 28657663.
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    2. Akinrotimi O, Riessen R, VanDuyne P, Park JE, Lee YK, Wong LJ, Zavacki AM, Schoonjans K, Anakk S. Shp deletion prevents hepatic steatosis and when combined with Fxr loss protects against type 2 diabetes. Hepatology. 2017 Jun 06. PMID: 28586124.
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    3. 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 Apr 17. PMID: 28419689.
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    4. 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 Mar; 120(3):295. PMID: 28284539.
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    5. 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.
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    6. 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 Jan 26. PMID: 28125085.
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    7. 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.
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    8. 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. 2016 Nov 12. PMID: 27913098.
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    9. 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.
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    10. 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.
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    11. 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 Nov 15; 419(2):229-236. PMID: 27671873.
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    12. 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. High-throughput discovery of novel developmental phenotypes. Nature. 2016 Sep 22; 537(7621):508-514. PMID: 27626380.
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    13. 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 Nov; 18(6):817-824. PMID: 27620828.
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    14. 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 Jan; 54(1):47-53. PMID: 27550220.
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    15. 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 LT, 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 Jan; 139(1):232-245. PMID: 27577878.
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    16. 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 Aug; 118(4):264-71. PMID: 27233228.
      View in: PubMed
    17. 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; PMCID: PMC4847778.
    18. 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 Jun; 53(6):984-8. PMID: 26802438.
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    19. 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 LJ, Kaipparettu BA. Fatty Acid Oxidation-Driven Src Links Mitochondrial Energy Reprogramming and Oncogenic Properties in Triple-Negative Breast Cancer. Cell Rep. 2016 Mar 8; 14(9):2154-65. PMID: 26923594; PMCID: PMC4809061.
    20. 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):1684-97. PMID: 26876175; PMCID: PMC4767647.
    21. 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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    22. 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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    23. Xu M, Eblimit A, Wang J, Li J, Wang F, Zhao L, Wang X, Xiao N, Li Y, Wong LC, Lewis RA, Chen R. ADIPOR1 is Mutated in Syndromic Retinitis Pigmentosa. Hum Mutat. 2015 Dec 12. PMID: 26662040.
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    24. 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; 169:208-213.e2. PMID: 26602010.
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    25. 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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    26. 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 May; 18(5):513-21. PMID: 26402642.
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    27. 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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    28. 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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    29. 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; PMCID: PMC4807910.
    30. 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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    31. 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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    32. 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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    33. 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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    34. 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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    35. 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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    36. 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; 2:137. PMID: 25223649; PMCID: PMC4180433.
    37. 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; PMCID: PMC4179626.
    38. 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 Oct; 55(10):6213-23. PMID: 25097241.
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    39. 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; PMCID: PMC4338802.
    40. 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; PMCID: PMC4253070.
    41. 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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    42. 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; PMCID: PMC4118500.
    43. 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. Am J Med Genet A. 2014 Jul; 164A(7):1642-7. PMID: 24700572.
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    44. 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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    45. 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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    46. 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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    47. 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; PMCID: PMC4213341.
    48. 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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    49. 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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    50. 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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    51. 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 5; 93(3):471-81. PMID: 23993193; PMCID: PMC3769921.
    52. 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 5; 93(3):482-95. PMID: 23993194; PMCID: PMC3769923.
    53. 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; 14:83. PMID: 23947751; PMCID: PMC3751849.
    54. 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.
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    55. 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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    56. 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; PMCID: PMC3650012.
    57. 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.
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    58. 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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    59. Wong LJ. Challenges of bringing next generation sequencing technologies to clinical molecular diagnostic laboratories. Neurotherapeutics. 2013 Apr; 10(2):262-72. PMID: 23269496; PMCID: PMC3625389.
    60. Wong LJ. Next generation molecular diagnosis of mitochondrial disorders. Mitochondrion. 2013 Jul; 13(4):379-87. PMID: 23473862.
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    61. 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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    62. 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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    63. 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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    64. 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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    65. 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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    66. 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 2; 15(5):752-63. PMID: 22560224; PMCID: PMC3349072.
    67. 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.
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    68. 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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    69. 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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    70. Wong LJ. Mitochondrial syndromes with leukoencephalopathies. Semin Neurol. 2012 Feb; 32(1):55-61. PMID: 22422207.
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    71. 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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    72. 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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    166. 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.
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    167. 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. J Acquir Immune Defic Syndr. 2005 Jun 1; 39(2):181-8. PMID: 15905734.
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    168. 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.
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    169. 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.
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    170. Wong LJ. Molecular genetics of common mitochondrial DNA disorders. Beijing Da Xue Xue Bao. 2005 Feb 18; 37(1):26-31. PMID: 15719036.
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    171. Wong LJ, Boles RG. Mitochondrial DNA analysis in clinical laboratory diagnostics. Clin Chim Acta. 2005 Apr; 354(1-2):1-20. PMID: 15748595.
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    172. 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.
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    173. 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.
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    174. 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.
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    175. Shanske S, Wong LJ. Molecular analysis for mitochondrial DNA disorders. Mitochondrion. 2004 Sep; 4(5-6):403-15. PMID: 16120402.
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    176. 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.
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    177. 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.
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    178. Wong LJ, Alper OM. Detection of CFTR mutations using temporal temperature gradient gel electrophoresis. Electrophoresis. 2004 Aug; 25(15):2593-601. PMID: 15300780.
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    179. 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.
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    180. 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.
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    181. 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.
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    182. 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.
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    183. 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.
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    184. 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.
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    185. Wong LJ. Comprehensive molecular diagnosis of mitochondrial disorders: qualitative and quantitative approach. Ann N Y Acad Sci. 2004 Apr; 1011:246-58. PMID: 15126301.
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    186. 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.
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    187. Gropman A, Chen TJ, Perng CL, Krasnewich D, Chernoff E, Tifft C, Wong LJ. Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation. Am J Med Genet A. 2004 Feb 1; 124A(4):377-82. PMID: 14735585.
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    188. 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. Am J Med Genet A. 2004 Feb 1; 124A(4):383-7. PMID: 14735586.
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    189. 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.
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    190. 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. Am J Med Genet A. 2003 Dec 1; 123A(2):172-8. PMID: 14598342.
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    191. 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. Am J Med Genet A. 2003 Jul 15; 120A(2):296-8. PMID: 12833420.
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    192. Alper OM, Wong LJ, Hostetter G, Cook J, Tenenholz B, Hsu E, Woo MS. 1154insTC is not a rare CFTR mutation. Am J Med Genet A. 2003 Jul 15; 120A(2):294-5. PMID: 12833419.
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    193. 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.
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    194. 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.
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    195. 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.
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    196. 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; PMCID: PMC140035.
    197. 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.
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    198. 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.
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    199. 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.
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    200. 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; PMCID: PMC122616.
    201. 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 8; 16(4):513-8. PMID: 11872993.
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    202. Wong LJ, Wong H, Liu A. Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNA. Genet Med. 2002 Mar-Apr; 4(2):78-83. PMID: 11882784.
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    203. 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.
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    204. 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.
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