Publications

  1. Walsh JR, Sun G, Balan J, Hardcastle J, Vollenweider J, Jerde C, Rumilla K, Koellner C, Koleilat A, Hasadsri L, Kipp B, Jenkinson G, Klee E. A supervised learning method for classifying methylation disorders. BMC Bioinformatics. 2024 Feb 12; 25 (1):66
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  2. Lambert-Cheatham NA, Tessema ST, Subei O, Sakuru RC, Fullmer MD, Selner EM, Vidal-Folch N, Chang HT, Hasadsri L, Kaufman DI. Predicting Prognosis in CPEO With mtDNA Deletions: A Case Demonstrating the Advantages of Measuring Heteroplasmy With Novel Droplet Digital Polymerase Chain Reaction Testing. J Neuroophthalmol. 2023 Dec 1; 43 (4):e260-e263 Epub 2022 Apr 27
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  3. Koleilat A, Poling GL, Schimmenti LA, Hasadsri L. The Importance of Mitochondrial Disease Testing in Young Adults With New Onset Sensorineural Hearing Loss. Ear Hear. 2023 Nov 6 Epub 2023 Nov 06
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  4. Choate LA, Koleilat A, Harris K, Vidal-Folch N, Guenzel A, Newman J, Peterson BJ, Peterson SE, Rice CS, Train LJ, Hasadsri L, Marcou CA, Moyer AM, Baudhuin LM. Confirmation of Insertion, Deletion, and Deletion-Insertion Variants Detected by Next-Generation Sequencing. Clin Chem. 2023 Oct 03; 69(10):1155-1162.
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  5. Oliveira JL, Thompson CH, Saravanaperumal SA, Koganti T, Jenkinson G, Hein MS, Kohorst MA, Hasadsri L, Nguyen PL, Matern D, Kipp BR, Klee EW, Wieben ED, Hoyer JD, Rangan A. epsilongamma-Thalassemia, a New Hemoglobinopathy Category. Clin Chem. 2023 Jul 5; 69 (7):711-717
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  6. Polonis K, Lopes JL, Cabral H, Babcock HE, Kline L, Ruiz KM, Schwartz S, Hasadsri L, Rowsey RA, Hoppman NL. Uniparental disomy of multiple chromosomes in two cases with a complex phenotype. Am J Med Genet A. 2023 Jul; 191(7):1978-1983. Epub 2023 May 03.
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  7. Lopes J, Vidal-Folch N, Lundquist P, Schimmenti LA, Demirel N, Dean V, Olson J, Auth T, Butz M, Reed K, Wylam M, Balcom J, Boczek NJ, Hasadsri L. Aminoglycoside induced ototoxicity risk in the cystic fibrosis population: The utility of large-scale screening. Pediatr Pulmonol. 2023 Mar; 58(3):819-824. Epub 2022 Dec 20.
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  8. Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2023 Feb; 25 (2):100359
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  9. Zepeda-Mendoza CJ, Bontrager JE, Fisher CF, McDonald A, George-Abraham JK, Hasadsri L. Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy. Clin Case Rep. 2022 Jul; 10 (7):e6008 Epub 2022 July 11
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  10. Singh P, Viehman JK, Mehta RA, Cogal AG, Hasadsri L, Oglesbee D, Olson JB, Seide BM, Sas DJ, Harris PC, Lieske JC, Milliner DS. Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2. Nephrol Dial Transplant. 2022 Apr 25; 37 (5):869-875
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  11. Sorokina EA, Reis LM, Thompson S, Agre K, Babovic-Vuksanovic D, Ellingson MS, Hasadsri L, van Bever Y, Semina EV. WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins. Hum Genet. 2021 Dec; 140 (12):1775-1789 Epub 2021 Oct 12
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  12. Buglioni A, Hasadsri L, Nasr SH, Hogan MC, Moyer AM, Siddique K, Kidd K, Kmoch S, Hodanova K, Bleyer AJ, Alexander MP. Mitochondriopathy Manifesting as Inherited Tubulointerstitial Nephropathy Without Symptomatic Other Organ Involvement. Kidney Int Rep. 2021 Sep; 6 (9):2514-2518 Epub 2021 June 12
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  13. Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N, Mulhern MS, Kushary S, Akman CI, Heinzen EL, Yeh R, Bi W, Hanchard NA, Burrage LC, Leduc MS, Chong JSC, Bend R, Lyons MJ, Lee JA, Suwannarat P, Brilstra E, Simon M, Koopmans M, van Binsbergen E, Groepper D, Fleischer J, Nava C, Keren B, Mignot C, Mathieu S, Mancini GMS, Madan-Khetarpal S, Infante EM, Bluvstein J, Seeley A, Bachman K, Klee EW, Schultz-Rogers LE, Hasadsri L, Barnett S, Ellingson MS, Ferber MJ, Narayanan V, Ramsey K, Rauch A, Joset P, Steindl K, Sheehan T, Poduri A, Vasquez A, Ruivenkamp C, White SM, Pais L, Monaghan KG, Goldstein DB, Sands TT, Aggarwal V. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia. 2021 Jul; 62(7):e103-e109. Epub 2021 May 26.
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  14. Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2021 Mar; 23(3):498-507. Epub 2020 Nov 04.
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  15. Kim JO, Schaid DJ, Vachon CM, Cooke A, Couch FJ, Kim CA, Sinnwell JP, Hasadsri L, Stan DL, Goldenberg B, Neal L, Grenier D, Degnim AC, Thicke LA, Pruthi S. Impact of Personalized Genetic Breast Cancer Risk Estimation With Polygenic Risk Scores on Preventive Endocrine Therapy Intention and Uptake. Cancer Prev Res (Phila). 2021 Feb; 14 (2):175-184 Epub 2020 Oct 23
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  16. Cannata Serio M, Graham LA, Ashikov A, Larsen LE, Raymond K, Timal S, Le Meur G, Ryan M, Czarnowska E, Jansen JC, He M, Ficicioglu C, Pichurin P, Hasadsri L, Minassian B, Rugierri A, Kalimo H, Rios-Ocampo WA, Gilissen C, Rodenburg R, Jonker JW, Holleboom AG, Morava E, Veltman JA, Socha P, Stevens TH, Simons M, Lefeber DJ. Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease. Hepatology. 2020 Dec; 72 (6):1968-1986
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  17. Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmuller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coeslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. Eur J Hum Genet. 2020 Oct; 28 (10):1422-1431 Epub 2020 June 01
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  18. Muthusamy K, Macke EL, Klee EW, Tebben PJ, Hand JL, Hasadsri L, Marcou CA, Schimmenti LA. Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD. Am J Med Genet A. 2020 Oct; 182 (10):2442-2449 Epub 2020 Aug 20
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  19. Dasari S, Theis JD, Vrana JA, Rech KL, Dao LN, Howard MT, Dispenzieri A, Gertz MA, Hasadsri L, Highsmith WE, Kurtin PJ, McPhail ED. Amyloid Typing by Mass Spectrometry in Clinical Practice: a Comprehensive Review of 16,175 Samples. Mayo Clin Proc. 2020 Sep; 95 (9):1852-1864
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  20. Blackburn PR, Schultz MJ, Lahner CA, Li D, Bhoj E, Fisher LJ, Renaud DL, Kenney A, Ibrahim N, Hashem M, Zain Seidahmed M, Hasadsri L, Schrier Vergano SA, Alkuraya FS, Lanpher BC. Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. Ann Clin Transl Neurol. 2020 Jun; 7 (6):1013-1028 Epub 2020 June 09
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  21. Butz M, McDonald A, Lundquist PA, Meyer M, Harrington S, Kester S, Stein MI, Mistry NA, Zimmerman Zuckerman E, Niu Z, Schimmenti L, Hasadsri L, Boczek NJ. Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss. J Appl Lab Med. 2020 May 1; 5 (3):467-479
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  22. Wilton KM, Gunderson LB, Hasadsri L, Wood CP, Schimmenti LA. Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta. Mol Genet Genomic Med. 2020 May; 8 (5):e1211 Epub 2020 Mar 11
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  23. Rose L, Hall K, Tang S, Hasadsri L, Kimonis V. Homozygous B4GALNT1 mutation and biochemical glutaric acidemia type II: A case report. Clin Neurol Neurosurg. 2020 Feb; 189:105553 Epub 2019 Nov 01
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  24. Cousin MA, Conboy E, Wang JS, Lenz D, Schwab TL, Williams M, Abraham RS, Barnett S, El-Youssef M, Graham RP, Gutierrez Sanchez LH, Hasadsri L, Hoffmann GF, Hull NC, Kopajtich R, Kovacs-Nagy R, Li JQ, Marx-Berger D, McLin V, McNiven MA, Mounajjed T, Prokisch H, Rymen D, Schulze RJ, Staufner C, Yang Y, Clark KJ, Lanpher BC, Klee EW. RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities. Am J Hum Genet. 2019 Jul 3; 105 (1):108-121 Epub 2019 June 13
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  25. Nicola P, Blackburn PR, Rasmussen KJ, Bertsch NL, Klee EW, Hasadsri L, Pichurin PN, Rankin J, Raymond FL, DDD Study, Clayton-Smith J. De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability. Am J Med Genet A. 2019 Apr; 179(4):570-578. Epub 2019 Feb 07.
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  26. Gupta A, Ewing SA, Renaud DL, Hasadsri L, Raymond KM, Klee EW, Gavrilova RH. Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants. Clin Case Rep. 2019 Apr; 7 (4):632-637 Epub 2019 Feb 19
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  27. Ng PS, Pinto MV, Neff JL, Hasadsri L, Highsmith EW, Fidler ME, Gavrilova RH, Klein CJ. Mitochondrial cerebellar ataxia, renal failure, neuropathy, and encephalopathy (MCARNE). Neurol Genet. 2019 Apr; 5 (2):e314 Epub 2019 Mar 06
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  28. Boczek NJ, Lahner CA, Nguyen TM, Ferber MJ, Hasadsri L, Thorland EC, Niu Z, Gavrilova RH. Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2). Am J Med Genet A. 2018 Dec; 176 (12):2798-2802 Epub 2018 Oct 22
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  29. Oza AM, DiStefano MT, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Murry JB, Hasadsri L, Nara K, Kenna M, Booth KT, Azaiez H, Griffith A, Avraham KB, Kremer H, Rehm HL, Amr SS, Abou Tayoun AN, ClinGen Hearing Loss Clinical Domain Working Group. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018 Nov; 39 (11):1593-1613
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  30. Ashikov A, Abu Bakar N, Wen XY, Niemeijer M, Rodrigues Pinto Osorio G, Brand-Arzamendi K, Hasadsri L, Hansikova H, Raymond K, Vicogne D, Ondruskova N, Simon MEH, Pfundt R, Timal S, Beumers R, Biot C, Smeets R, Kersten M, Huijben K, Linders PTA, van den Bogaart G, van Hijum SAFT, Rodenburg R, van den Heuvel LP, van Spronsen F, Honzik T, Foulquier F, van Scherpenzeel M, Lefeber DJ, Mirjam W, Han B, Helen M, Helen M, Peter VH, Jiddeke VK, Diego M, Lars M, Katja BH, Jozef H, Majid A, Kevin C, Johann TWN, CDG group//CDG group. Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation. Hum Mol Genet. 2018 Sep 1; 27 (17):3029-3045
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  31. Richardson AM, Moyer AM, Hasadsri L, Abraham RS. Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases). Curr Allergy Asthma Rep. 2018 Feb 22; 18 (3):19
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  32. Nasr SH, Dasari S, Hasadsri L, Theis JD, Vrana JA, Gertz MA, Muppa P, Zimmermann MT, Grogg KL, Dispenzieri A, Sethi S, Highsmith WE Jr, Merlini G, Leung N, Kurtin PJ. Novel Type of Renal Amyloidosis Derived from Apolipoprotein-CII. J Am Soc Nephrol. 2017 Feb; 28 (2):439-445 Epub 2016 June 13
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  33. Aronson M, Gallinger S, Cohen Z, Cohen S, Dvir R, Elhasid R, Baris HN, Kariv R, Druker H, Chan H, Ling SC, Kortan P, Holter S, Semotiuk K, Malkin D, Farah R, Sayad A, Heald B, Kalady MF, Penney LS, Rideout AL, Rashid M, Hasadsri L, Pichurin P, Riegert-Johnson D, Campbell B, Bakry D, Al-Rimawi H, Alharbi QK, Alharbi M, Shamvil A, Tabori U, Durno C. Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium. Am J Gastroenterol. 2016 Feb; 111 (2):275-84 Epub 2016 Jan 05
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  34. Cocanougher B, Aypar U, McDonald A, Hasadsri L, Bennett MJ, Edward Highsmith W, DAco K. Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia. Data Brief. 2015 Jun; 3:34-9 Epub 2015 Feb 07
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  35. Cocanougher B, Aypar U, McDonald A, Hasadsri L, Bennett MJ, Edward Highsmith W, D'Aco K, Highsmith WE. Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease. Mol Genet Metab Rep. 2015 Mar; 2:61-64 Epub 2015 Jan 21
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  36. Wang H, Wang B, Jackson K, Miller CM, Hasadsri L, Llano D, Rubin R, Zimmerman J, Johnson C, Sutton B. A novel head-neck cooling device for concussion injury in contact sports. Transl Neurosci. 2015; 6 (1):20-31 Epub 2015 Jan 14
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  37. Hasadsri L, Wang BH, Lee JV, Erdman JW, Llano DA, Barbey AK, Wszalek T, Sharrock MF, Wang HJ. Omega-3 fatty acids as a putative treatment for traumatic brain injury. J Neurotrauma. 2013 Jun 1; 30 (11):897-906 Epub 2013 June 05
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  38. Hasadsri L, Lee J, Wang BH, Yekkirala L, Wang M. Anti-yo associated paraneoplastic cerebellar degeneration in a man with large cell cancer of the lung. Case Rep Neurol Med. 2013; 2013:725936 Epub 2013 Sept 19
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  39. Wang BH, Hasadsri L, Wang H. Abdominal cerebrospinal fluid pseudocyst mimicking full-term pregnancy. J Surg Case Rep.2012;7:(6)
  40. Yang ML, Hasadsri L, Woods WS, George JM. Dynamic transport and localization of alpha-synucleinin primary hippocampal neurons. Molecular Neurodegeneration. February 2010; 5:9-20.
  41. Alaux C, Sinha S, Hasadsri L, Hunt GJ, Guzman-Novoa E, DeGrandi-Hoffman G, Uribe-Rubio JL, Southey BR, Rodriguez-Zas S, Robinson GE. Honey bee aggression supports a link between gene regulation and behavioral evolution. Proc Natl Acad Sci U S A. 2009 Sep 8; 106(36):15400-5. Epub 2009 Aug 21.
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  42. Dong S, Replogle KL, Hasadsri L, Imai BS, Yau PM, Rodriguez-Zas S, Southey BR, Sweedler JV, Clayton DF. Discrete molecular states in the brain accompany changing responses to a vocal signal. Proc Natl Acad Sci U S A. 2009 Jul 7; 106(27):11364-9. Epub 2009 Jun 18
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  43. Hasadsri L, Kreuter J, Hattori H, Iwasaki T, George JM. Functional protein delivery into neurons using polymeric nanoparticles. J Biol Chem. 2009 Mar 13; 284(11):6972-81. Epub 2009 Jan 07.
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  44. Hasadsri L. The multi-faceted implications of preimplantation genetic testing. Princet J Bioeth. 1998 Spring; 1(1):76-82.
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  45. Hasadsri L. Preimplantation genetic testing: Neither doomsday machine nor panacea for potential parents. EUBIOS Journal of Asian and International Bioethics. 1998; 4:80-84.