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Devin Oglesbee, Ph.D.

  1. Medical Geneticist
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Publications

  1. Kraker JA, Stander Z, Oglesbee D, Schimmenti LA, Chen JJ. Lost in the Sauce: An Atypical Cause of Optic Neuropathy. J Neuroophthalmol. 2025 Jun 1; 45 (2):e147-e149 Epub 2024 May 14
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  2. Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M, Adams DR, Hisama FM, Shashi V, Undiagnosed Diseases Network. Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study. Am J Med Genet A. 2025 Apr; 197 (4):e63956 Epub 2024 Dec 04
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  3. Ghayal NB, Roemer SF, Tipton PW, Jiang PZ, Selner EM, Peck DS, Murakami A, Oglesbee D, Graff-Radford NR, Dickson DW. Clinical heterogeneity of neuronal ceroid lipofuscinosis type 13. Neurology-Genetics. 2025 Feb; 11 (1):e200227
  4. Ghayal NB, Roemer SF, Tipton PW, Jiang P, Selner EM, Peck DS, Murakami A, Oglesbee D, Graff-Radford NR, Dickson DW. Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of Literature. Neurol Genet. 2025 Feb; 11 (1):e200227 Epub 2024 Dec 23
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  5. Quinlan A, Rodan L, Barkoudah E, Tam A, Saffari A, Shammas I, Ranatunga W, Morava-Kozicz E, Oglesbee D, Berry G, Ebrahimi-Fakhari D, Srivastava S. Case Report of Friedreich's Ataxia and ALG1 -Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. Am J Med Genet A. 2025 Feb; 197 (2):e63890 Epub 2024 Sept 26
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  6. Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH, Bademci G, Tekin M, Undiagnosed Diseases Network NIH. KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3. J Med Genet. 2025 Jan 27; 62 (2):117-122
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  7. Fernandez AC, Estrella J, Oglesbee D, Larson AA, Van Hove JLK. The clinical utility in hospital-wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA-related disorders. J Inherit Metab Dis. 2025 Jan; 48 (1):e12821 Epub 2024 Nov 24
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  8. Ezell KM, Furuta Y, Oglesbee D, Pivnick EK, Rinker D, Sheehan JH, Tinker RJ, Hamid R, Cogan JD, Rives L, Neumann S, Corner B, Koziura M, Phillips JA 3rd, Undiagnosed Diseases Network. Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition. Mol Genet Metab Rep. 2024 Dec; 41:101145 Epub 2024 Oct 05
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  9. Furuta Y, Tinker RJ, Hamid R, Cogan JD, Ezell KM, Oglesbee D, DeBerardinis RJ, Phillips JA 3rd, Undiagnosed Diseases Network. A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases. Orphanet J Rare Dis. 2024 Nov 14; 19 (1):427
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  10. Byeon SK, Kim J, Wegwerth PJ, Zenka R, George JP, Pinto E Vairo F, Oglesbee D, Schultz MJ, Matern D, Pandey A. Development of a Multiplexed Sphingolipids Method for Diagnosis of Inborn Errors of Ceramide Metabolism. Clin Chem. 2024 Nov 04; 70(11):1366-1374.
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  11. Kim J, Byeon SK, Oglesbee D, Schultz MJ, Matern D, Pandey A. A multiplexed targeted method for profiling of serum gangliosides and glycosphingolipids: application to GM2-gangliosidosis. Anal Bioanal Chem. 2024 Nov; 416(26):5689-5699. Epub 2024 Aug 27.
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  12. Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO, Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wunsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024 Nov; 160:45-53 Epub 2024 July 20
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  13. Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H, Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26 (11):101218 Epub 2024 July 19
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  14. Mulvihill JJ, Findley L, Ni W, Sinsheimer JS, Cole FS, Esteves C, Bernstein JA, Newman JH, Wheeler MT, Mokry JR. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones. Genet Med. 2024 Oct; 26 (10):101203 Epub 2024 July 02
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  15. Turgeon C, Casas K, Flanagan R, White A, Peck D, Pino GB, Jones AS, Gavrilov D, Oglesbee D, Schultz MJ, Tortorelli S, Matern D, Hall PL. Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase. Mol Genet Metab Rep. 2024 Sep; 40:101110 Epub 2024 June 21
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  16. Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A, Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. Genet Med. 2024 Sep; 26 (9):101174 Epub 2024 June 03
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  17. Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA, Liu B, Majer O, Barton GM. Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. J Exp Med. 2024 Aug 5; 221 (8) Epub 2024 May 23
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  18. Pucel J, Briere LC, Reuter C, Gochyyev P, LeBlanc K. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis. Genet Med. 2024 Jun; 26 (6):101115 Epub 2024 Mar 01
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  19. Sanders K, Peck D, Bentz Pino G, Studinski Jones A, White A, Gavrilov D, Matern D, Oglesbee D, Schultz M, Tortorelli S, Hall PL. SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations. Mol Genet Metab. 2024 May; 142 (1):108455 Epub 2024 Mar 24
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  20. Dohrn MF, Bademci G, Rebelo AP, Jeanne M, Borja NA, Beijer D, Danzi MC, Bivona SA, Gueguen P, Zafeer MF, Tekin M, Zuchner S. Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism. Ann Clin Transl Neurol. 2024 Apr; 11 (4):1075-1079 Epub 2024 Mar 19
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  21. Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P, Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. De novo variants in DENND5B cause a neurodevelopmental disorder. Am J Hum Genet. 2024 Mar 7; 111 (3):529-543 Epub 2024 Feb 21
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  22. Donkervoort S, Mohassel P, O'Leary M, Bonner DE, Hartley T, Acquaye N, Brull A, Mozaffar T, Saporta MA, Dyment DA, Sampson JB, Pajusalu S, Austin-Tse C, Hurth K, Cohen JS, McWalter K, Warman-Chardon J, Crunk A, Foley AR, Mammen AL, Wheeler MT, O'Donnell-Luria A, Bonnemann CG. Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Ann Clin Transl Neurol. 2024 Mar; 11 (3):629-640 Epub 2024 Feb 04
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  23. Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W, Khokha MK, Bonnemann CG, Lucas CL, Lakhani SA. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections. Genet Med. 2024 Feb; 26 (2):101023 Epub 2023 Nov 07
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  24. Lu J, Toro C, Adams DR, Moreno CAM, Lee WP, Leung YY, Harms MB, Vardarajan B, Heinzen EL. LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants. BMC Genomics. 2024 Jan 26; 25 (1):115
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  25. Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Le Pichon JB, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Denomme-Pichon AS, Koh HY, Poduri A, Bolton J, Knopp C, Julia Suh DS, Maier A, Toosi MB, Karimiani EG, Maroofian R, Schaefer GB, Ramakumaran V, Vasudevan P, Prasad C, Osmond M, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Bacino CA, Lee BH, Chao HT. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3. Am J Hum Genet. 2024 Jan 4; 111 (1):96-118
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  26. Wurth R, Turgeon C, Stander Z, Oglesbee D. An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism. Mol Genet Metab. 2024 Jan; 141 (1):108115 Epub 2023 Dec 15
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  27. Cook SL, Stout C, Kirkeby L, Vidal-Folch N, Oglesbee D, Hasadsri L, Selcen D, Milone M, Anderson D, Staff NP. SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts. Front Genet. 2024; 15:1406819. Epub 2024 Jul 30.
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  28. Hall PL, Liedke K, Turgeon C, White A, Pino GB, Peck D, Studinski A, Gavrilov D, Tortorelli S, Oglesbee D, Matern D, Raymond K, Schultz MJ. Sensitivity of transferrin isoform analysis for PMM2-CDG. Mol Genet Metab. 2024 Sep-Oct; 143(1-2):108564. Epub 2024 Aug 11.
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  29. Ward SK, Wadley A, Tsai CA, Benke PJ, Emrick L, Fisher K, Houck KM, Dai H, Guillen Sacoto MJ, Craigen W, Glaser K, Murdock DR, Rohena L, Diderich KEM, Bruggenwirth HT, Lee B, Bacino C, Burrage LC, Rosenfeld JA. De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities. Am J Med Genet A. 2024 Jan; 194 (1):17-30 Epub 2023 Sept 25
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  30. Wegwerth PJ, White AL, Stoway SD, Loken PR, Oglesbee D, Matern D, Tortorelli S, Raymond KM, Braverman NE, Gavrilov DK. A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders. J Inherit Metab Dis. 2023 Nov; 46(6):1159-1169. Epub 2023 Oct 31.
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  31. Mohajeri A, Vaseghi-Shanjani M, Rosenfeld JA, Yang GX, Lu H, Sharma M, Lin S, Salman A, Waqas M, Sababi Azamian M, Worley KC, Del Bel KL, Kozak FK, Rahmanian R, Biggs CM, Hildebrand KJ, Lalani SR, Nicholas SK, Scott DA, Mostafavi S, van Karnebeek C, Henkelman E, Halparin J, Yang CL, Armstrong L, Turvey SE, Lehman A. Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay. J Med Genet. 2023 Nov; 60 (11):1092-1104 Epub 2023 June 14
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  32. Koop K, Yuan W, Tessadori F, Rodriguez-Polanco WR, Grubbs J, Zhang B, Osmond M, Graham G, Sawyer S, Conboy E, Vetrini F, Treat K, Ploski R, Pienkowski VM, Klosowska A, Fieg E, Krier J, Mallebranche C, Alban Z, Aldinger KA, Ritter D, Macnamara E, Sullivan B, Herriges J, Alaimo JT, Helbig C, Ellis CA, van Eyk C, Gecz J, Farrugia D, Osei-Owusu I, Ades L, van den Boogaard MJ, Fuchs S, Bakker J, Duran K, Dawson ZD, Lindsey A, Huang H, Baldridge D, Silverman GA, Grant BD, Raizen D, van Haaften G, Pak SC, Rehmann H, Schedl T, van Hasselt P. Macrocephaly and developmental delay caused by missense variants in RAB5C. Hum Mol Genet. 2023 Oct 17; 32 (21):3063-3077
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  33. Halley MC, Young JL, Tang C, Mintz KT, Lucas-Griffin S, Maghiro A, Ashley EA, Tabor HK. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care. J Pediatr. 2023 Oct; 261:113537 Epub 2023 June 02
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  34. McConkie-Rosell A, Spillmann RC, Schoch K, Sullivan JA, Walley N, McDonald M, Hooper SR, Shashi V. Unraveling non-participation in genomic research: A complex interplay of barriers, facilitators, and sociocultural factors. J Genet Couns. 2023 Oct; 32 (5):993-1008 Epub 2023 Apr 02
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  35. Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C, Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy. Genet Med. 2023 Sep; 25 (9):100897 Epub 2023 May 13
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  36. Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D, Elgersma Y, van Esbroeck ACM. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. Am J Hum Genet. 2023 Aug 3; 110 (8):1414-1435
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  37. Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J, Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. De novo missense variants in phosphatidylinositol kinase PIP5KIgamma underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling. Am J Hum Genet. 2023 Aug 3; 110 (8):1377-1393 Epub 2023 July 13
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  38. Borja N, Borjas-Mendoza P, Bivona S, Peart L, Gonzalez J, Johnson BK, Guo S, Yusupov R, Bademci G, Tekin M. H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome. Am J Med Genet A. 2023 Jul; 191 (7):1911-1916 Epub 2023 Mar 29
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  39. Pujol-Gimenez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M, Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. Ann Clin Transl Neurol. 2023 Jun; 10 (6):1046-1053 Epub 2023 May 16
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  40. Andrews JC, Mok JW, Kanca O, Jangam S, Tifft C, Macnamara EF, Russell BE, Wang LK, Nelson SF, Bellen HJ, Yamamoto S, Malicdan MCV, Wangler MF. De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features. Genet Med. 2023 Jun; 25 (6):100833 Epub 2023 Mar 31
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  41. Tekin B, Dasari S, Theis JD, Vrana JA, Murray DL, Oglesbee D, Thompson RH, Leibovich BC, Boorjian SA, Whaley RD, Hernandez LH, Jimenez RE, Cheville JC, Karnes RJ, Sukov WR, Gupta S. Mass spectrometry-based assessment of prostate cancer-associated crystalloids reveals enrichment for growth and differentiation factor 15. Hum Pathol. 2023 May; 135:35-44 Epub 2023 Mar 09
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  42. Srivastava S, Shaked HM, Gable K, Gupta SD, Pan X, Somashekarappa N, Han G, Mohassel P, Gotkine M, Doney E, Goldenberg P, Tan QKG, Gong Y, Kleinstiver B, Wishart B, Cope H, Pires CB, Stutzman H, Spillmann RC, Undiagnosed Disease Network , Sadjadi R, Elpeleg O, Lee CH, Bellen HJ, Edvardson S, Eichler F, Dunn TM. SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia. Brain. 2023 Apr 19; 146(4):1420-1435.
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  43. Rosenfeld LE, LeBlanc K, Nagy A, Ego BK, McCray AT. Participation in a national diagnostic research study: assessing the patient experience. Orphanet J Rare Dis. 2023 Apr 10; 18 (1):73
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  44. Spillmann RC, Tan QK, Reuter C, Schoch K, Kohler J, Bonner D, Zastrow D, Alkelai A, Baugh E, Cope H, Marwaha S, Wheeler MT, Bernstein JA, Shashi V. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network. Genet Med. 2023 Apr; 25 (4):100353 Epub 2022 Dec 05
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  45. Morimoto M, Bhambhani V, Gazzaz N, Davids M, Sathiyaseelan P, Macnamara EF, Lange J, Lehman A, Zerfas PM, Murphy JL, Acosta MT, Wang C, Alderman E, Reichert S, Thurm A, Adams DR, Introne WJ, Gorski SM, Boerkoel CF, Gahl WA, Tifft CJ, Malicdan MCV. Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment. NPJ Genom Med. 2023 Feb 10; 8 (1):4
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  46. Miller IM, Yashar BM, Macnamara EF. Continuing a search for a diagnosis: the impact of adolescence and family dynamics. Orphanet J Rare Dis. 2023 Jan 9; 18 (1):6 Epub 2023 Jan 09
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  47. Morava E, Oglesbee D. Laboratory and metabolic investigations. Handb Clin Neurol. 2023; 194:167-172
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  48. Sabharwal A, Wishman MD, Cervera RL, Serres MR, Anderson JL, Holmberg SR, Kar B, Treichel AJ, Ichino N, Liu W, Yang J, Ding Y, Deng Y, Lacey JM, Laxen WJ, Loken PR, Oglesbee D, Farber SA, Clark KJ, Xu X, Ekker SC. Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality. Elife. 2022 Nov 21; 11
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  49. Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H, Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schliesske S, Shashi V, Srivastava S, Thiffault I, Topol S, Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome. Brain. 2022 Oct 21; 145 (10):3383-3390
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  50. Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Kone-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL. Gain-of-function mutations in ALPK1 cause an NF-kappaB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Ann Rheum Dis. 2022 Oct; 81 (10):1453-1464 Epub 2022 July 22
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  51. Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P, Ariani F, Renieri A, Mari F, Wangler MF, Arur S, Jiang YH, Yamamoto S, Shashi V, Bellen HJ. The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Hum Mol Genet. 2022 Aug 25; 31 (17):2934-2950
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  52. Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Horberg J, AlAbdi L, Mayer K, Utkur K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. Genet Med. 2022 Jul; 24 (7):1567-1582 Epub 2022 Apr 28
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  53. 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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  54. Borja N, Bivona S, Peart LS, Johnson B, Gonzalez J, Barbouth D, Moore H, Guo S, Bademci G, Tekin M. Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. Mol Genet Genomic Med. 2022 Apr; 10 (4):e1892 Epub 2022 Mar 05
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  55. Kohler JN, Glanton E, Boyd BM, Sillari CH, Marwaha S, Wheeler MT. Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation. J Genet Couns. 2022 Apr; 31 (2):326-337 Epub 2021 Aug 10
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  56. McConkie-Rosell A, Schoch K, Sullivan J, Spillmann RC, Cope H, Tan QK, Palmer CGS, Hooper SR, Shashi V. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples. J Genet Couns. 2022 Feb; 31 (1):59-70 Epub 2021 June 11
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  57. Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E. Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications. Ann Neurol. 2021 Dec; 90(6):887-900. Epub 2021 Oct 26.
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  117. Deutsch EC, Oglesbee D, Greeley NR, Lynch DR. Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia. J Neurol Neurosurg Psychiatry. 2014 Sep; 85 (9):994-1002 Epub 2014 Jan 24
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  118. Oglesbee D, Kroll C, Gakh O, Deutsch EC, Lynch DR, Gavrilova R, Tortorelli S, Raymond K, Gavrilov D, Rinaldo P, Matern D, Isaya G. High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood. Clin Chem. 2013 Oct; 59(10):1461-9. Epub 2013 Jul 09.
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  119. Hall P, Michels V, Gavrilov D, Matern D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome. Mol Genet Metab. 2013 Sep-Oct; 110 (1-2):176-8 Epub 2013 Apr 10
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  120. Folmes CD, Martinez-Fernandez A, Perales-Clemente E, Li X, McDonald A, Oglesbee D, Hrstka SC, Perez-Terzic C, Terzic A, Nelson TJ. Disease-causing mitochondrial heteroplasmy segregated within induced pluripotent stem cell clones derived from a patient with MELAS. Stem Cells. 2013 Jul; 31 (7):1298-308
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  121. Matern D, Oglesbee D, Tortorelli S. Newborn screening for lysosomal storage disorders and other neuronopathic conditions. Dev Disabil Res Rev. 2013; 17 (3):247-53
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  122. Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Barath A, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H, Vilarinho L, John C, Lim J, Caldwell SG, Tomashitis K, Castineiras Ramos DE, Cocho de Juan JA, Rueda Fernandez I, Yahyaoui Macias R, Egea-Mellado JM, Gonzalez-Gallego I, Delgado Pecellin C, Garcia-Valdecasas Bermejo MS, Chien YH, Hwu WL, Childs T, McKeever CD, Tanyalcin T, Abdulrahman M, Queijo C, Lemes A, Davis T, Hoffman W, Baker M, Hoffman GL. Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med. 2012 Jul; 14 (7):648-55 Epub 2012 Feb 16
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  123. Pont-Kingdon G, Gedge F, Wooderchak-Donahue W, Schrijver I, Weck KE, Kant JA, Oglesbee D, Bayrak-Toydemir P, Lyon E, Biochemical and Molecular Genetic Resource Committee of the College of American Pathologists. Design and analytical validation of clinical DNA sequencing assays. Arch Pathol Lab Med. 2012 Jan; 136(1):41-6.
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  124. Ali Pervaiz M, Patterson MC, Struys EA, Salomons GS, Jakobs C, Oglesbee D, Kirmani S. Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria. J Neurol 2011 Aug; 258 (8):1564-5 Epub 2011 Mar 08
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  125. Kochar O, Wick MR, Kerr SE, Oglesbee D, Cathro HP. Unexpected Fabry disease in a renal allograft kidney: an underrecognized cause of poor allograft function. Ultrastruct Pathol. 2011 Apr; 35(2):92-6.
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  126. McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Ahlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Bryant SC, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Bryant SC, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J, Ibarra-Gonzalez I, Ingham CA, Ivanova M, Jacox WB, John C, Johnson JP, Jonsson JJ, Karg E, Kasper D, Klopper B, Katakouzinos D, Khneisser I, Knoll D, Kobayashi H, Koneski R, Kozich V, Kouapei R, Kohlmueller D, Kremensky I, la Marca G, Lavochkin M, Lee SY, Lehotay DC, Lemes A, Lepage J, Lesko B, Lewis B, Lim C, Linard S, Lindner M, Lloyd-Puryear MA, Lorey F, Loukas YL, Luedtke J, Maffitt N, Magee JF, Manning A, Manos S, Marie S, Hadachi SM, Marquardt G, Martin SJ, Matern D, Mayfield Gibson SK, Mayne P, McCallister TD, McCann M, McClure J, McGill JJ, McKeever CD, McNeilly B, Morrissey MA, Moutsatsou P, Mulcahy EA, Nikoloudis D, Norgaard-Pedersen B, Oglesbee D, Oltarzewski M, Ombrone D, Ojodu J, Papakonstantinou V, Reoyo SP, Park HD, Pasquali M, Pasquini E, Patel P, Pass KA, Peterson C, Pettersen RD, Pitt JJ, Poh S, Pollak A, Porter C, Poston PA, Price RW, Queijo C, Quesada J, Randell E, Ranieri E, Raymond K, Reddic JE, Reuben A, Ricciardi C, Rinaldo P, Rivera JD, Roberts A, Rocha H, Roche G, Greenberg CR, Mellado JM, Juan-Fita MJ, Ruiz C, Ruoppolo M, Rutledge SL, Ryu E, Saban C, Sahai I, Garcia-Blanco MI, Santiago-Borrero P, Schenone A, Schoos R, Schweitzer B, Scott P, Seashore MR, Seeterlin MA, Sesser DE, Sevier DW, Shone SM, Sinclair G, Skrinska VA, Stanley EL, Strovel ET, Jones AL, Sunny S, Takats Z, Tanyalcin T, Teofoli F, Thompson JR, Tomashitis K, Domingos MT, Torres J, Torres R, Tortorelli S, Turi S, Turner K, Tzanakos N, Valiente AG, Vallance H, Vela-Amieva M, Vilarinho L, von Dobeln U, Vincent MF, Vorster BC, Watson MS, Webster D, Weiss S, Wilcken B, Wiley V, Williams SK, Willis SA, Woontner M, Wright K, Yahyaoui R, Yamaguchi S, Yssel M, Zakowicz WM. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med. 2011 Mar; 13 (3):230-54
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  127. Smith EH, Gavrilov DK, Oglesbee D, Freeman WD, Vavra MW, Matern D, Tortorelli S. An adult onset case of alpha-methyl-acyl-CoA racemase deficiency. J Inherit Metab Dis. 2010 Dec; 33 Suppl 3:S349-53 Epub 2010 Sept 04
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  128. Turgeon CT, Magera MJ, Cuthbert CD, Loken PR, Gavrilov DK, Tortorelli S, Raymond KM, Oglesbee D, Rinaldo P, Matern D. Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. Clin Chem. 2010 Nov; 56 (11):1686-95 Epub 2010 Aug 31
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  129. Tortorelli S, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK. Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry. J Pediatr. 2010 Aug; 157: (2)271-5.
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  130. Smith EH, Thomas C, McHugh D, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Highsmith WE, Oglesbee D. Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. Mol Genet Metab. 2010 Jul; 100 (3):241-50 Epub 2010 Apr 08
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  131. Loken PR, Magera MJ, Introne W, Tortorelli S, Gavrilov D, Oglesbee D, Rinaldo P, Matern D, Raymond K. Homogentisic acid interference in routine urine creatinine determination. Mol Genet Metab. 2010 May; 100(1):103-4. Epub 2010 Jan 21.
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  132. Turgeon C, Magera MJ, Allard P, Tortorelli S, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Matern D. Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem. 2008 Apr; 54 (4):657-64 Epub 2008 Feb 15
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  133. Oglesbee D, Sanders KA, Lacey JM, Magera MJ, Casetta B, Strauss KA, Tortorelli S, Rinaldo P, Matern D. Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD). Clin Chem. 2008 Mar; 54 (3):542-9 Epub 2008 Jan 04
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  134. Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P. Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007). J Inherit Metab Dis. 2007 Aug; 30 (4):585-92 Epub 2007 July 23
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  135. Oglesbee D, Tortorelli S. Newborn screening for a prevalent metabolic defect: an Update on MCAD deficiency. ASCP Check Sample: Clinical Chemistry. 2007 Jun.
  136. Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med. 2007 Feb; 9 (2):108-16
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  137. Oglesbee D, Freedenberg D, Kramer KA, Anderson BD, Hahn SH. Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis. Pediatr Neurol. 2006 Oct; 35 (4):289-92
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  138. Kramer KA, Oglesbee D, Hartman SJ, Huey J, Anderson B, Magera MJ, Matern D, Rinaldo P, Robinson BH, Cameron JM, Hahn SH. Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts. Clin Chem. 2005 Nov; 51 (11):2110-6 Epub 2005 Sept 01
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  139. Oglesbee D. An overview of peroxisomal biogenesis disorders. Mol Genet Metab. 2005 Apr; 84 (4):299-301
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  140. Hanson GT, Aggeler R, Oglesbee D, Cannon M, Capaldi RA, Tsien RY, Remington SJ. Investigating mitochondrial redox potential with redox-sensitive green fluorescent protein indicators. J Biol Chem. 2004 Mar 26; 279(13):13044-53. Epub 2004 Jan 13.
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  141. Remington SJ, Hanson GT, Canon M, Aggeler R, Oglesbee D, Capaldi RA, Tsien RY. Third generation GFP biosensors for real time readout of pH and redox potential in living cells. Proc Soc Photo Opt Instrum Eng. 2004; 5329:1-12.
  142. Murray J, Zhang B, Taylor SW, Oglesbee D, Fahy E, Marusich MF, Ghosh SS, Capaldi RA. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. J Biol Chem. 2003 Apr 18; 278(16):13619-22. Epub 2003 Feb 28.
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  143. Capaldi RA, Aggeler R, Gilkerson R, Hanson G, Knowles M, Marcus A, Margineantu D, Marusich M, Murray J, Oglesbee D, Remington SJ, Rossignol R. A replicating module as the unit of mitochondrial structure and functioning. Biochim Biophys Acta. 2002 Sep 10; 1555(1-3):192-5.
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