Publicaciones Imprimir Stander Z, White AL, Lynch M, Coman D, Rosati J, Bailey D, Johnson J, Lee BH, Fong C, Orsini J, Schultz MJ, Oglesbee D, Gavrilov D, Matern D, Hall PL, Tortorelli S. COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I. Int J Neonatal Screen. 2026 Apr 17; 12 (2) View PubMed Hall PL, White AL, Peck D, Pino G, Studinski A, Gavrilov D, Oglesbee D, Schultz MJ, Tortorelli S, Matern D. Two-tiered newborn screening for infantile Krabbe disease allows timely treatment initiation and avoids false-positive results. Genet Med. 2026 Apr; 28 (4):101572 Epub 2025 Aug 29 View PubMed Garapati K, Chavan S, Bellad A, Venkataraman S, Oglesbee D, Chakraborty R, Wick MJ, Girard S, Pandey A. Hemoglobin alpha-like subunit mu is expressed during ontogeny and is elevated in alpha thalassemia. Blood Red Cells Iron. 2026 Mar; 2 (1) Epub 2026 Feb 03 View PubMed Cook SL, Mensa T, Noma H, Jahnke M, Vidal-Folch N, Stout C, Hrstka RF, Hrstka SCL, Kirkeby L, Oglesbee D, Hasadsri L, Selcen D, Staff NP. Clinically discordant siblings with spinal muscular atrophy: insights from their patient-specific iPSC-derived motor neurons and literature review. Neuromuscul Disord. 2026 Feb; 59:106310 Epub 2025 Dec 13 View PubMed Khoja IT, Peck DS, Gavrilov DK, McPheron MA, Oglesbee D, Bentz Pino G, Sapp KL, Schultz MJ, Studinski Jones AL, White AL, Tortorelli S, Matern D, Hall PL. Reduction of false-positive results with biochemical second-tier testing for newborn screening of Pompe disease. Genet Med. 2026 Jan; 28 (1):101604 Epub 2025 Oct 10 View PubMed Ding Q, Salsbery KT, Vidal-Folch N, Oglesbee D, Hasadsri L. Prenatal Testing of a Complex Pathogenic Variant following Positive Carrier Screening for Gaucher Disease. Clin Chem. 2025 Dec 30; 72 (1):11-15 View PubMed Bontrager JE, White AL, Brigatti KW, Laxen W, Loken PR, Grider T, Oglesbee D, Gavrilov DK, Tortorelli S, Hall PL, Matern D, Lauer E, Pickart A, Salsbery K, Niu Z, Smith C, Albright A, Mukherjee-Clavin B, Parmar P, Mhoon J, Massie R, Pilon-Cadieux C, Gauthier A, Alawneh J, Emilie Nguyen CT, Shy ME, Koehler AE, Carson VJ, Herrmann DN, Schultz MJ. Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy. Neurology. 2025 Dec 9; 105 (11):e214425 Epub 2025 Nov 12 View PubMed Pino GB, Quade MA, Schultz MJ, White AL, Peck DS, Studinski Jones AL, Gavrilov DK, Oglesbee D, Tortorelli S, Matern D, Hall PL. Clinical utility of untargeted urine oligosaccharide screening. Mol Genet Metab. 2025 Dec; 146 (4):109267 Epub 2025 Oct 24 View PubMed Schultz MJ, Hall PL, Pino GB, White AL, Peck DS, Studinski AL, Thies JM, Gavrilov D, Oglesbee D, Tortorelli S, Matern D. Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches. J Inherit Metab Dis. 2025 Nov; 48 (6):e70093 View PubMed Rao S, Schultz M, Lesmana E, Oglesbee D, Absah I, Grover M. Clinical Insights Into Disaccharidase Deficiency: Prevalence, Intestinal Histology, and Outcomes. Mayo Clin Proc. 2025 Oct 31 [Epub ahead of print] View PubMed Miller MJ, Duque Lasio ML, Kennedy AD, McClellan R, Oglesbee D, Smith WE, Sutton VR, Cowan T, ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net. The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2025 Oct; 27 (10):101493 Epub 2025 July 18 View PubMed Ding Q, Balan J, Vidal-Folch N, Pickart AM, Sun G, Walsh JR, Majumdar R, Klee EW, Murphy SJ, Oglesbee D, Rowsey RA, Hasadsri L. Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencing. Genet Med. 2025 Oct; 27 (10):101539 Epub 2025 Aug 05 View PubMed Gnanaolivu R, Saha N, Vidal-Folch N, Tan J, Li F, McClelland S, Niu Z, Oglesbee D, Wang C. Clinical Assessment of Next-Generation Sequencing Probe Reproducibility in Short-Read Sequencing (ClinRay) Using Digital Twins. J Mol Diagn. 2025 Sep; 27 (9):899-912 View PubMed 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 View PubMed 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 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 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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. View PubMed 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. View PubMed 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 View PubMed 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. View PubMed 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 View PubMed 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. View PubMed 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. View PubMed 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. View PubMed 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 View PubMed Morava E, Oglesbee D. Laboratory and metabolic investigations. Handb Clin Neurol. 2023; 194:167-172 View PubMed 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 View PubMed 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 View PubMed 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. View PubMed Byeon SK, Ramarajan MG, Madugundu AK, Oglesbee D, Vernon HJ, Pandey A. High-resolution mass spectrometric analysis of cardiolipin profiles in Barth syndrome. Mitochondrion. 2021 Sep; 60:27-32 Epub 2021 July 15 View PubMed Perales-Clemente E, Liedtke K, Studinski A, Radenkovic S, Gavrilov D, Oglesbee D, Matern D, Rinaldo P, Tortorelli S, Morava E, Raymond K. A new D-galactose treatment monitoring index for PGM1-CDG. J Inherit Metab Dis. 2021 Sep; 44 (5):1263-1271 Epub 2021 June 22 View PubMed Guenzel AJ, Hall PL, Scott AI, Lam C, Chang IJ, Thies J, Ferreira CR, Pichurin P, Laxen W, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Matern D, Tortorelli S. The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses. JIMD Rep. 2021 Jul; 60(1):67-74. Epub 2021 Apr 05. View PubMed Mousa OY, Juran BD, McCauley BM, Vesterhus MN, Folseraas T, Turgeon CT, Ali AH, Schlicht EM, Atkinson EJ, Hu C, Harnois D, Carey EJ, Gossard AA, Oglesbee D, Eaton JE, LaRusso NF, Gores GJ, Karlsen TH, Lazaridis KN. Bile Acid Profiles in Primary Sclerosing Cholangitis and Their Ability to Predict Hepatic Decompensation. Hepatology. 2021 Jul; 74 (1):281-295 Epub 2021 June 15 View PubMed Preston G, Emmerzaal T, Radenkovic S, Lanza IR, Oglesbee D, Morava E, Kozicz T. Cerebellar and multi-system metabolic reprogramming associated with trauma exposure and post-traumatic stress disorder (PTSD)-like behavior in mice. Neurobiol Stress. 2021 May; 14:100300 Epub 2021 Jan 23 View PubMed Perales-Clemente E, Hewitt AL, Studinski AL, Tillema JM, Laxen WJ, Oglesbee D, Graff AH, Rinaldo P, Lanpher BC. Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria. JIMD Rep. 2021 Mar; 58 (1):21-28 Epub 2020 Nov 20 View PubMed Qureshi MY, Patterson MC, Clark V, Johnson JN, Moutvic MA, Driscoll SW, Kemppainen JL, Huston J 3rd, Anderson JR, Badley AD, Tebben PJ, Wackel P, Oglesbee D, Glockner J, Schreiner G, Dugar S, Touchette JC, Gavrilova RH. Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective study. J Inherit Metab Dis. 2021 Mar; 44 (2):502-514 Epub 2020 Aug 31 View PubMed Miller MJ, Cusmano-Ozog K, Oglesbee D, Young S, ACMG Laboratory Quality Assurance Committee. Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Feb; 23 (2):249-258 Epub 2020 Oct 19 View PubMed Sharma R, Reinstadler B, Engelstad K, Skinner OS, Stackowitz E, Haller RG, Clish CB, Pierce K, Walker MA, Fryer R, Oglesbee D, Mao X, Shungu DC, Khatri A, Hirano M, De Vivo DC, Mootha VK. Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity. J Clin Invest. 2021 Jan 19; 131 (2) View PubMed Poskanzer SA, Schultz MJ, Turgeon CT, Vidal-Folch N, Liedtke K, Oglesbee D, Gavrilov DK, Tortorelli S, Matern D, Rinaldo P, Bennett JT, Thies JM, Chang IJ, Beck AE, Raymond K, Allenspach EJ, Lam C. Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature. Am J Med Genet A. 2021 Jan; 185(1):213-218. Epub 2020 Oct 12. View PubMed Blackburn PR, Carter JM, Oglesbee D, Westendorf JJ, Neff BA, Stichel D, Tsen DW, Gavrilova RH, Wesseling P, von Deimling A, Caulfield TR, Klee EW, Pusch S, Inwards CY. An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid. HGG Adv. 2020 Oct 22; 1 (1):100006 Epub 2020 Aug 24 View PubMed Schultz MJ, Netzel BC, Singh RH, Pino GB, Gavrilov DK, Oglesbee D, Raymond KM, Rinaldo P, Tortorelli S, Smith WE, Matern D. Laboratory monitoring of patients with hereditary tyrosinemia type I. Mol Genet Metab. 2020 Aug; 130 (4):247-254 Epub 2020 June 06 View PubMed South ST, McClure M, Astbury C, Bashford MT, Benkendorf J, Esplin ED, Monaghan KG, Oglesbee D, Sutton VR, Watson MS, ACMG Laboratory Quality Assurance and the Professional Practice and Guidelines Committees. Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 Jun; 22 (6):983-985 Epub 2020 Mar 04 View PubMed Guenzel AJ, Turgeon CT, Nickander KK, White AL, Peck DS, Pino GB, Studinski AL, Prasad VK, Kurtzberg J, Escolar ML, Lasio MLD, Pellegrino JE, Sakonju A, Hickey RE, Shallow NM, Ream MA, Orsini JJ, Gelb MH, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Tortorelli S, Matern D. The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease. Genet Med. 2020 Jun; 22 (6):1108-1118 Epub 2020 Feb 24 View PubMed Gavrilov DK, Piazza AL, Pino G, Turgeon C, Matern D, Oglesbee D, Raymond K, Tortorelli S, Rinaldo P. The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism. Int J Neonatal Screen. 2020 Jun; 6(2):33. Epub 2020 Apr 10. View PubMed Sanders KA, Gavrilov DK, Oglesbee D, Raymond KM, Tortorelli S, Hopwood JJ, Lorey F, Majumdar R, Kroll CA, McDonald AM, Lacey JM, Turgeon CT, Tucker JN, Tang H, Currier R, Isaya G, Rinaldo P, Matern D. A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders. Int J Neonatal Screen. 2020 Jun; 6 (2) Epub 2020 May 30 View PubMed Klein Gunnewiek TM, Van Hugte EJH, Frega M, Guardia GS, Foreman K, Panneman D, Mossink B, Linda K, Keller JM, Schubert D, Cassiman D, Rodenburg R, Vidal Folch N, Oglesbee D, Perales-Clemente E, Nelson TJ, Morava E, Nadif Kasri N, Kozicz T. m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity. Cell Rep. 2020 Apr 21; 31 (3):107538 View PubMed McGregor TL, Hunt KA, Yee E, Mason D, Nioi P, Ticau S, Pelosi M, Loken PR, Finer S, Lawlor DA, Fauman EB, Huang QQ, Griffiths CJ, MacArthur DG, Trembath RC, Oglesbee D, Lieske JC, Erbe DV, Wright J, van Heel DA. Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria. Elife. 2020 Mar 24; 9 View PubMed Palomaki GE, Bupp C, Gregg AR, Norton ME, Oglesbee D, Best RG, ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee. Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020 Mar; 22 (3):462-474 Epub 2019 Nov 08 View PubMed Peck DS, Lacey JM, White AL, Pino G, Studinski AL, Fisher R, Ahmad A, Spencer L, Viall S, Shallow N, Siemon A, Hamm JA, Murray BK, Jones KL, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P, Tortorelli S. Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. Int J Neonatal Screen. 2020 Mar; 6 (1):10 Epub 2020 Feb 07 View PubMed Peck DS, Lacey JM, White AL, Pino G, Studinski AL, Fisher R, Ahmad A, Spencer L, Viall S, Shallow N, Siemon A, Hamm JA, Murray BK, Jones KL, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P, Tortorelli S. Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. Int J Neonatal Screen. 2020 Feb 7; 6 (1) Epub 2020 Feb 07 View PubMed Pino G, Conboy E, Tortorelli S, Minnich S, Nickander K, Lacey J, Peck D, Studinski A, White A, Gavrilov D, Rinaldo P, Matern D, Oglesbee D, Giugliani R, Burin M, Raymond K. Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria. Mol Genet Metab. 2020 Feb; 129 (2):106-110 Epub 2019 Nov 05 View PubMed Pierce BL, Tong L, Dean S, Argos M, Jasmine F, Rakibuz-Zaman M, Sarwar G, Islam MT, Shahriar H, Islam T, Rahman M, Yunus M, Lynch VJ, Oglesbee D, Graziano JH, Kibriya MG, Gamble MV, Ahsan H. A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh. PLoS Genet. 2019 Mar; 15 (3):e1007984 Epub 2019 Mar 20 View PubMed Oliver GR, Tang X, Schultz-Rogers LE, Vidal-Folch N, Jenkinson WG, Schwab TL, Gaonkar K, Cousin MA, Nair A, Basu S, Chanana P, Oglesbee D, Klee EW. A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease. PLoS One. 2019; 14(10):e0223337. Epub 2019 Oct 02. View PubMed Vidal-Folch N, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Oglesbee D. Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy. Clin Chem. 2018 Dec; 64 (12):1753-1761 Epub 2018 Oct 23 View PubMed Tortorelli S, Eckerman JS, Orsini JJ, Stevens C, Hart J, Hall PL, Alexander JJ, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P. Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease. Genet Med. 2018 Aug; 20 (8):840-846 Epub 2017 Nov 02 View PubMed Minter Baerg MM, Stoway SD, Hart J, Mott L, Peck DS, Nett SL, Eckerman JS, Lacey JM, Turgeon CT, Gavrilov D, Oglesbee D, Raymond K, Tortorelli S, Matern D, Morkrid L, Rinaldo P. Precision newborn screening for lysosomal disorders. Genet Med. 2018 Aug; 20 (8):847-854 Epub 2017 Nov 09 View PubMed Oglesbee D, Cowan TM, Pasquali M, Wood TC, Weck KE, Long T, Palomaki GE. CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance. Genet Med. 2018 Jan; 20 (1):83-90 Epub 2017 June 29 View PubMed Conboy E, Vairo F, Schultz M, Agre K, Ridsdale R, Deyle D, Oglesbee D, Gavrilov D, Klee EW, Lanpher B. Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features. JIMD Rep. 2018; 40:63-69 Epub 2017 Oct 14 View PubMed Majumdar R, Yori A, Rush PW, Raymond K, Gavrilov D, Tortorelli S, Matern D, Rinaldo P, Feldman GL, Oglesbee D. Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria. Mol Genet Genomic Med. 2017 Nov; 5(6):795-799. Epub 2017 Sep 11. View PubMed Vidal-Folch N, Milosevic D, Majumdar R, Gavrilov D, Matern D, Raymond K, Rinaldo P, Tortorelli S, Abraham RS, Oglesbee D. A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening. J Mol Diagn. 2017 Sep; 19(5):755-765. View PubMed Morbeck DE, Baumann NA, Oglesbee D. Composition of single-step media used for human embryo culture. Fertil Steril. 2017 Apr; 107 (4):1055-1060.e1 Epub 2017 Feb 24 View PubMed Frye MA, Ryu E, Nassan M, Jenkins GD, Andreazza AC, Evans JM, McElroy SL, Evans JM, Oglesbee D Jr, Highsmith WE, Biernacka JM. Mitochondrial DNA sequence data reveals association of haplogroup U with psychosis in bipolar disorder. J Psychiatr Res. 2017 Jan; 84:221-226 Epub 2016 Sept 30 View PubMed Blackburn PR, Hickey RD, Nace RA, Giama NH, Kraft DL, Bordner AJ, Chaiteerakij R, McCormick JB, Radulovic M, Graham RP, Torbenson MS, Tortorelli S, Scott CR, Lindor NM, Milliner DS, Oglesbee D, Al-Qabandi W, Grompe M, Gavrilov DK, El-Youssef M, Clark KJ, Atwal PS, Roberts LR, Klee EW, Ekker SC. Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma. Hum Mutat. 2016 Oct; 37 (10):1097-105 Epub 2016 Aug 08 View PubMed Perales-Clemente E, Cook AN, Evans JM, Roellinger S, Secreto F, Emmanuele V, Oglesbee D, Mootha VK, Hirano M, Schon EA, Terzic A, Nelson TJ. Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability. EMBO J. 2016 Sep 15; 35 (18):1979-90 Epub 2016 July 19 View PubMed Tortorelli S, Turgeon CT, Gavrilov DK, Oglesbee D, Raymond KM, Rinaldo P, Matern D. Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry. Clin Chem. 2016 Sep; 62 (9):1248-54 Epub 2016 July 20 View PubMed Wong D, Tortorelli S, Bishop L, Sellars EA, Schimmenti LA, Gallant N, Prada CE, Hopkin RJ, Leslie ND, Berry SA, Rosenblatt DS, Fair AL, Matern D, Raymond K, Oglesbee D, Rinaldo P, Gavrilov D. Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening. Genet Med. 2016 Feb; 18 (2):162-7 Epub 2015 Apr 09 View PubMed Turgeon CT, Orsini JJ, Sanders KA, Magera MJ, Langan TJ, Escolar ML, Duffner P, Oglesbee D, Gavrilov D, Tortorelli S, Rinaldo P, Raymond K, Matern D. Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease. J Inherit Metab Dis. 2015 Sep; 38 (5):923-9 Epub 2015 Mar 12 View PubMed Baudhuin LM, Lagerstedt SA, Klee EW, Fadra N, Oglesbee D, Ferber MJ. Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing. J Mol Diagn. 2015 Jul; 17 (4):456-61 Epub 2015 May 08 View PubMed Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Newborn screening for lysosomal storage disorders. Semin Perinatol. 2015 Apr; 39: (3)206-16. View PubMed Turgeon CT, Moser AB, Morkrid L, Magera MJ, Gavrilov DK, Oglesbee D, Raymond K, Rinaldo P, Matern D, Tortorelli S. Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy. Mol Genet Metab. 2015 Jan; 114 (1):46-50 Epub 2014 Nov 27 View PubMed 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 View PubMed 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. View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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. View PubMed 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 View PubMed 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. View PubMed 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 View PubMed 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 View PubMed 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 View PubMed 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. View PubMed 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 View PubMed 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. View PubMed 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 View PubMed 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 View PubMed 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 View PubMed Oglesbee D, Tortorelli S. Newborn screening for a prevalent metabolic defect: an Update on MCAD deficiency. ASCP Check Sample: Clinical Chemistry. 2007 Jun. 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 View PubMed 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 View PubMed 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 View PubMed Oglesbee D. An overview of peroxisomal biogenesis disorders. Mol Genet Metab. 2005 Apr; 84 (4):299-301 View PubMed 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. View PubMed 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. 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. View PubMed 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. View PubMed PST-20513171 Inicio Publicaciones