المنشورات طباعة 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 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 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 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 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 Singh P, Chebib FT, Cogal AG, Gavrilov DK, Harris PC, Lieske JC. Pyridoxine Responsiveness in a Type 1 Primary Hyperoxaluria Patient With a Rare (Atypical) AGXT Gene Mutation. Kidney Int Rep. 2020 Jun; 5 (6):955-958 Epub 2020 Apr 13 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 Adhikari AN, Currier RJ, Tang H, Turgeon CT, Nussbaum RL, Srinivasan R, Sunderam U, Kwok PY, Brenner SE, Gavrilov D, Puck JM, Gallagher R. Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing. Int J Neonatal Screen. 2020 Jun; 6 (2) Epub 2020 May 26 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 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 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 Chapel-Crespo C, Gavrilov D, Sowa M, Myers J, Day-Salvatore DL, Lynn H, Regier D, Starin D, Steenari M, Schoonderwoerd K, Abdenur JE. Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients. Mol Genet Metab. 2019 Sep-Oct; 128 (1-2):113-121 Epub 2019 July 29 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 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 Nambot S, Gavrilov D, Thevenon J, Bruel AL, Bainbridge M, Rio M, Goizet C, Rotig A, Jaeken J, Niu N, Xia F, Vital A, Houcinat N, Mochel F, Kuentz P, Lehalle D, Duffourd Y, Riviere JB, Thauvin-Robinet C, Beaudet AL, Faivre L. Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data. Clin Genet. 2017 Aug; 92 (2):188-198 Epub 2017 Mar 01 View PubMed Brady CT, Giesen CD, Voskoboev N, Chirackal RS, Gavrilov DK, Flanagan RM, Lieske JC. Cyanide-Nitroprusside Colorimetric Assay: A Rapid Colorimetric Screen for Urinary Cystine. J Appl Lab Med. 2017 Jul 1; 2 (1):55-64 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 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 Lazaridis KN, Schahl KA, Cousin MA, Babovic-Vuksanovic D, Riegert-Johnson DL, Gavrilova RH, McAllister TM, Lindor NM, Abraham RS, Ackerman MJ, Pichurin PN, Deyle DR, Gavrilov DK, Hand JL, Klee EW, Stephens MC, Wick MJ, Atkinson EJ, Linden DR, Ferber MJ, Wieben ED, Farrugia G, Individualized Medicine Clinic Members. Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience. Mayo Clin Proc. 2016 Mar; 91(3):297-307. 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 Ruzkova K, Weingarten TN, Larson KJ, Friedhoff RJ, Gavrilov DK, Sprung J. Anesthesia and organic aciduria: is the use of lactated Ringer's solution absolutely contraindicated? Paediatr Anaesth. 2015 Aug; 25 (8):807-817 Epub 2015 May 05 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 Cervinski MA, Lee HK, Martin IW, Gavrilov DK. A macro-enzyme cause of an isolated increase of alkaline phosphatase. Clin Chim Acta. 2015 Feb 2; 440:169-71 Epub 2014 Nov 21 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 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 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 Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M, NIH Intramural Sequencing Center Group, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP. Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. Nat Genet. 2011 Sep; 43(9):883-6. Epub 2011 Aug 14. 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 Sarafoglou K, Bentler K, Gaviglio A, Redlinger-Grosse K, Anderson C, McCann M, Bloom B, Babovic-Vuksanovic D, Gavrilov D, Berry SA. High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota. JIMD Online Report.2009;10: Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM. Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia. J Inherit Metab Dis. 2008 Dec; 31 Suppl 2:S453-6 Epub 2008 Dec 16 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 Rinaldo P, Lim JS, Tortorelli S, Gavrilov D, Matern D. Newborn screening of metabolic disorders: recent progress and future developments. Nestle Nutr Workshop Ser Pediatr Program. 2008; 62:81-93; discussion 93-6. 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 Salomons GS, Jakobs C, Pope LL, Errami A, Potter M, Nowaczyk M, Olpin S, Manning N, Raiman JA, Slade T, Champion MP, Peck D, Gavrilov D, Hillman R, Hoganson GE, Donaldson K, Shield JP, Ketteridge D, Wasserstein M, Gibson KM. Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency. J Inherit Metab Dis. 2007 Feb; 30 (1):23-8 Epub 2006 Dec 20 View PubMed Gavrilov D, Kenzior O, Evans M, Calaluce R, Folk WR. Expression of urokinase plasminogen activator and receptor in conjunction with the ets family and AP-1 complex transcription factors in high grade prostate cancers. Eur J Cancer. 2001 May; 37(8):1033-40. View PubMed Gavrilov D, Kenzior O, Callaluce R, Evans M, Folk W. Control of uPA/uPAR expression and MAPK pathways in prostate cells. Prostate. 1999; 38:319. Gavrilov DK, Shi X, Das K, Gilliam TC, Wang CH. Differential SMN2 expression associated with SMA severity. Nat Genet 1998 Nov; 20 (3):230-1 View PubMed Gavrilov DK, Kuraeva TL, Dedov II, Sergeev AS, Nosikov VV. Frequency analysis of HLA-DQA1 and HLA-DQB1 gene alleles and susceptibility to type 1 diabetes mellitus in Russian patients. Acta Diabetol. 1994 Jun; 31(2):82-6. View PubMed Savov A, Jordanova A, Gavrilov D, Angelicheva D, Kalaydjieva L. G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient. Hum Mol Genet. 1994 Mar; 3(3):513-4. View PubMed Kuraeva T, Lebedev N, Gavrilov D, Nossikov V, Sergeeyev A, Dedov I. HLA-DQA1 and DQB1 gene polymorphism in type 1 diabetic patients in Central Russia. Diabetologia. 1994; 37(Supl 1):A84 No324. Chistiakov DA, Gavrilov DK, Ovchinnikov IV, Nosikov VV. Analysis of the distribution of alleles of four hypervariable tandem repeats among unrelated Russian individuals living in Moscow, using the polymerase chain reaction. Mol Biol (Mosk) (Russian). 1993 Nov-Dec; 27: (6)1304-14. Nosikov VV, Gavrilov DK, Kuraeva TL, Ovchinnikov IV, Dedov II. Study on the frequencies of alleles of HLA DQA1 and DQB1 genes in a group of insulin dependent diabetes mellitus patients in the Russian population of Moscow. Cell Prolif. 1992; 5(5):519. Gavrilov DK, Kuraeva TL, Dedov II, Nosikov VV. Comparative study on the frequencies of allele combinations of human MHC HLA DQA1 and DQB1 genes in a group of IDDM patients and in a control group in Russian population of Moscow. Biotekhnologiya (Russian). 1992; 6: 19-23. Nosikov VV, Ovchinnikov IV, Gavrilov DK, Chelnokova MV. The use of synthetic oligonucleotide primers for amplification of a variable number of tandem repeats loci for paternity testing. Nucleic Acids Symp Ser. 1991; (24):219. View PubMed Gavrilov DK, Ovchinnikov IV, Chelnokova MV, Nosikov VV. The uses of synthetic oligonucleotide primers for prenatal diagnosis of sex in chorionic villa via the polymerase chain reaction. Nucleic Acids Symp Ser. 1991; (24):257. View PubMed Gavrilov DK, Ovchinnikov IV, Nosikov VV. The use of PCR technique and sequence specific oligonucleotides for HLA-DQA1 and DQB1 gene typing in a group of insulin-dependent diabetes mellitus patients in the Russian population of Moscow. Nucleic Acids Symp Ser. 1991; (24):258. View PubMed Ovchinnikov IV, Gavrilov DK, Nosikov VV, Debabov VG. The use of polymerase chain reaction for HLA DQA1 typing with allele specific oligonucleotideprobes. Molekulyarnaya Biologiya (Russian). 1991; 25: (5)992-7. Gavrilov DK, Ovchinnikov IV, Vassilev VB, Nosikov VV. The use of polymerase chain reaction for amplification of DNA from paraffin embedded tissues in patients with hepatitis B virus infection. Pathol Res Pract. 1991; 187(6):692-3. PST-20224314 الصفحة الرئيسية المنشورات