• 2271 Citations
  • 24 Scopus h-Index
20022020

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2020

A comparative effectiveness study of newborn screening methods for four lysosomal storage disorders

Sanders, K. A., Gavrilov, D. K., Oglesbee, D., Raymond, K. M., Tortorelli, S., Hopwood, J. J., Lorey, F., Majumdar, R., Kroll, C. A., McDonald, A. M., Lacey, J. M., Turgeon, C. T., Tucker, J. N., Tang, H., Currier, R., Isaya, G., Rinaldo, P. & Matern, D., Jun 2020, In : International Journal of Neonatal Screening. 6, 2, 44.

Research output: Contribution to journalArticle

Open Access

Characterising a healthy adult with a rare hao1 knockout to support a therapeutic strategy for primary hyperoxaluria

McGregor, T. L., Hunt, K. A., Yee, E., Mason, D., Nioi, P., Ticau, S., Pelosi, M., Loken, P. R., Finer, S., Lawlor, D. A., Fauman, E. B., Huang, Q. Q., Griffiths, C. J., Macarthur, D. G., Trembath, R. C., Oglesbee, D., Lieske, J. C., Erbe, D. V., Wright, J. & van Heel, D. A., Mar 2020, In : eLife. 9, e54363.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Undiagnosed Diseases Network, Apr 2 2020, In : American journal of human genetics. 106, 4, p. 570-583 14 p.

Research output: Contribution to journalArticle

Incorporation of second-tier biomarker testing improves the specificity of newborn screening for mucopolysaccharidosis type i

Peck, D. S., Lacey, J. M., White, A. L., Pino, G., Studinski, A. L., Fisher, R., Ahmad, A., Spencer, L., Viall, S., Shallow, N., Siemon, A., Hamm, J. A., Murray, B. K., Jones, K. L., Gavrilov, D., Oglesbee, D., Raymond, K., Matern, D., Rinaldo, P. & Tortorelli, S., 2020, In : International Journal of Neonatal Screening. 6, 1, 10.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Laboratory monitoring of patients with hereditary tyrosinemia type I

Schultz, M. J., Netzel, B. C., Singh, R. H., Pino, G. B., Gavrilov, D. K., Oglesbee, D., Raymond, K. M., Rinaldo, P., Tortorelli, S., Smith, W. E. & Matern, D., Aug 2020, In : Molecular genetics and metabolism. 130, 4, p. 247-254 8 p.

Research output: Contribution to journalArticle

Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

on behalf of the ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee, Mar 1 2020, In : Genetics in Medicine. 22, 3, p. 462-474 13 p.

Research output: Contribution to journalArticle

2 Scopus citations

m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity

Klein Gunnewiek, T. M., Van Hugte, E. J. H., Frega, M., Guardia, G. S., Foreman, K., Panneman, D., Mossink, B., Linda, K., Keller, J. M., Schubert, D., Cassiman, D., Rodenburg, R., Vidal Folch, N., Oglesbee, D., Perales-Clemente, E., Nelson, T. J., Morava, E., Nadif Kasri, N. & Kozicz, T., Apr 21 2020, In : Cell reports. 31, 3, 107538.

Research output: Contribution to journalArticle

Open Access

Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria

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., Feb 2020, In : Molecular genetics and metabolism. 129, 2, p. 106-110 5 p.

Research output: Contribution to journalArticle

2 Scopus citations

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)

on behalf of the ACMG Laboratory Quality Assurance and the Professional Practice and Guidelines Committees, Jun 1 2020, In : Genetics in Medicine. 22, 6, p. 983-985 3 p.

Research output: Contribution to journalArticle

Open Access

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

Gavrilov, D. K., Piazza, A. L., Pino, G., Turgeon, C., Matern, D., Oglesbee, D., Raymond, K., Tortorelli, S. & Rinaldo, P., Jun 2020, In : International Journal of Neonatal Screening. 6, 2, 33.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

Guenzel, A. J., Turgeon, C. T., Nickander, K. K., White, A. L., Peck, D. S., Pino, G. B., Studinski, A. L., Prasad, V. K., Kurtzberg, J., Escolar, M. L., Lasio, M. L. D., Pellegrino, J. E., Sakonju, A., Hickey, R. E., Shallow, N. M., Ream, M. A., Orsini, J. J., Gelb, M. H., Raymond, K., Gavrilov, D. K. & 4 others, Oglesbee, D., Rinaldo, P., Tortorelli, S. & Matern, D., Jun 1 2020, In : Genetics in Medicine. 22, 6, p. 1108-1118 11 p.

Research output: Contribution to journalArticle

5 Scopus citations
2019

A missense variant in FTCD is associated with arsenic metabolism and toxicity phenotypes in Bangladesh

Pierce, B. L., Tong, L., Dean, S., Argos, M., Jasmine, F., Rakibuz-Zaman, M., Sarwar, G., Islam, T., Shahriar, H., Islam, T., Rahman, M., Yunus, M. D., Lynch, V. J., Oglesbee, D., Graziano, J. H., Kibriya, M. G., Gamble, M. V. & Ahsan, H., Mar 2019, In : PLoS genetics. 15, 3, e1007984.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease

Oliver, G. R., Tang, X., Schultz-Rogers, L. E., Vidal-Folch, N., Garrett Jenkinson, W., Schwab, T. L., Gaonkar, K., Cousin, M. A., Nair, A., Basu, S., Chanana, P., Oglesbee, D. & Klee, E. W., Oct 1 2019, In : PloS one. 14, 10, e0223337.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations
2 Scopus citations

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Undiagnosed Diseases Network, Aug 1 2019, In : American journal of human genetics. 105, 2, p. 413-424 12 p.

Research output: Contribution to journalArticle

3 Scopus citations

Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Undiagnosed Diseases Network, Jun 6 2019, In : American journal of human genetics. 104, 6, p. 1127-1138 12 p.

Research output: Contribution to journalArticle

6 Scopus citations

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Undiagnosed Diseases Network (UDN) & Members of the Undiagnosed Diseases Network, Nov 1 2019, In : Clinical Imaging. 58, p. 108-113 6 p.

Research output: Contribution to journalArticle

1 Scopus citations

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Undiagnosed Diseases Network, 2019, (Accepted/In press) In : Biological psychiatry.

Research output: Contribution to journalArticle

6 Scopus citations

VarSight: Prioritizing clinically reported variants with binary classification algorithms

Holt, J. M., Wilk, B., Birch, C. L., Brown, D. M., Gajapathy, M., Moss, A. C., Sosonkina, N., Wilk, M. A., Anderson, J. A., Harris, J. M., Kelly, J. M., Shaterferdosian, F., Uno-Antonison, A. E., Weborg, A., Acosta, M. T., Adam, M., Adams, D. R., Agrawal, P. B., Alejandro, M. E., Allard, P. & 259 others, Alvey, J., Amendola, L., Andrews, A., Ashley, E. A., Azamian, M. S., Bacino, C. A., Bademci, G., Baker, E., Balasubramanyam, A., Baldridge, D., Bale, J., Bamshad, M., Barbouth, D., Batzli, G. F., Bayrak-Toydemir, P., Beck, A., Beggs, A. H., Bejerano, G., Bellen, H. J., Bennet, J., Berg-Rood, B., Bernier, R., Bernstein, J. A., Berry, G. T., Bican, A., Bivona, S., Blue, E., Bohnsack, J., Bonnenmann, C., Bonner, D., Botto, L., Briere, L. C., Brokamp, E., Burke, E. A., Burrage, L. C., Butte, M. J., Byers, P., Carey, J., Carrasquillo, O., Chang, T. C. P., Chanprasert, S., Chao, H. T., Clark, G. D., Coakley, T. R., Cobban, L. A., Cogan, J. D., Cole, F. S., Colley, H. A., Cooper, C. M., Cope, H., Craigen, W. J., Cunningham, M., D'Souza, P., Dai, H., Dasari, S., Davids, M., Dayal, J. G., Dell'Angelica, E. C., Dhar, S. U., Dipple, K., Doherty, D., Dorrani, N., Douine, E. D., Draper, D. D., Duncan, L., Earl, D., Eckstein, D. J., Emrick, L. T., Eng, C. M., Esteves, C., Estwick, T., Fernandez, L., Ferreira, C., Fieg, E. L., Fisher, P. G., Fogel, B. L., Forghani, I., Fresard, L., Gahl, W. A., Glass, I., Godfrey, R. A., Golden-Grant, K., Goldman, A. M., Goldstein, D. B., Grajewski, A., Groden, C. A., Gropman, A. L., Hahn, S., Hamid, R., Hanchard, N. A., Hayes, N., High, F., Hing, A., Hisama, F. M., Holm, I. A., Hom, J., Horike-Pyne, M., Huang, A., Huang, Y., Isasi, R., Jamal, F., Jarvik, G. P., Jarvik, J., Jayadev, S., Jiang, Y. H., Johnston, J. M., Karaviti, L., Kelley, E. G., Kiley, D., Kohane, I. S., Kohler, J. N., Krakow, D., Krasnewich, D. M., Korrick, S., Koziura, M., Krier, J. B., Lalani, S. R., Lam, B., Lam, C., Lanpher, B. C., Lanza, I. R., Lau, C. C., Leblanc, K., Lee, B. H., Lee, H., Levitt, R., Lewis, R. A., Lincoln, S. A., Liu, P., Liu, X. Z., Longo, N., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Majcherska, M. M., Malicdan, M. C. V., Mamounas, L. A., Manolio, T. A., Mao, R., Maravilla, K., Markello, T. C., Marom, R., Marth, G., Martin, B. A., Martin, M. G., Martínez-Agosto, J. A., Marwaha, S., McCauley, J., McConkie-Rosell, A., McCormack, C. E., McCray, A. T., Mefford, H., Merritt, J. L., Might, M., Mirzaa, G., Morava-Kozicz, E., Moretti, P. M., Morimoto, M., Mulvihill, J. J., Murdock, D. R., Nath, A., Nelson, S. F., Newman, J. H., Nicholas, S. K., Nickerson, D., Novacic, D., Oglesbee, D., Orengo, J. P., Pace, L., Pak, S., Pallais, J. C., Palmer, C. G. S., Papp, J. C., Parker, N. H., Phillips, J. A., Posey, J. E., Postlethwait, J. H., Potocki, L., Pusey, B. N., Quinlan, A., Raskind, W., Raja, A. N., Renteria, G., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Rowley, R. K., Ruzhnikov, M., Sacco, R., Sampson, J. B., Samson, S. L., Saporta, M., Scott, C. R., Schaechter, J., Schedl, T., Schoch, K., Scott, D. A., Shakachite, L., Sharma, P., Shashi, V., Shin, J., Signer, R., Sillari, C. H., Silverman, E. K., Sinsheimer, J. S., Sisco, K., Smith, K. S., Solnica-Krezel, L., Spillmann, R. C., Stoler, J. M., Stong, N., Sullivan, J. A., Sun, A., Sutton, S., Sweetser, D. A., Sybert, V., Tabor, H. K., Tamburro, C. P., Tan, Q. K. G., Tekin, M., Telischi, F., Thorson, W., Tifft, C. J., Toro, C., Tran, A. A., Urv, T. K., Velinder, M., Viskochil, D., Vogel, T. P., Wahl, C. E., Wallace, S., Walley, N. M., Walsh, C. A., Walker, M., Wambach, J., Wan, J., Wang, L. K., Wangler, M. F., Ward, P. A., Wegner, D., Wener, M., Westerfield, M., Wheeler, M. T., Wise, A. L., Wolfe, L. A., Woods, J. D., Yamamoto, S., Yang, J., Yoon, A. J., Yu, G., Zastrow, D. B., Zhao, C., Zuchner, S. & Worthey, E. A., Oct 15 2019, In : BMC bioinformatics. 20, 1, 496.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations
2018

CAP/ACMG proficiency testing for biochemical genetics laboratories: A summary of performance

College of American Pathologists and American College of Medical Genetics, Jan 1 2018, In : Genetics in Medicine. 20, 1, p. 83-90 8 p.

Research output: Contribution to journalArticle

4 Scopus citations

Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease

Tortorelli, S., Eckerman, J. S., Orsini, J. J., Stevens, C., Hart, J., Hall, P. L., Alexander, J. J., Gavrilov, D., Oglesbee, D., Raymond, K., Matern, D. & Rinaldo, P., Aug 1 2018, In : Genetics in Medicine. 20, 8, p. 840-846 7 p.

Research output: Contribution to journalArticle

11 Scopus citations

Multiplex droplet digital PCR method applicable to newborn screening, carrier status, and assessment of spinal muscular atrophy

Vidal-Folch, N., Gavrilov, D., Raymond, K., Rinaldo, P., Tortorelli, S., Matern, D. & Oglesbee, D., Dec 2018, In : Clinical chemistry. 64, 12, p. 1753-1761 9 p.

Research output: Contribution to journalArticle

10 Scopus citations

Precision newborn screening for lysosomal disorders

Minter Baerg, M. M., Stoway, S. D., Hart, J., Mott, L., Peck, D. S., Nett, S. L., Eckerman, J. S., Lacey, J. M., Turgeon, C. T., Gavrilov, D., Oglesbee, D., Raymond, K., Tortorelli, S., Matern, D., Mørkrid, L. & Rinaldo, P., Aug 1 2018, In : Genetics in Medicine. 20, 8, p. 847-854 8 p.

Research output: Contribution to journalArticle

36 Scopus citations
2017

A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening

Vidal-Folch, N., Milosevic, D., Majumdar, R., Gavrilov, D., Matern, D., Raymond, K., Rinaldo, P., Tortorelli, S., Abraham, R. S. & Oglesbee, D., Sep 2017, In : Journal of Molecular Diagnostics. 19, 5, p. 755-765 11 p.

Research output: Contribution to journalArticle

9 Scopus citations

Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria

Majumdar, R., Yori, A., Rush, P. W., Raymond, K., Gavrilov, D., Tortorelli, S., Matern, D., Rinaldo, P., Feldman, G. L. & Oglesbee, D., 2017, In : Molecular Genetics and Genomic Medicine. 5, 6, p. 795-799 5 p.

Research output: Contribution to journalArticle

3 Scopus citations

Composition of single-step media used for human embryo culture

Morbeck, D. E., Baumann, N. A. & Oglesbee, D., Apr 1 2017, In : Fertility and Sterility. 107, 4, p. 1055-1060.e1

Research output: Contribution to journalArticle

25 Scopus citations

Mitochondrial DNA sequence data reveals association of haplogroup U with psychosis in bipolar disorder

Frye, M. A., Ryu, E., Nassan, M., Jenkins, G. D., Andreazza, A. C., Evans, J. M., McElroy, S. L., Oglesbee, D., Highsmith, W. E. J. & Biernacka, J. M., Jan 1 2017, In : Journal of Psychiatric Research. 84, p. 221-226 6 p.

Research output: Contribution to journalArticle

4 Scopus citations
2016

Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability

Perales-Clemente, E., Cook, A. N., Evans, J. M., Roellinger, S., Secreto, F., Emmanuele, V., Oglesbee, D., Mootha, V. K., Hirano, M., Schon, E. A., Terzic, A. & Nelson, T. J., Sep 15 2016, In : EMBO Journal. 35, 18, p. 1979-1990 12 p.

Research output: Contribution to journalArticle

25 Scopus citations

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience

Lazaridis, K. N., Schahl, K. A., Cousin, M. A., Babovic-Vuksanovic, D., Riegert-Johnson, D. L., Gavrilova, R. H., McAllister, T. M., Lindor, N. M., Abraham, R. S., Ackerman, M. J., Pichurin, P. N., Deyle, D. R., Gavrilov, D. K., Hand, J. L., Klee, E. W., Stephens, M. C., Wick, M. J., Atkinson, E. J., Linden, D. R., Ferber, M. J. & 19 others, Wieben, E. D., Farrugia, G., Baudhuin, L. M., Beck, S. A., Beek, G. J., Go, R. S., Guthrie, K. J., Hovan, M. J., Hunt, K. S., Kemppainen, J. L., Kruisselbrink, T. M., McCormick, J. B., McLaughlin, B. M., Murphree, M. I., Niewold, T. B., Oglesbee, D., Reed, A., Thibodeau, S. N. & Thorland, E. C., Mar 1 2016, In : Mayo Clinic Proceedings. 91, 3, p. 297-307 11 p.

Research output: Contribution to journalArticle

59 Scopus citations

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening

Wong, D., Tortorelli, S., Bishop, L., Sellars, E. A., Schimmenti, L. A., Gallant, N., Prada, C. E., Hopkin, R. J., Leslie, N. D., Berry, S. A., Rosenblatt, D. S., Fair, A. L., Matern, D., Raymond, K., Oglesbee, D., Rinaldo, P. & Gavrilov, D., Feb 1 2016, In : Genetics in Medicine. 18, 2, p. 162-167 6 p.

Research output: Contribution to journalArticle

11 Scopus citations

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma

Blackburn, P. R., Hickey, R. D., Nace, R. A., Giama, N. H., Kraft, D. L., Bordner, A. J., Chaiteerakij, R., McCormick, J. B., Radulovic, M., Graham, R. P., Torbenson, M. S., Tortorelli, S., Scott, C. R., Lindor, N. M., Milliner, D. S., Oglesbee, D., Al-Qabandi, W., Grompe, M., Gavrilov, D. K., El-Youssef, M. & 5 others, Clark, K. J., Atwal, P. S., Roberts, L. R., Klee, E. W. & Ekker, S. C., Oct 1 2016, In : Human mutation. 37, 10, p. 1097-1105 9 p.

Research output: Contribution to journalArticle

11 Scopus citations

Simultaneous testing for 6 lysosomal storage disorders and x-adrenoleukodystrophy in dried blood spots by tandem mass spectrometry

Tortorelli, S., Turgeon, C. T., Gavrilov, D. K., Oglesbee, D., Raymond, K. M., Rinaldo, P. & Matern, D., Sep 2016, In : Clinical chemistry. 62, 9, p. 1248-1254 7 p.

Research output: Contribution to journalArticle

20 Scopus citations
2015

Confirming variants in next-generation sequencing panel testing by sanger sequencing

Baudhuin, L. M., Lagerstedt, S. A., Klee, E. W., Fadra, N., Oglesbee, D. & Ferber, M. J., Jul 1 2015, In : Journal of Molecular Diagnostics. 17, 4, p. 456-461 6 p.

Research output: Contribution to journalArticle

57 Scopus citations

Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease

Turgeon, C. T., Orsini, J. J., Sanders, K. A., Magera, M. J., Langan, T. J., Escolar, M. L., Duffner, P., Oglesbee, D., Gavrilov, D., Tortorelli, S., Rinaldo, P., Raymond, K. & Matern, D., Oct 1 2015, In : Journal of Inherited Metabolic Disease. 38, 5, p. 923-929 7 p.

Research output: Contribution to journalArticle

42 Scopus citations

Newborn screening for lysosomal storage disorders

Matern, D., Gavrilov, D., Oglesbee, D., Raymond, K., Rinaldo, P. & Tortorelli, S., Apr 1 2015, In : Seminars in Perinatology. 39, 3, p. 206-216 11 p.

Research output: Contribution to journalArticle

61 Scopus citations

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy

Turgeon, C. T., Moser, A. B., Mørkrid, L., Magera, M. J., Gavrilov, D. K., Oglesbee, D., Raymond, K., Rinaldo, P., Matern, D. & Tortorelli, S., Jan 1 2015, In : Molecular Genetics and Metabolism. 114, 1, p. 46-50 5 p.

Research output: Contribution to journalArticle

34 Scopus citations
2014

Usefulness of frataxin immunoassays for the diagnosis of Friedreich ataxia

Deutsch, E. C., Oglesbee, D., Greeley, N. R. & Lynch, D. R., Sep 2014, In : Journal of Neurology, Neurosurgery and Psychiatry. 85, 9, p. 994-1002 9 p.

Research output: Contribution to journalArticle

7 Scopus citations
2013

Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome

Hall, P., Michels, V., Gavrilov, D., Matern, D., Oglesbee, D., Raymond, K., Rinaldo, P. & Tortorelli, S., Sep 1 2013, In : Molecular Genetics and Metabolism. 110, 1-2, p. 176-178 3 p.

Research output: Contribution to journalArticle

18 Scopus citations

Disease-causing mitochondrial Heteroplasmy segregated within induced pluripotent stem cell clones derived from a patient with MELAS

Folmes, C. D. L., Martinez-Fernandez, A., Perales-Clemente, E., Li, X., McDonald, A., Oglesbee, D., Hrstka, S. C., Perez-Terzic, C., Terzic, A. & Nelson, T. J., Jul 2013, In : Stem Cells. 31, 7, p. 1298-1308 11 p.

Research output: Contribution to journalArticle

76 Scopus citations

High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood.

Oglesbee, D., Kroll, C., Gakh, O., Deutsch, E. C., Lynch, D. R., Gavrilova, R., Tortorelli, S., Raymond, K., Gavrilov, D., Rinaldo, P., Matern, D. & Isaya, G., Oct 2013, In : Clinical chemistry. 59, 10, p. 1461-1469 9 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Newborn screening for lysosomal storage disorders and other neuronopathic conditions

Matern, D., Oglesbee, D. & Tortorelli, S., Jun 2013, In : Developmental Disabilities Research Reviews. 17, 3, p. 247-253 7 p.

Research output: Contribution to journalArticle

31 Scopus citations
2012

Design and analytical validation of clinical DNA sequencing assays

Pont-Kingdon, G., Gedge, F., Wooderchak-Donahue, W., Schrijver, I., Weck, K. E., Kant, J. A., Oglesbee, D., Bayrak-Toydemir, P. & Lyon, E., Jan 1 2012, In : Archives of Pathology and Laboratory Medicine. 136, 1, p. 41-46 6 p.

Research output: Contribution to journalArticle

29 Scopus citations

Enhanced interpretation of newborn screening results without analyte cutoff values

Marquardt, G., Currier, R., McHugh, D. M. S., Gavrilov, D., Magera, M. J., Matern, D., Oglesbee, D., Raymond, K., Rinaldo, P., Smith, E. H., Tortorelli, S., Turgeon, C. T., Lorey, F., Wilcken, B., Wiley, V., Greed, L. C., Lewis, B., Boemer, F., Schoos, R., Marie, S. & 107 others, Vincent, M. F., Sica, Y. C., Domingos, M. T., Al-Thihli, K., Sinclair, G., Al-Dirbashi, O. Y., Chakraborty, P., Dymerski, M., Porter, C., Manning, A., Seashore, M. R., Quesada, J., Reuben, A., Chrastina, P., Hornik, P., Atef Mandour, I., Atty Sharaf, S. A., Bodamer, O., Dy, B., Torres, J., Zori, R., Cheillan, D., Vianey-Saban, C., Ludvigson, D., Stembridge, A., Bonham, J., Downing, M., Dotsikas, Y., Loukas, Y. L., Papakonstantinou, V., Zacharioudakis, G. S. A., Baráth, K., Karg, E., Franzson, L., Jonsson, J. J., Breen, N. N., Lesko, B. G., Berberich, S. L., Turner, K., Ruoppolo, M., Scolamiero, E., Antonozzi, I., Carducci, C., Caruso, U., Cassanello, M., La Marca, G., Pasquini, E., Di Gangi, I. M., Giordano, G., Camilot, M., Teofoli, F., Manos, S. M., Peterson, C. K., Mayfield Gibson, S. K., Sevier, D. W., Lee, S. Y., Park, H. D., Khneisser, I., Browning, P., Gulamali-Majid, F., Watson, M. S., Eaton, R. B., Sahai, I., Ruiz, C., Torres, R., Seeterlin, M. A., Stanley, E. L., Hietala, A., McCann, M., Campbell, C., Hopkins, P. V., De Sain-Van Der Velden, M. G., Elvers, B., Morrissey, M. A., Sunny, S., Knoll, D., Webster, D., Frazier, D. M., McClure, J. D., Sesser, D. E., Willis, S. A., Rocha, H., Vilarinho, L., John, C., Lim, J., Caldwell, S. G., Tomashitis, K., Castĩeiras Ramos, D. E., Cocho De Juan, J. A., Rueda Fernández, I., Yahyaoui MacÍas, R., Egea-Mellado, J. M., González-Gallego, I., Delgado Pecellin, C., García-Valdecasas Bermejo, M. S., Chien, Y. H., Hwu, W. L., Childs, T., McKeever, C. D., Tanyalcin, T., Abdulrahman, M., Queijo, C., Lemes, A., Davis, T., Hoffman, W., Mei, B. & Hoffman, G. L., Jul 2012, In : Genetics in Medicine. 14, 7, p. 648-655 8 p.

Research output: Contribution to journalArticle

77 Scopus citations
2011

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

McHugh, D. M. S., Cameron, C. A., Abdenur, J. E., Abdulrahman, M., Adair, O., Al Nuaimi, S. A., Åhlman, H., Allen, J. J., Antonozzi, I., Archer, S., Au, S., Auray-Blais, C., Baker, M., Bamforth, F., Beckmann, K., Pino, G. B., Berberich, S. L., Binard, R., Boemer, F., Bonham, J. & 226 others, Breen, N. N., Bryant, S. C., Caggana, M., Caldwell, S. G., Camilot, M., Campbell, C., Carducci, C., Cariappa, R., Carlisle, C., Caruso, U., Cassanello, M., Castilla, A. M., Ramos, D. E. C., Chakraborty, P., Chandrasekar, R., Ramos, A. C., Cheillan, D., Chien, Y. H., Childs, T. A., Chrastina, P., Sica, Y. C., Cocho De Juan, J. A., Colandre, M. E., Espinoza, V. C., Corso, G., Currier, R., Cyr, D., Czuczy, N., D'Apolito, O., Davis, T., De Sain-Van Der Velden, M. G., Pecellin, C. D., Di Gangi, I. M., Di Stefano, C. M., Dotsikas, Y., Downing, M., Downs, S. M., Dy, B., Dymerski, M., Rueda, I., Elvers, B., Eaton, R., Eckerd, B. M., El Mougy, F., Eroh, S., Espada, M., Evans, C., Fawbush, S., Fijolek, K. F., Fisher, L., Franzson, L., Frazier, D. M., Garcia, L. R. C., Bermejo, M. S. G. V., Gavrilov, D., Gerace, R., Giordano, G., Irazabal, Y. G., Greed, L. C., Grier, R., Grycki, E., Gu, X., Gulamali-Majid, F., Hagar, A. F., Han, L., Hannon, W. H., Haslip, C., Hassan, F. A., He, M., Hietala, A., Himstedt, L., Hoffman, G. L., Hoffman, W., Hoggatt, P., Hopkins, P. V., Hougaard, D. M., Hughes, K., Hunt, P. R., Hwu, W. L., Hynes, J., Ibarra-González, I., Ingham, C. A., Ivanova, M., Jacox, W. B., John, C., Johnson, J. P., Jónsson, J. J., Karg, E., Kasper, D., Klopper, B., Katakouzinos, D., Khneisser, I., Knoll, D., Kobayashi, H., Koneski, R., Kožich, V., Kouapei, R., Kohlmueller, D., Kremensky, I., La Marca, G., Lavochkin, M., Lee, S. Y., Lehotay, D. C., Lemes, A., Lepage, J., Lesko, B., Lewis, B., Lim, C., Linard, S., Lindner, M., Lloyd-Puryear, M. A., Lorey, F., Loukas, Y. L., Luedtke, J., Maffitt, N., Magee, J. F., Manning, A., Manos, S., Marie, S., Hadachi, S. M., Marquardt, G., Martin, S. J., Matern, D., Gibson, S. K. M., Mayne, P., McCallister, T. D., McCann, M., McClure, J., McGill, J. J., McKeever, C. D., McNeilly, B., Morrissey, M. A., Moutsatsou, P., Mulcahy, E. A., Nikoloudis, D., Norgaard-Pedersen, B., Oglesbee, D., Oltarzewski, M., Ombrone, D., Ojodu, J., Papakonstantinou, V., Reoyo, S. P., Park, H. D., Pasquali, M., Pasquini, E., Patel, P., Pass, K. A., Peterson, C., Pettersen, R. D., Pitt, J. J., Poh, S., Pollak, A., Porter, C., Poston, P. A., Price, R. W., Queijo, C., Quesada, J., Randell, E., Ranieri, E., Raymond, K., Reddic, J. E., Reuben, A., Ricciardi, C., Rinaldo, P., Rivera, J. D., Roberts, A., Rocha, H., Roche, G., Greenberg, C. R., Mellado, J. M. E., Juan-Fita, M. J., Ruiz, C., Ruoppolo, M., Rutledge, S. L., Ryu, E., Saban, C., Sahai, I., García-Blanco, M. I. S., Santiago-Borrero, P., Schenone, A., Schoos, R., Schweitzer, B., Scott, P., Seashore, M. R., Seeterlin, M. A., Sesser, D. E., Sevier, D. W., Shone, S. M., Sinclair, G., Skrinska, V. A., Stanley, E. L., Strovel, E. T., Jones, A. L. S., Sunny, S., Takats, Z., Tanyalcin, T., Teofoli, F., Thompson, J. R., Tomashitis, K., Domingos, M. T., Torres, J., Torres, R., Tortorelli, S., Turi, S., Turner, K., Tzanakos, N., Valiente, A. G., Vallance, H., Vela-Amieva, M., Vilarinho, L., Von Döbeln, U., Vincent, M. F., Vorster, B. C., Watson, M. S., Webster, D., Weiss, S., Wilcken, B., Wiley, V., Williams, S. K., Willis, S. A., Woontner, M., Wright, K., Yahyaoui, R., Yamaguchi, S., Yssel, M. & Zakowicz, W. M., Mar 2011, In : Genetics in Medicine. 13, 3, p. 230-254 25 p.

Research output: Contribution to journalArticle

201 Scopus citations

Unexpected fabry disease in a renal allograft kidney: An underrecognized cause of poor allograft function

Kochar, O., Wick, M. R., Kerr, S. E., Oglesbee, D. & Cathro, H. P., Apr 1 2011, In : Ultrastructural Pathology. 35, 2, p. 92-96 5 p.

Research output: Contribution to journalArticle

7 Scopus citations
2010

Allelic diversity in MCAD deficiency: The biochemical classification of 54 variants identified during 5 years of ACADM sequencing

Smith, E. H., Thomas, C., McHugh, D., Gavrilov, D., Raymond, K., Rinaldo, P., Tortorelli, S., Matern, D., Highsmith, W. E. & Oglesbee, D., Jul 1 2010, In : Molecular genetics and metabolism. 100, 3, p. 241-250 10 p.

Research output: Contribution to journalArticle

30 Scopus citations

An adult onset case of alpha-methyl-Acyl-CoA racemase deficiency

Smith, E. H., Gavrilov, D. K., Oglesbee, D., Freeman, W. D., Vavra, M. W., Matern, D. & Tortorelli, S., Dec 2010, In : Journal of inherited metabolic disease. 33, SUPPL. 3, p. S349-S353

Research output: Contribution to journalArticle

16 Scopus citations

Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry

Turgeon, C. T., Magera, M. J., Cuthbert, C. D., Loken, P. R., Gavrilov, D. K., Tortorelli, S., Raymond, K. M., Oglesbee, D., Rinaldo, P. & Matern, D., Nov 1 2010, In : Clinical chemistry. 56, 11, p. 1686-1695 10 p.

Research output: Contribution to journalArticle

77 Scopus citations

Homogentisic acid interference in routine urine creatinine determination

Loken, P. R., Magera, M. J., Introne, W., Tortorelli, S., Gavrilov, D., Oglesbee, D., Rinaldo, P., Matern, D. & Raymond, K., May 1 2010, In : Molecular Genetics and Metabolism. 100, 1, p. 103-104 2 p.

Research output: Contribution to journalArticle

11 Scopus citations

Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry

Tortorelli, S., Turgeon, C. T., Lim, J. S., Baumgart, S., Day-Salvatore, D. L., Abdenur, J., Bernstein, J. A., Lorey, F., Lichter-Konecki, U., Oglesbee, D., Raymond, K., Matern, D., Schimmenti, L., Rinaldo, P. & Gavrilov, D. K., Apr 13 2010, In : Journal of Pediatrics. 157, 2, p. 271-275 5 p.

Research output: Contribution to journalArticle

28 Scopus citations