1. Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program.

    Clinical Biochemistry 46(7-8):681 (2013) PMID 23462696

    The objective of this study is to develop an isotope dilution liquid chromatography tandem mass spectrometry assay to screen for hepatorenal tyrosinemia (HT) from newborn filter paper samples using pooled extracts to increase high throughput screening. Succinylacetone (SUAC), the marker for HT, ...
  2. Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: A four-year summary by the New England newborn screening program

    Clinical Biochemistry 46(7-8):681 (2013)

    Objective The objective of this study is to develop an isotope dilution liquid chromatography tandem mass spectrometry assay to screen for hepatorenal tyrosinemia (HT) from newborn filter paper samples using pooled extracts to increase high throughput screening.
  3. Enhanced interpretation of newborn screening results without analyte cutoff values.
    Gregg Marquardt, Robert Currier, David S McHugh, Dimitar Gavrilov, Mark J Magera, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Emily H Smith, Silvia Tortorelli, Coleman Turgeon, Fred Lorey, Bridget Wilcken, Veronica Wiley, Lawrence C Greed, Barry Lewis, François Boemer, Roland Schoos, Sandrine Marie, Marie-Françoise Vincent, Yuri Cleverthon Sica, Mouseline Torquado Domingos, Khalid Al-Thihli, Graham Sinclair, Osama Y Al-Dirbashi, Pranesh Chakraborty, Mark Dymerski, Cory Porter, Adrienne Manning, Margretta R Seashore, Jonessy Quesada, Alejandra Reuben, Petr Chrastina, Petr Hornik, Iman Atef Mandour, Sahar Abdel Atty Sharaf, Olaf Bodamer, Bonifacio Dy, Jasmin Torres, Roberto Zori, David Cheillan, Christine Vianey-Saban, David Ludvigson, Adrya Stembridge, Jim Bonham, Melanie Downing, Yannis Dotsikas, Yannis Loukas, Vagelis Papakonstantinou, Georgios S A Zacharioudakis, Ákos Baráth, Eszter Karg, Leifur Franzson, Jon Jonsson, Nancy Breen, Barbara G Lesko, Stanton L Berberich, Kimberley Turner, Margherita Ruoppolo, Emanuela Scolamiero, Italo Antonozzi, Claudia Carducci, Ubaldo Caruso, Michela Cassanello, Giancarlo la Marca, Elisabetta Pasquini, Iole Maria Di Gangi, Giuseppe Giordano, Marta Camilot, Francesca Teofoli, Shawn Manos, Colleen K Peterson, Stephanie K Mayfield Gibson, Darrin W Sevier, Soo-Youn Lee, Hyung-Doo Park, Issam Khneisser, Phaidra Browning, Fizza Gulamali-Majid, Michael S Watson, Roger B Eaton, Inderneel Sahai, Consuelo Ruiz, Rosario Torres, Mary A Seeterlin, Eleanor L Stanley, Amy Hietala, Mark McCann, Carlene Campbell, Patrick V Hopkins, Monique G de Sain-Van der Velden, Bert Elvers, Mark A Morrissey, Sherlykutty Sunny, Detlef Knoll, Dianne Webster, Dianne M Frazier, Julie D McClure, David E Sesser, Sharon A Willis, Hugo Rocha, Laura Vilarinho, Catharine John, James Lim, S Graham Caldwell, Kathy Tomashitis, Daisy E Castiñeiras Ramos, Jose Angel Cocho de Juan, Inmaculada Rueda Fernández, Raquel Yahyaoui Macías, José María Egea-Mellado, Inmaculada, Carmen Delgado Pecellin, Maria Sierra García-Valdecasas Bermejo, Yin-Hsiu Chien, Wuh-Liang Hwu, Thomas Childs, Christine D McKeever, Tijen Tanyalcin, Mahera Abdulrahman, Cecilia Queijo, Aída Lemes, Tim Davis, William Hoffman, Mei Baker, and Gary L Hoffman

    Genetics in Medicine 14(7):648 (2012) PMID 22766634

    To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries. A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recognition softwar...
  4. Enhanced interpretation of newborn screening results without analyte cutoff values.
    Gregg Marquardt, Robert Currier, David S McHugh, Dimitar Gavrilov, Mark J Magera, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Emily H Smith, Silvia Tortorelli, Coleman Turgeon, Fred Lorey, Bridget Wilcken, Veronica Wiley, Lawrence C Greed, Barry Lewis, François Boemer, Roland Schoos, Sandrine Marie, Marie-Françoise Vincent, Yuri Cleverthon Sica, Mouseline Torquado Domingos, Khalid Al-Thihli, Graham Sinclair, Osama Y Al-Dirbashi, Pranesh Chakraborty, Mark Dymerski, Cory Porter, Adrienne Manning, Margretta R Seashore, Jonessy Quesada, Alejandra Reuben, Petr Chrastina, Petr Hornik, Iman Atef Mandour, Sahar Abdel Atty Sharaf, Olaf Bodamer, Bonifacio Dy, Jasmin Torres, Roberto Zori, David Cheillan, Christine Vianey-Saban, David Ludvigson, Adrya Stembridge, Jim Bonham, Melanie Downing, Yannis Dotsikas, Yannis Loukas, Vagelis Papakonstantinou, Georgios S A Zacharioudakis, Ákos Baráth, Eszter Karg, Leifur Franzson, Jon Jonsson, Nancy Breen, Barbara G Lesko, Stanton L Berberich, Kimberley Turner, Margherita Ruoppolo, Emanuela Scolamiero, Italo Antonozzi, Claudia Carducci, Ubaldo Caruso, Michela Cassanello, Giancarlo la Marca, Elisabetta Pasquini, Iole Maria Di Gangi, Giuseppe Giordano, Marta Camilot, Francesca Teofoli, Shawn Manos, Colleen K Peterson, Stephanie K Mayfield Gibson, Darrin W Sevier, Soo-Youn Lee, Hyung-Doo Park, Issam Khneisser, Phaidra Browning, Fizza Gulamali-Majid, Michael S Watson, Roger B Eaton, Inderneel Sahai, Consuelo Ruiz, Rosario Torres, Mary A Seeterlin, Eleanor L Stanley, Amy Hietala, Mark McCann, Carlene Campbell, Patrick V Hopkins, Monique G de Sain-Van der Velden, Bert Elvers, Mark A Morrissey, Sherlykutty Sunny, Detlef Knoll, Dianne Webster, Dianne M Frazier, Julie D McClure, David E Sesser, Sharon A Willis, Hugo Rocha, Laura Vilarinho, Catharine John, James Lim, S Graham Caldwell, Kathy Tomashitis, Daisy E Castiñeiras Ramos, Jose Angel Cocho de Juan, Inmaculada Rueda Fernández, Raquel Yahyaoui Macías, José María Egea-Mellado, Inmaculada, Carmen Delgado Pecellin, Maria Sierra García-Valdecasas Bermejo, Yin-Hsiu Chien, Wuh-Liang Hwu, Thomas Childs, Christine D McKeever, Tijen Tanyalcin, Mahera Abdulrahman, Cecilia Queijo, Aída Lemes, Tim Davis, William Hoffman, Mei Baker, and Gary L Hoffman

    Genetics in Medicine 14(7):648 (2012) PMID 22766634

    To improve quality of newborn screening by tandem mass spectrometry with a novel approach made possible by the collaboration of 154 laboratories in 49 countries. A database of 767,464 results from 12,721 cases affected with 60 conditions was used to build multivariate pattern recognition softwar...
  5. Neonatal screening for inborn errors of metabolism using tandem mass spectrometry: experience of the pilot study in Andhra Pradesh, India.

    Indian Journal of Pediatrics 78(8):953 (2011) PMID 21416125

    To estimate the prevalence of the Inborn Errors of Metabolism (IEM), evaluate biomarker distributions and determine benefits of screening for the inborn errors of metabolism in Andhra Pradesh, India, using Tandem Mass Spectrometry (MS/MS). The 4,946 newborns born during the period 2006-2008 in f...
  6. Neonatal screening for inborn errors of metabolism using tandem mass spectrometry: experience of the pilot study in Andhra Pradesh, India.

    Indian Journal of Pediatrics 78(8):953 (2011) PMID 21416125

    To estimate the prevalence of the Inborn Errors of Metabolism (IEM), evaluate biomarker distributions and determine benefits of screening for the inborn errors of metabolism in Andhra Pradesh, India, using Tandem Mass Spectrometry (MS/MS). The 4,946 newborns born during the period 2006-2008 in f...
  7. A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen.

    The Journal of Pediatrics 158(1):172; author reply 172 (2011) PMID 21074171

  8. A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen

    The Journal of Pediatrics 158(1):172 (2011)

  9. A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen.

    The Journal of Pediatrics 158(1):172; author reply 172 (2011) PMID 21074171

  10. Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England.

    Genetics in Medicine 12(12 Suppl):S220 (2010) PMID 21150368

    To fulfill the purpose of newborn screening, comprehensive newborn screening programs must ensure that infants and children with newborn screening conditions are not only diagnosed but also they maintain engagement in appropriate lifespan and family-centered care for best outcomes. To ensure suc...
  11. Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England.

    Genetics in Medicine 12(12 Suppl):S220 (2010) PMID 21150368

    To fulfill the purpose of newborn screening, comprehensive newborn screening programs must ensure that infants and children with newborn screening conditions are not only diagnosed but also they maintain engagement in appropriate lifespan and family-centered care for best outcomes. To ensure suc...
  12. Identification of an infant with severe combined immunodeficiency by newborn screening.

    Journal of Allergy and Clinical Immunology 126(5):1073 (2010) PMID 20933257

  13. Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency.

    Journal of Inherited Metabolic Disease 33(Suppl 2):S273 (2010) PMID 20490925

    Severe combined immunodeficiency (SCID) is a Primary Immune Deficiency that is under consideration for population-based newborn screening (NBS) by many NBS programs, and has recently been recommended for inclusion in the US uniform panel of newborn screening conditions. A marker of SCID, the T c...
  14. Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency.

    Journal of Inherited Metabolic Disease 33(Suppl 2):S273 (2010) PMID 20490925

    Severe combined immunodeficiency (SCID) is a Primary Immune Deficiency that is under consideration for population-based newborn screening (NBS) by many NBS programs, and has recently been recommended for inclusion in the US uniform panel of newborn screening conditions. A marker of SCID, the T c...
  15. High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening.

    Clinical Chemistry 56(9):1466 (2010) PMID 20660142

    Real-time quantitative PCR (qPCR) targeting a specific marker of functional T cells, the T-cell-receptor excision circle (TREC), detects the absence of functional T cells and has a demonstrated clinical validity for detecting severe combined immunodeficiency (SCID) in infants. There is need for ...
  16. High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening.

    Clinical Chemistry 56(9):1466 (2010) PMID 20660142

    Real-time quantitative PCR (qPCR) targeting a specific marker of functional T cells, the T-cell-receptor excision circle (TREC), detects the absence of functional T cells and has a demonstrated clinical validity for detecting severe combined immunodeficiency (SCID) in infants. There is need for ...
  17. Identification of an infant with severe combined immunodeficiency by newborn screening

    Journal of Allergy and Clinical Immunology 126(5):1073 (2010)

  18. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.

    Pediatrics 121(5):e1108 (2008) PMID 18450854

    Our goal was to describe the clinical spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by routine newborn screening and assess factors associated with elevations of octanoylcarnitine in newborns and characteristics associated with adverse clinical consequences of medium-chain ...
  19. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.

    Pediatrics 121(5):e1108 (2008) PMID 18450854

    Our goal was to describe the clinical spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by routine newborn screening and assess factors associated with elevations of octanoylcarnitine in newborns and characteristics associated with adverse clinical consequences of medium-chain ...
  20. Communications systems and their models: Massachusetts parent compliance with recommended specialty care after positive cystic fibrosis newborn screening result.

    The Journal of Pediatrics 147(3 Suppl):S98 (2005) PMID 16202793

    To evaluate compliance with recommendations for sweat testing/specialty evaluation and genetic counseling after a positive cystic fibrosis newborn screening (CF NBS) result. All infants with positive CF NBS results require a diagnostic sweat test at a CF center. Results that were "screen positiv...