Publications from 2012
Cellular calibrators to quantitate T-cell receptor excision circles (TRECs) in clinical samples, Divya Punwani, Diana Gonzalez-Espinosa, Anne Marie Comeau, Amalia Dutra, Evgenia Pak, and Jennifer Puck
Publications from 2011
Prevalence of a loss-of-function mutation in the proton-coupled folate transporter gene (PCFT-SLC46A1) causing hereditary folate malabsorption in Puerto Rico, Kris M. Mahadeo, Ndeye Diop-Bove, Sonia I. Ramirez, Carmen L. Cadilla, Enid Rivera, Madelena M. Martin, Norma B. Lerner, Lisa DiAntonio, Salvatore Duva, Pedro J. Santiago-Borrero, and I. David Goldman
The increased incidence of congenital hypothyroidism: fact or fancy?, Marvin L. Mitchell, Ho-Wen Hsu, Inderneel Sahai, Stuart J. Brink, Laurie E. Cohen, Rosalind S. Brown, Roger B. Eaton, Mary M. Lee, Lynne L. Levitsky, Edward Reiter, Abdollah Sadeghi-Nejad, Leslie A. Soyka, Joseph I. Wolfsdorf, and Massachusetts Pediatric Endocrine Work Group
Publications from 2010
Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency, Anne Marie Comeau, Jaime E. Hale, Sung-Yun Pai, Francisco A. Bonilla, Luigi D. Notarangelo, Mark S. Pasternack, H. Cody Meissner, Ellen Rae Cooper, Alfred DeMaria, Inderneel Sahai, and Roger B. Eaton
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, Jacalyn L. Gerstel-Thompson, Jonathan F. Wilkey, Jennifer C. Baptiste, Jennifer S. Navas, Sung-Yun Pai, Kenneth A. Pass, Roger B. Eaton, and Anne Marie Comeau
Identification of an infant with severe combined immunodeficiency by newborn screening, Jaime E. Hale, Francisco A. Bonilla, Sung-Yun Pai, Jacalyn L. Gerstel-Thompson, Luigi D. Notarangelo, Roger B. Eaton, and Anne Marie Comeau
A multiplex immunoassay using the Guthrie specimen to detect T-cell deficiencies including severe combined immunodeficiency disease, David K. Janik, Barbara Lindau-Shepard, Anne Marie Comeau, and Kenneth A. Pass
Weighing the evidence for newborn screening for early-infantile Krabbe disease, Alex R. Kemper, Alixandra A. Knapp, Nancy S. Green, Anne Marie Comeau, Danielle R. Metterville, and James M. Perrin
An evidence development process for newborn screening, James M. Perrin, Alixandra A. Knapp, Marsha F. Browning, Anne Marie Comeau, Nancy S. Green, Ellen A. Lipstein, Danielle R. Metterville, Lisa A. Prosser, Denise Queally, and Alex R. Kemper
Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: early experience in New England, Inderneel Sahai, Roger B. Eaton, Jaime E. Hale, Eleanor A. Mulcahy, and Anne Marie Comeau
Publications from 2009
Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter, Arturo Borzutzky, Brian Crompton, Anke K. Bergmann, Silvia Giliani, Sachin Baxi, Madelena M. Martin, Ellis J. Neufeld, and Luigi D. Notarangelo
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects, Emma Hilton, Jennifer Johnston, Sandra Whalen, Nobuhiko Okamoto, Yoshikazu Hatsukawa, Juntaro Nishio, Hiroshi Kohara, Yoshiko Hirano, Seiji Mizuno, Chiharu Torii, Kenjiro Kosaki, Sylvie Manouvrier, Odile Boute, Rahat Perveen, Caroline Law, Anthony Moore, David Fitzpatrick, Johannes Lemke, Florence Fellmann, Francois-Guillaume Debray, Florence Dastot-Le-Moal, Marion Gerard, Josiane Martin, Pierre Bitoun, Michel Goossens, Alain Verloes, Albert Schinzel, Deborah Bartholdi, Tanya Bardakjian, Beverly N. Hay, Kim Jenny, Kathreen Johnston, Michael Lyons, John W. Belmont, Leslie G. Biesecker, Irina Giurgea, and Graeme Black
Publications from 2008
Newborn screening showing decreasing incidence of cystic fibrosis, Jaime E. Hale, Richard B. Parad, and Anne Marie Comeau
Mosaic tetraploidy and transient GFI1 mutation in a patient with severe chronic neutropenia, Jessica C. Hochberg, Patricia M. Miron, Beverly N. Hay, Bruce A. Woda, Sa A. Wang, Monika Richert-Przygonska, Andrew A.G. Aprikyan, and Peter E. Newburger
Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening, Ho-Wen Hsu, Thomas H. Zytkovicz, Anne Marie Comeau, Arnold W. Strauss, Deborah Marsden, Vivian E. Shih, George F. Grady, and Roger B. Eaton
Early HIV-1 diagnosis using in-house real-time PCR amplification on dried blood spots for infants in remote and resource-limited settings, Nicole Pharm Ngo-Giang-Huong, Wootichai Khamduang, Baptiste Leurent, Intira Collins, Issaren Nantasen, Pranee Leechanachai, Wasna Sirirungsi, Aram Limtrakul, Tasana Leusaree, Anne Marie Comeau, Marc Lallemant, and Gonzague Jourdain
Publications from 2007
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region, Elke M. Botzenhart, Gabriella Bartalini, Edward Blair, Angela F. Brady, Frances Elmslie, Karen L. Chong, Katie Christy, Wilfredo Torres-Martinez, Cesare Danesino, Matthew A. Deardorff, Jean-Pierre Fryns, Sandrine Marlin, Sixto Garcia-Minaur, Yorck Hellenbroich, Beverly N. Hay, Maila Penttinen, Vandana Shashi, Paulien Terhal, Lionel Van Maldergem, Margo L. Whiteford, Elaine Zackai, and Jurgen Kohlhase
Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency, Javier Chinen, Joie Davis, Suk See De Ravin, Beverly N. Hay, Amy P. Hsu, Gilda F. Linton, Nora Naumann, Effie Y. H. Nomicos, Christopher Silvin, Jean Ulrick, Narda L. Whiting-Theobald, Harry L. Malech, and Jennifer M. Puck
Newborn Screening Expansion: Massachusetts Research Models Encompass Public Health Service Responsibility, Anne Marie Comeau
Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report, Anne Marie Comeau, Frank J. Accurso, Terry B. White, Preston W. Campbell, Gary Hoffman, Richard B. Parad, Benjamin S. Wilfond, Margaret Rosenfeld, Marci K. Sontag, John H. Massie, Philip M. Farrell, and Brian P. O'Sullivan
Deletion 22q11: spectrum of associated disorders, Beverly N. Hay
The phakomatoses: dermatologic clues to neurologic anomalies, Catherine Bearce Nowak
Population-based newborn screening for severe combined immunodeficiency: steps toward implementation, Jennifer M. Puck, SCID Newborn Screening Working Group, and Anne Marie Comeau
Publications from 2006
Early pulmonary manifestation of cystic fibrosis in children with the DeltaF508/R117H-7T genotype, Brian P. O'Sullivan, Robert G. Zwerdling, Henry L. Dorkin, Anne Marie Comeau, and Richard B. Parad
Pilot programs in newborn screening, Kenneth Pass, Nancy S. Green, Fred Lorey, John Sherwin, and Anne Marie Comeau
Publications from 2005
Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm, Richard B. Parad and Anne Marie Comeau
Publications from 2004
Integration of new genetic diseases into statewide newborn screening: New England experience, Anne Marie Comeau, Cecilia A. Larson, and Roger B. Eaton
Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs, Scott D. Grosse, Coleen A. Boyle, Jeffrey R. Botkin, Anne Marie Comeau, Martin Kharrazi, Margaret Rosenfeld, and Benjamin S. Wilfond
Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment, Beverly N. Hay, Julie E. Martin, Barbara I. Karp, Joie Davis, Dirk Darnell, Beth Solomon, Maria Turner, Steven M. Holland, and Jennifer M. Puck
Publications from 2003
Multicenter evaluation of use of dried blood and plasma spot specimens in quantitative assays for human immunodeficiency virus RNA: measurement, precision, and RNA stability, Don Brambilla, Cheryl Jennings, Grace Aldrovandi, James Bremer, Anne Marie Comeau, Sharon A. Cassol, Ruth Dickover, J. Brooks Jackson, Jane Pitt, John L. Sullivan, Ann Butcher, Lynell Grosso, Patricia Reichelderfer, and Susan A. Fiscus
Publications from 2002
Successes of newborn screening programs, Anne Marie Comeau and Roger B. Eaton
Publications from 2001
Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center, Patricia G. Wheeler, Rosemarie Smith, Henry L. Dorkin, Richard B. Parad, Anne Marie Comeau, and Diana W. Bianchi
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program, Thomas H. Zytkovicz, Eileen F. Fitzgerald, Deborah Marsden, Cecilia A. Larson, Vivian E. Shih, Donna M. Johnson, Arnold W. Strauss, Anne Marie Comeau, Roger B. Eaton, and George F. Grady
Publications from 2000
A trial of shortened zidovudine regimens to prevent mother-to-child transmission of human immunodeficiency virus type 1. Perinatal HIV Prevention Trial (Thailand) Investigators, Marc Lallemant, Gonzague Jourdain, Sophie Le Coeur, Soyeon Kim, Suporn Koetsawang, Anne Marie Comeau, Wiput Phoolcharoen, Max Essex, Kenneth McIntosh, and Vicharn Vithayasai
Publications from 1999
Cellulose as a matrix for nucleic acid purification, Xing Su and Anne Marie Comeau