This collection showcases the journal articles and other publications authored by faculty and researchers in the Division of Genetics in the Department of Pediatrics at the University of Massachusetts Medical School.

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Publications from 2013

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Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: a four-year summary by the New England newborn screening program, Thomas H. Zytkovicz, Inderneel Sahai, Amii Rush, Adedoyin Odewale, Donna M. Johnson, Eileen F. Fitzgerald, Deborah Britton, and Roger B. Eaton

Publications from 2012

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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Newborn screening showing decreasing incidence of cystic fibrosis, Jaime E. Hale, Richard B. Parad, and Anne Marie Comeau

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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

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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

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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

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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

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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

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Newborn Screening Expansion: Massachusetts Research Models Encompass Public Health Service Responsibility, Anne Marie Comeau

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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

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Deletion 22q11: spectrum of associated disorders, Beverly N. Hay

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The phakomatoses: dermatologic clues to neurologic anomalies, Catherine Bearce Nowak

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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

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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

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Pilot programs in newborn screening, Kenneth Pass, Nancy S. Green, Fred Lorey, John Sherwin, and Anne Marie Comeau

Publications from 2005

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Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm, Richard B. Parad and Anne Marie Comeau

Publications from 2004

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Integration of new genetic diseases into statewide newborn screening: New England experience, Anne Marie Comeau, Cecilia A. Larson, and Roger B. Eaton

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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

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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

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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

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Successes of newborn screening programs, Anne Marie Comeau and Roger B. Eaton

Publications from 2001

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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

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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

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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

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Cellulose as a matrix for nucleic acid purification, Xing Su and Anne Marie Comeau