Search Results - "Hale, Jaime E."

Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy by Hale, Jaime E., Darras, Basil T., Swoboda, Kathryn J., Estrella, Elicia, Chen, Jin Yun Helen, Abbott, Mary-Alice, Hay, Beverly N., Kumar, Binod, Counihan, Anne M., Gerstel-Thompson, Jacalyn, Sahai, Inderneel, Eaton, Roger B., Comeau, Anne Marie

“…Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn…”
Get full text

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors by Kharrazi, Martin, Sacramento, Charlene, Comeau, Anne Marie, Hale, Jaime E, Caggana, Michele, Kay, Denise M, Lee, Rachel, Reilly, Brendan, Thompson, John D, Nasr, Samya Z, Kleyn, Mary, Hoffman, Gary, Baker, Mei W, Clarke, Colleen, Harris, Cheryl L, Dorley, M Christine, Fryman, Hilary, Sutaria, Ankit, Hietala, Amy, Winslow, Holly, Richards, Holly, Therrell, Bradford L

“…Testing immunoreactive trypsinogen (IRT) is the first step in cystic fibrosis (CF) newborn screening. While high IRT is associated with CF, some cases are…”
Get full text

Novel Modification of a Confirmatory SMA Sequencing Assay that Can Be Used to Determine SMN2 Copy Number by Kumar, Binod, Barton, Samantha, Kordowska, Jolanta, Eaton, Roger B., Counihan, Anne M., Hale, Jaime E., Comeau, Anne Marie

“…Promising treatments for spinal muscular atrophy (SMA), the leading genetic cause of infant mortality, prompted calls for inclusion in newborn screening (NBS)…”
Get full text

Identification of an infant with severe combined immunodeficiency by newborn screening by Hale, Jaime E., BS, Bonilla, Francisco A., MD, PhD, Pai, Sung-Yun, MD, Gerstel-Thompson, Jacalyn L., MS, Notarangelo, Luigi D., MD, Eaton, Roger B., PhD, Comeau, Anne Marie, PhD

“…Allogeneic hematopoietic cell transplantation has been used successfully to treat SCID, and outcomes are substantially better when transplant occurs early,…”
Get full text

Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening by Purswani, Pooja, Meehan, Cristina Adelia, Kuehn, Hye Sun, Chang, Yenhui, Dasso, Joseph F, Meyer, Anna K, Ujhazi, Boglarka, Csomos, Krisztian, Lindsay, David, Alberdi, Taylor, Joychan, Sonia, Trotter, Jessica, Duff, Carla, Ellison, Maryssa, Bleesing, Jack, Kumanovics, Attila, Comeau, Anne M, Hale, Jaime E, Notarangelo, Luigi D, Torgersen, Troy R, Ochs, Hans D, Sriaroon, Panida, Oshrine, Benjamin, Petrovic, Aleksandra, Rosenzweig, Sergio D, Leiding, Jennifer W, Walter, Jolan E

“…In the era of newborn screening (NBS) for severe combined immunodeficiency (SCID) and the possibility of gene therapy (GT), it is important to link SCID…”
Get full text

Trends in Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Seroprevalence in Massachusetts Estimated from Newborn Screening Specimens by Ma, Kevin C, Hale, Jaime E, Grad, Yonatan H, Alter, Galit, Luzuriaga, Katherine, Eaton, Roger B, Fischinger, Stephanie, Kaur, Devinder, Brody, Robin, Siddiqui, Sameed M, Leach, Dylan, Brown, Catherine M, Klevens, R Monina, Madoff, Lawrence, Comeau, Anne Marie

“…Abstract Background Estimating the cumulative incidence of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is essential for setting public health…”
Get full text

Cystic Fibrosis Foundation Evidence-Based Guideline for the Management of CRMS/CFSPID by Green, Deanna M, Lahiri, Thomas, Raraigh, Karen S, Ruiz, Fadel, Spano, Jacquelyn, Antos, Nicholas, Bonitz, Lynn, Christon, Lillian, Gregoire-Bottex, Myrtha, Hale, Jaime E, Langfelder-Schwind, Elinor, La Parra Perez, Álvaro, Maguiness, Karen, Massie, John, McElroy-Barker, Erin, McGarry, Meghan E, Mercier, Angelique, Munck, Anne, Oliver, Kathryn E, Self, Staci, Singh, Kathryn, Smiley, Michael, Snodgrass, Steven, Tluczek, Audrey, Tuley, Pamela, Lomas, Paula, Wong, Elise, Hempstead, Sarah E, Faro, Albert, Ren, Clement L

“…A multidisciplinary committee developed evidence-based guidelines for the management of cystic fibrosis transmembrane conductance regulator-related metabolic…”
Get full text

Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts by Hale, Jaime E., Platt, Craig D., Bonilla, Francisco A., Hay, Beverly N., Sullivan, John L., Johnston, Alicia M., Pasternack, Mark S., Hesterberg, Paul E., Meissner, H. Cody, Cooper, Ellen R., Barmettler, Sara, Farmer, Jocelyn R., Fisher, Donna, Walter, Jolan E., Yang, Nancy J., Sahai, Inderneel, Eaton, Roger B., DeMaria, Alfred, Notarangelo, Luigi D., Pai, Sung-Yun, Comeau, Anne Marie

“…Massachusetts began newborn screening (NBS) for severe combined immunodeficiency (SCID) using measurement of T-cell receptor excision circles (TRECs) from…”
Get full text

Newborn Screening Showing Decreasing Incidence of Cystic Fibrosis by Hale, Jaime E, Parad, Richard B, Comeau, Anne Marie

“…To the Editor: Newborn screening for cystic fibrosis has been universally available in Massachusetts since February 1999. 1 The sensitivity of the screening…”
Get full text

Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies by Goda, Vera, Malik, Aniko, Kalmar, Tibor, Maroti, Zoltan, Patel, Bhumika, Ujhazi, Boglarka, Csomos, Krisztian, Hale, Jaime E., Chen, Karin, Bleesing, Jacob, Palma, Paolo, Cancrini, Caterina, Comeau, Anne M., Krivan, Gergely, Walter, Jolan E.

“…RAG1/2 deficiency has a broad phenotypic spectrum including combined immunodeficiency with granulomatous disease and/or autoimmunity (CID-G/AI) where milder…”
Get full text

Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency by Comeau, Anne Marie, Hale, Jaime E, Pai, Sung-Yun, Bonilla, Francisco A, Notarangelo, Luigi D, Pasternack, Mark S, Meissner, H. Cody, Cooper, Ellen Rae, DeMaria, Alfred, Sahai, Inderneel, Eaton, Roger B

“…Severe combined immunodeficiency (SCID) is a Primary Immune Deficiency that is under consideration for population-based newborn screening (NBS) by many NBS…”
Get full text

Cystic fibrosis newborn screening: using experience to optimize the screening algorithm by Hale, Jaime E, Parad, Richard B, Dorkin, Henry L, Gerstle, Robert, Lapey, Allen, O'Sullivan, Brian P, Spencer, Terry, Yee, William, Comeau, Anne Marie

“…Newborn screening (NBS) for cystic fibrosis (CF) offers the opportunity for early diagnosis and improved outcomes in patients with CF and has been universally…”
Get full text

Long-term follow-up to ensure quality care of individuals diagnosed with newborn screening conditions: Early experience in New England by Sahai, Inderneel, Eaton, Roger B., Hale, Jaime E., Mulcahy, Eleanor A., Comeau, Anne Marie

“…To fulfill the purpose of newborn screening, comprehensive newborn screening programs must ensure that infants and children with newborn screening conditions…”
Get full text

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States by Kwan, Antonia, Abraham, Roshini S, Currier, Robert, Brower, Amy, Andruszewski, Karen, Abbott, Jordan K, Baker, Mei, Ballow, Mark, Bartoshesky, Louis E, Bonilla, Francisco A, Brokopp, Charles, Brooks, Edward, Caggana, Michele, Celestin, Jocelyn, Church, Joseph A, Comeau, Anne Marie, Connelly, James A, Cowan, Morton J, Cunningham-Rundles, Charlotte, Dasu, Trivikram, Dave, Nina, De La Morena, Maria T, Duffner, Ulrich, Fong, Chin-To, Forbes, Lisa, Freedenberg, Debra, Gelfand, Erwin W, Hale, Jaime E, Hanson, I. Celine, Hay, Beverly N, Hu, Diana, Infante, Anthony, Johnson, Daisy, Kapoor, Neena, Kay, Denise M, Kohn, Donald B, Lee, Rachel, Lehman, Heather, Lin, Zhili, Lorey, Fred, Abdel-Mageed, Aly, Manning, Adrienne, McGhee, Sean, Moore, Theodore B, Naides, Stanley J, Notarangelo, Luigi D, Orange, Jordan S, Pai, Sung-Yun, Porteus, Matthew, Rodriguez, Ray, Romberg, Neil, Routes, John, Ruehle, Mary, Rubenstein, Arye, Saavedra-Matiz, Carlos A, Scott, Ginger, Scott, Patricia M, Secord, Elizabeth, Seroogy, Christine, Shearer, William T, Siegel, Subhadra, Silvers, Stacy K, Stiehm, E. Richard, Sugerman, Robert W, Sullivan, John L, Tanksley, Susan, Tierce, Millard L, Verbsky, James, Vogel, Beth, Walker, Rosalyn, Walkovich, Kelly, Walter, Jolan E, Wasserman, Richard L, Watson, Michael S, Weinberg, Geoffrey A, Weiner, Leonard B, Wood, Heather, Yates, Anne B, Puck, Jennifer M

“…IMPORTANCE: Newborn screening for severe combined immunodeficiency (SCID) using assays to detect T-cell receptor excision circles (TRECs) began in Wisconsin in…”
Get full text

Partial RAG Deficiency in a Patient with Varicella Infection, Autoimmune Cytopenia, and Anti-Cytokine Antibodies by Goda, Vera, Malik, Aniko, Kalmar, Tibor, Maroti, Zoltan, Patel, Bhumika, Ujhaz, Boglarka, Csomos, Krisztian, Hale, Jaime E., Chen, Karin, Bleesing, Jacob, Palma, Paolo, Cancrini, Caterina, Comeau, Anne M., Krivan, Gergely, Walter, Jolan E

Get full text

Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies by Goda, Vera, Malik, Aniko, Kalmar, Tibor, Maroti, Zoltan, Patel, Bhumika, Ujhazi, Boglarka, Csomos, Krisztian, Hale, Jaime E, Chen, Karin, Bleesing, Jacob, Palma, Paolo, Cancrini, Caterina, Comeau, Anne M, Krivan, Gergely, Walter, Jolan E

Get full text

Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening by Purswani, Pooja, Meehan, Cristina Adelia, Kuehn, Hye Sun, Chang, Yenhui, Dasso, Joseph F, Meyer, Anna K, Ujhazi, Boglarka, Csomos, Krisztian, Lindsay, David, Alberdi, Taylor, Joychan, Sonia, Trotter, Jessica, Duff, Carla, Ellison, Maryssa, Bleesing, Jack, Kumanovics, Attila, Comeau, Anne M, Hale, Jaime E, Notarangelo, Luigi D, Torgersen, Troy R, Ochs, Hans D, Sriaroon, Panida, Oshrine, Benjamin, Petrovic, Aleksandra, Rosenzweig, Sergio D, Leiding, Jennifer W, Walter, Jolan E

Get full text

Identification of an infant with severe combined immunodeficiency by newborn screening by Hale, Jaime E, Bonilla, Francisco A, Pai, Sung-Yun, Gerstel-Thompson, Jacalyn L, Notarangelo, Luigi D, Eaton, Roger B, Comeau, Anne Marie

Get full text