Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States von 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

Volltext

Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy von 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

Volltext

Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors von 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

Volltext

Weighing the evidence for newborn screening for early-infantile Krabbe disease von Kemper, Alex R., Knapp, Alixandra A., Green, Nancy S., Comeau, Anne Marie, Metterville, Danielle R., Perrin, James M.

Volltext

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

Volltext

Identification of an infant with severe combined immunodeficiency by newborn screening von 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

Volltext

First reported case of Omenn syndrome in a patient with reticular dysgenesis von Henderson, Lauren A., MD, Frugoni, Francesco, PhD, Hopkins, Gregory, BS, Al-Herz, Waleed, MD, Weinacht, Katja, MD, Comeau, Anne Marie, PhD, Bonilla, Francisco A., MD, PhD, Notarangelo, Luigi D., MD, Pai, Sung-Yun, MD

Volltext

Paradigm shifts in newborn screening? von Comeau, Anne Marie

Volltext

Defining a new immune deficiency syndrome: MAN2B2-CDG von Verheijen, Jan, Wong, Sunnie Y., Rowe, Jared H., Raymond, Kimiyo, Stoddard, Jennifer, Delmonte, Ottavia M., Bosticardo, Marita, Dobbs, Kerry, Niemela, Julie, Calzoni, Enrica, Pai, Sung-Yun, Choi, Uimook, Yamazaki, Yasuhiro, Comeau, Anne Marie, Janssen, Erin, Henderson, Lauren, Hazen, Melissa, Berry, Gerard, Rosenzweig, Sergio D., Aldhekri, Hasan Hamdan, He, Miao, Notarangelo, Luigi D., Morava, Eva

Volltext

Multicenter Evaluation of Use of Dried Blood and Plasma Spot Specimens in Quantitative Assays for Human Immunodeficiency Virus RNA: Measurement, Precision, and RNA Stability von BRAMBILLA, Don, JENNINGS, Cheryl, BUTCHER, Ann, GROSSO, Lynell, REICHELDERFER, Patricia, FISCUS, Susan A, ALDROVANDI, Grace, BREMER, James, COMEAU, Anne Marie, CASSOL, Sharon A, DICKOVER, Ruth, JACKSON, J. Brooks, PITT, Jane, SULLIVAN, John L

Volltext

Spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency Detected by Newborn Screening von Hsu, Ho-Wen, Zytkovicz, Thomas H, Comeau, Anne Marie, Strauss, Arnold W, Marsden, Deborah, Shih, Vivian E, Grady, George F, Eaton, Roger B

Volltext

Weighing the Evidence for Newborn Screening for Hemoglobin H Disease von Kemper, Alex R., MD, MPH, MS, Knapp, Alixandra A., MS, Metterville, Danielle R., MS, Comeau, Anne Marie, PhD, Green, Nancy S., MD, Perrin, James M., MD

Volltext

Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening von Ream, Margie A, Lam, Wendy K K, Grosse, Scott D, Ojodu, Jelili, Jones, Elizabeth, Prosser, Lisa A, Rose, Angela M, Comeau, Anne Marie, Tanksley, Susan, Powell, Cynthia M, Kemper, Alex R

Volltext

Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation von Kemper, Alex R., Brosco, Jeffrey, Comeau, Anne Marie, Green, Nancy S., Grosse, Scott D., Jones, Elizabeth, Kwon, Jennifer M., Lam, Wendy K.K., Ojodu, Jelili, Prosser, Lisa A., Tanksley, Susan

Volltext

Trends in Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Seroprevalence in Massachusetts Estimated from Newborn Screening Specimens von 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

Volltext

Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States von Ream, Margie A., Lam, Wendy K.K., Grosse, Scott D., Ojodu, Jelili, Jones, Elizabeth, Prosser, Lisa A., Rosé, Angela M., Comeau, Anne Marie, Tanksley, Susan, Powell, Cynthia M., Kemper, Alex R.

Volltext

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresias von Chen, Rui, PhD, Giliani, Silvia, PhD, Lanzi, Gaetana, PhD, Mias, George I., PhD, Lonardi, Silvia, BS, Dobbs, Kerry, BS, Manis, John, MD, Im, Hogune, PhD, Gallagher, Jennifer E., PhD, Phanstiel, Douglas H., PhD, Euskirchen, Ghia, PhD, Lacroute, Philippe, PhD, Bettinger, Keith, MS, Moratto, Daniele, PhD, Weinacht, Katja, MD, Montin, Davide, MD, Gallo, Eleonora, MD, Mangili, Giovanna, MD, Porta, Fulvio, MD, Notarangelo, Lucia D., MD, Pedretti, Stefania, MD, Al-Herz, Waleed, MD, Alfahdli, Wasmi, MD, Comeau, Anne Marie, PhD, Traister, Russell S., MD, PhD, Pai, Sung-Yun, MD, Carella, Graziella, PhD, Facchetti, Fabio, MD, Nadeau, Kari C., MD, PhD, Snyder, Michael, PhD, Notarangelo, Luigi D., MD

Volltext

Ten Years of Newborn Screening for Severe Combined Immunodeficiency (SCID) in Massachusetts von 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

Volltext

Defining a new immune deficiency syndrome: MAN2B2-CDG von Verheijen, Jan, Wong, Sunnie Y, Rowe, Jared H, Raymond, Kimiyo, Stoddard, Jennifer, Delmonte, Ottavia M, Bosticardo, Marita, Dobbs, Kerry, Niemela, Julie, Calzoni, Enrica, Pai, Sung-Yun, Choi, Uimook, Yamazaki, Yasuhiro, Comeau, Anne Marie, Janssen, Erin, Henderson, Lauren, Hazen, Melissa, Berry, Gerard, Rosenzweig, Sergio D., Aldhekri, Hasan Hamdan, He, Miao, Notarangelo, Luigi D., Morava, Eva

Volltext

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

Volltext