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
Published in International journal of neonatal screening

Deletion 22q11: Spectrum of Associated Disorders

by Hay, Beverly N., MD
Published in Seminars in pediatric neurology

Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency

by Chinen, Javier, Davis, Joie, De Ravin, Suk See, Hay, Beverly N., Hsu, Amy P., Linton, Gilda F., Naumann, Nora, Nomicos, Effie Y.H., Silvin, Christopher, Ulrick, Jean, Whiting-Theobald, Narda L., Malech, Harry L., Puck, Jennifer M.
Published in Blood

Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region

by Botzenhart, Elke M., Bartalini, Gabriella, Blair, Edward, Brady, Angela F., Elmslie, Frances, Chong, Karen L., Christy, Katie, Torres-Martinez, Wilfredo, Danesino, Cesare, Deardorff, Matthew A., Fryns, Jean-Pierre, Marlin, Sandrine, Garcia-Minaur, Sixto, Hellenbroich, Yorck, Hay, Beverly N., Penttinen, Maila, Shashi, Vandana, Terhal, Paulien, Van Maldergem, Lionel, Whiteford, Margo L., Zackai, Elaine, Kohlhase, Jürgen
Published in Human mutation

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
Published in JAMA : the journal of the American Medical Association

Townes-Brocks syndrome: twenty novelSALL1 mutations in sporadic and familial cases and refinement of theSALL1 hot spot region

by Botzenhart, Elke M., Bartalini, Gabriella, Blair, Edward, Brady, Angela F., Elmslie, Frances, Chong, Karen L., Christy, Katie, Torres-Martinez, Wilfredo, Danesino, Cesare, Deardorff, Matthew A., Fryns, Jean-Pierre, Marlin, Sandrine, Garcia-Minaur, Sixto, Hellenbroich, Yorck, Hay, Beverly N., Penttinen, Maila, Shashi, Vandana, Terhal, Paulien, Van Maldergem, Lionel, Whiteford, Margo L., Zackai, Elaine, Kohlhase, Jürgen
Published in Human mutation

Newborn screening for severe combined immunodeficiency in 11 screening rograms in the United States

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

Mosaic Tetraploidy and Transient Mutations in the GFI1 Gene in a Patient with Severe Chronic Neutropenia

by Aprikyan, Andrew A.G., Hochberg, Jessica C., Miron, Patricia M., Hay, Beverly N., Woda, Bruce A., Wang, Sa, Newburger, Peter E.
Published in Blood

Identification of Human Antibody Fragment Clones Specific for Tetanus Toxoid in a Bacteriophage λ Immunoexpression Library

by Mullinax, Rebecca L., Gross, Eleanor A., Amberg, Jeff R., Hay, Beverly N., Hogrefe, Holly H., Kubitz, Marjorie M., Greener, Alan, Alting-Mees, Michele, Ardourel, Daniel, Short, Jay M., Sorge, Joseph A., Shopes, Bob
Published in Proceedings of the National Academy of Sciences - PNAS

A bacteriophage lambda vector for the cloning and expression of immunoglobulin Fab fragments on the surface of filamentous phage

by Hogrefe, Holly H., Mullinax, Rebecca L., Lovejoy, Amy E., Hay, Beverly N., Sorge, Joseph A.
Published in Gene

Cloning in a bacteriophage lambda vector for the display of binding proteins on filamentous phage

by Hogrefe, Holly H., Amberg, Jeff R., Hay, Beverly N., Sorge, Joseph A., Shopes, Bob
Published in Gene

Synthesis and characterization of a recombinant myohemerythrin protein encoded by a synthetic gene

by Alexander, Hannah, Alexander, Stephen, Heffron, Fred, Fieser, Terry M., Hay, Beverly N., Getzoff, Elizabeth D., Tainer, John A., Lerner, Richard A.
Published in Gene

Dopaminergic Neurons Protected from Degeneration by GDNF Gene Therapy

by Choi-Lundberg, Derek L., Lin, Qing, Chang, Yung-Nien, Chiang, Yawen L., Hay, Carl M., Mohajeri, Hasan, Davidson, Beverly L., Bohn, Martha C.
Published in Science (American Association for the Advancement of Science)

This Week in Science

by Yeston, Jake, Stajic, Jelena, Purnell, Beverly A., Vinson, Valda, Funk, Michael A., Fogg, Christiana N., Hay, Mark E., Stern, Peter, Scanlon, Seth Thomas, Hurtley, Stella M., Alderton, Gemma, Vignieri, Sacha, Hines, Pamela J., Kelly, Priscilla N., Ferrarelli, Leslie K., Grocholski, Brent, Czajka, Caitlin, Lavine, Marc S.
Published in Science (American Association for the Advancement of Science)

Skeletal findings in children recently initiating glucocorticoids for the treatment of nephrotic syndrome

by Feber, J., Gaboury, I., Ni, A., Alos, N., Arora, S., Bell, L., Blydt-Hansen, T., Clarson, C., Filler, G., Hay, J., Hebert, D., Lentle, B., Matzinger, M., Midgley, J., Moher, D., Pinsk, M., Rauch, F., Rodd, C., Shenouda, N., Siminoski, K., Ward, L. M.
Published in Osteoporosis international

Anatomical distribution of vertebral fractures: comparison of pediatric and adult spines

by Siminoski, K., Lee, K.-C., Jen, H., Warshawski, R., Matzinger, M. A., Shenouda, N., Charron, M., Coblentz, C., Dubois, J., Kloiber, R., Nadel, H., O’Brien, K., Reed, M., Sparrow, K., Webber, C., Lentle, B., Ward, L. M.
Published in Osteoporosis international

The development of bone mineral lateralization in the arms

by Siminoski, K., Lee, K.-C., Abish, S., Alos, N., Bell, L., Blydt-Hansen, T., Couch, R., Cummings, E. A., Ellsworth, J., Feber, J., Fernandez, C. V., Halton, J., Huber, A. M., Israels, S., Jurencak, R., Lang, B., Laverdière, C., LeBlanc, C., Lewis, V., Midgley, J., Miettunen, P. M., Oen, K., Phan, V., Pinsk, M., Rauch, F., Rodd, C., Roth, J., Saint-Cyr, C., Scuccimarri, R., Stephure, D., Taback, S., Wilson, B., Ward, L. M.
Published in Osteoporosis international