Search Results - Abbott, Mary-Alice

Hydroxysteroid 17-Beta Dehydrogenase Type 10 Disease in Siblings by Richardson, Annely, Berry, Gerard T., Garganta, Cheryl, Abbott, Mary-Alice

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The Insulin Receptor Tyrosine Kinase Substrate p58/53 and the Insulin Receptor Are Components of CNS Synapses by Abbott, Mary-Alice, Wells, David G., Fallon, Justin R.

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Atypical immunologic response in a patient with CRIM-negative Pompe disease by Abbott, Mary-Alice, Prater, Sean N., Banugaria, Suhrad G., Richards, Susan M., Young, Sarah P., Rosenberg, Amy S., Kishnani, Priya S.

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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

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GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry by Reuser, Arnold J. J., van der Ploeg, Ans T., Chien, Yin‐Hsiu, Llerena, Juan, Abbott, Mary‐Alice, Clemens, Paula R., Kimonis, Virginia E., Leslie, Nancy, Maruti, Sonia S., Sanson, Bernd‐Jan, Araujo, Roberto, Periquet, Magali, Toscano, Antonio, Kishnani, Priya S., on behalf of the Pompe Registry Sites

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Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder by Morava, Eva, Schatz, Ulrich A., Torring, Pernille M., Abbott, Mary-Alice, Baumann, Matthias, Brasch-Andersen, Charlotte, Chevalier, Nathalie, Dunkhase-Heinl, Ulrike, Fleger, Martin, Haack, Tobias B., Nelson, Stephen, Potelle, Sven, Radenkovic, Silvia, Bommer, Guido T., Van Schaftingen, Emile, Veiga-da-Cunha, Maria

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Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping by El-Hattab, Ayman W., Smolarek, Teresa A., Walker, Martha E., Schorry, Elizabeth K., Immken, LaDonna L., Patel, Gayle, Abbott, Mary-Alice, Lanpher, Brendan C., Ou, Zhishuo, Kang, Sung-Hae L., Patel, Ankita, Scaglia, Fernando, Lupski, James R., Cheung, Sau Wai, Stankiewicz, Pawel

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The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene by Stevens, Servi J. C., Stumpel, Constance T. R. M., Diderich, Karin E. M., van Slegtenhorst, Marjon A., Abbott, Mary‐Alice, Manning, Courtney, Balciuniene, Jorune, Pyle, Louise C., Leonard, Jacqueline, Murrell, Jill R., van de Putte, Romy, van Rooij, Iris A. L. M., Hoischen, Alexander, Lasko, Paul, Brunner, Han G.

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Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease by Hikmat, Omar, Isohanni, Pirjo, Keshavan, Nandaki, Ferla, Matteo P., Fassone, Elisa, Abbott, Mary‐Alice, Bellusci, Marcello, Darin, Niklas, Dimmock, David, Ghezzi, Daniele, Houlden, Henry, Invernizzi, Federica, Kamarus Jaman, Nazreen B., Kurian, Manju A., Morava, Eva, Naess, Karin, Ortigoza‐Escobar, Juan Darío, Parikh, Sumit, Pennisi, Alessandra, Barcia, Giulia, Tylleskär, Karin B., Brackman, Damien, Wortmann, Saskia B., Taylor, Jenny C., Bindoff, Laurence A., Fellman, Vineta, Rahman, Shamima

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EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum by Hüffmeier, Ulrike, Kraus, Cornelia, Reuter, Miriam S., Uebe, Steffen, Abbott, Mary-Alice, Ahmed, Syed A., Rawson, Kristyn L., Barr, Eileen, Li, Hong, Bruel, Ange-Line, Faivre, Laurence, Tran Mau-Them, Frédéric, Botti, Christina, Brooks, Susan, Burns, Kaitlyn, Ward, D. Isum, Dutra-Clarke, Marina, Martinez-Agosto, Julian A., Lee, Hane, Nelson, Stanley F., Zacher, Pia, Abou Jamra, Rami, Klöckner, Chiara, McGaughran, Julie, Kohlhase, Jürgen, Schuhmann, Sarah, Moran, Ellen, Pappas, John, Raas-Rothschild, Annick, Sacoto, Maria J. Guillen, Henderson, Lindsay B., Palculict, Timothy Blake, Mullegama, Sureni V., Zghal Elloumi, Houda, Reich, Adi, Schrier Vergano, Samantha A., Wahl, Erica, Reis, André, Zweier, Christiane

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Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions by Ng, Bobby G., Eklund, Erik A., Shiryaev, Sergey A., Dong, Yin Y., Abbott, Mary-Alice, Asteggiano, Carla, Bamshad, Michael J., Barr, Eileen, Bernstein, Jonathan A., Chelakkadan, Shabeed, Christodoulou, John, Chung, Wendy K., Ciliberto, Michael A., Cousin, Janice, Gardiner, Fiona, Ghosh, Suman, Graf, William D., Grunewald, Stephanie, Hammond, Katherine, Hauser, Natalie S., Hoganson, George E., Houck, Kimberly M., Kohler, Jennefer N., Morava, Eva, Larson, Austin A., Liu, Pengfei, Madathil, Sujana, McCormack, Colleen, Meeks, Naomi J.L., Miller, Rebecca, Monaghan, Kristin G., Nickerson, Deborah A., Palculict, Timothy Blake, Papazoglu, Gabriela Magali, Pletcher, Beth A., Scheffer, Ingrid E., Schenone, Andrea Beatriz, Schnur, Rhonda E., Si, Yue, Rowe, Leah J., Serrano Russi, Alvaro H., Russo, Rossana Sanchez, Thabet, Farouq, Tuite, Allysa, Mercedes Villanueva, María, Wang, Raymond Y., Webster, Richard I., Wilson, Dorcas, Zalan, Alice, Wolfe, Lynne A., Rosenfeld, Jill A., Rhodes, Lindsay, Freeze, Hudson H.

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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correla... by Rojnueangnit, Kitiwan, Xie, Jing, Gomes, Alicia, Sharp, Angela, Callens, Tom, Chen, Yunjia, Liu, Ying, Cochran, Meagan, Abbott, Mary‐Alice, Atkin, Joan, Babovic‐Vuksanovic, Dusica, Barnett, Christopher P., Crenshaw, Melissa, Bartholomew, Dennis W., Basel, Lina, Bellus, Gary, Ben‐Shachar, Shay, Bialer, Martin G., Bick, David, Blumberg, Bruce, Cortes, Fanny, David, Karen L., Destree, Anne, Duat‐Rodriguez, Anna, Earl, Dawn, Escobar, Luis, Eswara, Marthanda, Ezquieta, Begona, Frayling, Ian M., Frydman, Moshe, Gardner, Kathy, Gripp, Karen W., Hernández‐Chico, Concepcion, Heyrman, Kurt, Ibrahim, Jennifer, Janssens, Sandra, Keena, Beth A, Llano‐Rivas, Isabel, Leppig, Kathy, McDonald, Marie, Misra, Vinod K., Mulbury, Jennifer, Narayanan, Vinodh, Orenstein, Naama, Galvin‐Parton, Patricia, Pedro, Helio, Pivnick, Eniko K., Powell, Cynthia M., Randolph, Linda, Raskin, Salmo, Rosell, Jordi, Rubin, Karol, Seashore, Margretta, Schaaf, Christian P., Scheuerle, Angela, Schultz, Meredith, Schorry, Elizabeth, Schnur, Rhonda, Siqveland, Elizabeth, Tkachuk, Amanda, Tonsgard, James, Upadhyaya, Meena, Verma, Ishwar C., Wallace, Stephanie, Williams, Charles, Zackai, Elaine, Zonana, Jonathan, Lazaro, Conxi, Claes, Kathleen, Korf, Bruce, Martin, Yolanda, Legius, Eric, Messiaen, Ludwine

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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss by Richard, Elodie M., Bakhtiari, Somayeh, Marsh, Ashley P.L., Kaiyrzhanov, Rauan, Wagner, Matias, Shetty, Sheetal, Pagnozzi, Alex, Nordlie, Sandra M., Guida, Brandon S., Cornejo, Patricia, Magee, Helen, Liu, James, Norton, Bethany Y., Webster, Richard I., Worgan, Lisa, Hakonarson, Hakon, Li, Jiankang, Guo, Yiran, Jain, Mahim, Blesson, Alyssa, Rodan, Lance H., Abbott, Mary-Alice, Comi, Anne, Cohen, Julie S., Alhaddad, Bader, Meitinger, Thomas, Lenz, Dominic, Ziegler, Andreas, Kotzaeridou, Urania, Brunet, Theresa, Chassevent, Anna, Smith-Hicks, Constance, Ekstein, Joseph, Weiden, Tzvi, Hahn, Andreas, Zharkinbekova, Nazira, Turnpenny, Peter, Tucci, Arianna, Yelton, Melissa, Horvath, Rita, Gungor, Serdal, Hiz, Semra, Oktay, Yavuz, Lochmuller, Hanns, Zollino, Marcella, Morleo, Manuela, Marangi, Giuseppe, Nigro, Vincenzo, Torella, Annalaura, Pinelli, Michele, Amenta, Simona, Husain, Ralf A., Grossmann, Benita, Rapp, Marion, Steen, Claudia, Marquardt, Iris, Grimmel, Mona, Grasshoff, Ute, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John, Radio, Francesca Clementina, Mancini, Cecilia, Claps Sepulveda, Dianela Judith, McWalter, Kirsty, Begtrup, Amber, Crunk, Amy, Guillen Sacoto, Maria J., Person, Richard, Schnur, Rhonda E., Mancardi, Maria Margherita, Kreuder, Florian, Striano, Pasquale, Zara, Federico, Chung, Wendy K., Marks, Warren A., van Eyk, Clare L., Webber, Dani L., Corbett, Mark A., Harper, Kelly, Berry, Jesia G., MacLennan, Alastair H., Gecz, Jozef, Tartaglia, Marco, Salpietro, Vincenzo, Christodoulou, John, Kaslin, Jan, Padilla-Lopez, Sergio, Bilguvar, Kaya, Munchau, Alexander, Ahmed, Zubair M., Hufnagel, Robert B., Fahey, Michael C., Maroofian, Reza, Houlden, Henry, Sticht, Heinrich, Mane, Shrikant M., Rad, Aboulfazl, Vona, Barbara, Jin, Sheng Chih, Haack, Tobias B., Makowski, Christine, Hirsch, Yoel, Riazuddin, Saima, Kruer, Michael C.

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Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome by Sheppard, Sarah E., Campbell, Ian M., Harr, Margaret H., Gold, Nina, Li, Dong, Bjornsson, Hans T., Cohen, Julie S., Fahrner, Jill A., Fatemi, Ali, Harris, Jacqueline R., Nowak, Catherine, Stevens, Cathy A., Grand, Katheryn, Au, Margaret, Graham, John M., Sanchez-Lara, Pedro A., Campo, Miguel Del, Jones, Marilyn C., Abdul-Rahman, Omar, Alkuraya, Fowzan S., Bassetti, Jennifer A., Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D., Derar, Nada, Gripp, Karen W., Hauser, Natalie, Innes, A. Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J., Rahbeeni, Zuhair, Ben-Shachar, Shay, Shieh, Joseph T., Slavotinek, Anne, Sobering, Andrew K., Abbott, Mary-Alice, Allain, Dawn C., Amlie-Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A., Cytrynbaum, Cheryl, Chung, Brian Hon-Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores-Daboub, Josue A., Dubbs, Holly, Felix, Carolyn A., Fong, Chin-To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K., Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui-Yan, Jobling, Rebekah K., Johnson, Amy E. Knight, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D. Ross, Mentch, Frank D., Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F., Porazzi, Patrizia, Pichurin, Pavel N., Powell-Hamilton, Nina N., Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J., Falk, Marni J., Hakonarson, Hakon, Zackai, Elaine H., Quintero-Rivera, Fabiola

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The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies by Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M.H.F., Brilstra, Eva H., Brown, Chester W., Brüggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D’Hooghe, Marc, de Vries, Bert B.A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Zepeda Mendoza, Cinthya J., Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Piña Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M.L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.

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