Identification of EPCAM mutation: clinical use of microarray

por Tan, Queenie K.‐G., Cardona, Diana M., Rehder, Catherine W., McDonald, Marie T.
Publicado 2017

Physical activity and sedentary behaviour and their associations with clinical measures in axial spondyloarthritis

por Coulter, Elaine H., McDonald, Marie Therese, Cameron, Sara, Siebert, Stefan, Paul, Lorna
Publicado 2019

A case report of mevalonate kinase deficiency in a 14-month-old female with fevers and lower extremity weakness

por Coppola, Tiziana, Becken, Bradford, Van Mater, Heather, McDonald, Marie Theresa, Panayotti, Gabriela Maradiaga
Publicado 2019

An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy

por Goker-Alpan, Ozlem, Longo, Nicola, McDonald, Marie, Shankar, Suma P, Schiffmann, Raphael, Chang, Peter, Shen, Yinghua, Pano, Arian
Publicado 2016

Clinical application of exome sequencing in undiagnosed genetic conditions

por Need, Anna C, Shashi, Vandana, Hitomi, Yuki, Schoch, Kelly, Shianna, Kevin V, McDonald, Marie T, Meisler, Miriam H, Goldstein, David B
Publicado 2012

Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant

por Moss, Tonya, May, Melanie, Flanagan-Steet, Heather, Caylor, Raymond, Jiang, Yong-Hui, McDonald, Marie, Friez, Michael, McConkie-Rosell, Allyn, Steet, Richard
Publicado 2021

High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations

por Shieh, Meg, Amkraut, Keren, Spiridigliozzi, Gail A., Adayev, Tatyana, Nicholson, Kaylea, McConkie‐Rosell, Allyn, McDonald, Marie, Pennington, Malinda, Sebastian, Siby, Lachiewicz, Ave M.
Publicado 2023

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

por Schoch, Kelly, Tan, Queenie K.-G., Stong, Nicholas, Deak, Kristen L., McConkie-Rosell, Allyn, McDonald, Marie T., Goldstein, David B., Jiang, Yong-hui, Shashi, Vandana
Publicado 2020

Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline

por Beaman, Makenzie, Fisher, Kimberley, McDonald, Marie, Tan, Queenie K. G., Jackson, David, Cocanougher, Benjamin T., Landstrom, Andrew P., Hobbs, Charlotte A., Cotten, Michael, Cohen, Jennifer L.
Publicado 2022

CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age

por Mizumoto, Shuji, Janecke, Andreas R., Sadeghpour, Azita, Povysil, Gundula, McDonald, Marie T., Unger, Sheila, Greber‐Platzer, Susanne, Deak, Kristen L., Katsanis, Nicholas, Superti‐Furga, Andrea, Sugahara, Kazuyuki, Davis, Erica E., Yamada, Shuhei, Vodopiutz, Julia
Publicado 2019

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

por Laboy Cintron, Dianne, Muir, Alison M., Scott, Abbey, McDonald, Marie, Monaghan, Kristin G., Santiago-Sim, Teresa, Wentzensen, Ingrid M., De Luca, Chiara, Brancati, Francesco, Harris, David J., Goueli, Cecilia, Stottmann, Rolf, Prada, Carlos E., Biderman Waberski, Marta, Mefford, Heather C.
Publicado 2021

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

por Yu, Timothy W., Mochida, Ganeshwaran H., Tischfield, David J., Sgaier, Sema K., Flores-Sarnat, Laura, Sergi, Consolato M., Topçu, Meral, McDonald, Marie T., Barry, Brenda J., Felie, Jillian, Sunu, Christine, Dobyns, William B., Folkerth, Rebecca D., Barkovich, A. James, Walsh, Christopher A.
Publicado 2010

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

por Ballif, Blake C, Theisen, Aaron, Coppinger, Justine, Gowans, Gordon C, Hersh, Joseph H, Madan-Khetarpal, Suneeta, Schmidt, Karen R, Tervo, Raymond, Escobar, Luis F, Friedrich, Christopher A, McDonald, Marie, Campbell, Lindsey, Ming, Jeffrey E, Zackai, Elaine H, Bejjani, Bassem A, Shaffer, Lisa G
Publicado 2008

Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males

por Kreienkamp, Hans-Jürgen, Wagner, Matias, Weigand, Heike, McConkie-Rossell, Allyn, McDonald, Marie, Keren, Boris, Mignot, Cyril, Gauthier, Julie, Soucy, Jean-François, Michaud, Jacques L., Dumas, Meghan, Smith, Rosemarie, Löbel, Ulrike, Hempel, Maja, Kubisch, Christian, Denecke, Jonas, Campeau, Philippe M., Bain, Jennifer M., Lessel, Davor
Publicado 2021

The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase

por Larsen, Ida Signe Bohse, Povolo, Lorenzo, Zhou, Luping, Tian, Weihua, Mygind, Kasper Johansen, Hintze, John, Jiang, Chen, Hartill, Verity, Prescott, Katrina, Johnson, Colin A., Mullegama, Sureni V., McConkie-Rosell, Allyn, McDonald, Marie, Hansen, Lars, Vakhrushev, Sergey Y., Schjoldager, Katrine T., Clausen, Henrik, Worzfeld, Thomas, Joshi, Hiren J., Halim, Adnan
Publicado 2023

Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features

por Tan, Queenie K.-G., Cope, Heidi, Spillmann, Rebecca C., Stong, Nicholas, Jiang, Yong-Hui, McDonald, Marie T., Rothman, Jennifer A., Butler, Megan W., Frush, Donald P., Lachman, Ralph S., Lee, Brendan, Bacino, Carlos A., Bonner, Melanie J., McCall, Chad M., Pendse, Avani A., Walley, Nicole, Shashi, Vandana, Pena, Loren D.M.
Publicado 2018

De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy

por Esmaeeli Nieh, Sahar, Madou, Maura R Z, Sirajuddin, Minhajuddin, Fregeau, Brieana, McKnight, Dianalee, Lexa, Katrina, Strober, Jonathan, Spaeth, Christine, Hallinan, Barbara E, Smaoui, Nizar, Pappas, John G, Burrow, Thomas A, McDonald, Marie T, Latibashvili, Mariam, Leshinsky-Silver, Esther, Lev, Dorit, Blumkin, Luba, Vale, Ronald D, Barkovich, Anthony James, Sherr, Elliott H
Publicado 2015

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

por Mefford, Heather C, Rosenfeld, Jill A, Shur, Natasha, Slavotinek, Anne M, Cox, Victoria A, Hennekam, Raoul C, Firth, Helen V, Willatt, Lionel, Wheeler, Patricia, Morrow, Eric M, Cook, Joseph, Sullivan, Rachel, Oh, Albert, McDonald, Marie T, Zonana, Jonathan, Keller, Kory, Hannibal, Mark C, Ball, Susie, Kussmann, Jennifer, Gorski, Jerome, Zelewski, Susan, Banks, Valerie, Smith, Wendy, Smith, Rosemarie, Paull, Lindsay, Rosenbaum, Kenneth N, Amor, David J, Silva, Joao, Lamb, Allen, Eichler, Evan E
Publicado 2011

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

por Schwarz, Niklas, Seiffert, Simone, Pendziwiat, Manuela, Rademacher, Annika Verena, Brünger, Tobias, Hedrich, Ulrike B.S., Augustijn, Paul B., Baier, Hartmut, Bayat, Allan, Bisulli, Francesca, Buono, Russell J., Bruria, Ben Zeev, Doyle, Michael G., Guerrini, Renzo, Heimer, Gali, Iacomino, Michele, Kearney, Hugh, Klein, Karl Martin, Kousiappa, Ioanna, Kunz, Wolfram S., Lerche, Holger, Licchetta, Laura, Lohmann, Ebba, Minardi, Raffaella, McDonald, Marie, Montgomery, Sarah, Mulahasanovic, Lejla, Oegema, Renske, Ortal, Barel, Papacostas, Savvas S., Ragona, Francesca, Granata, Tiziana, Reif, Phillip S., Rosenow, Felix, Rothschild, Annick, Scudieri, Paolo, Striano, Pasquale, Tinuper, Paolo, Tanteles, George A., Vetro, Annalisa, Zahnert, Felix, Goldberg, Ethan M., Zara, Federico, Lal, Dennis, May, Patrick, Muhle, Hiltrud, Helbig, Ingo, Weber, Yvonne
Publicado 2022

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

por Zhang, Chaofan, Jolly, Angad, Shayota, Brian J., Mazzeu, Juliana F., Du, Haowei, Dawood, Moez, Soper, Patricia Celestino, Ramalho de Lima, Ariadne, Ferreira, Bárbara Merfort, Coban-Akdemir, Zeynep, White, Janson, Shears, Deborah, Thomson, Fraser Robert, Douglas, Sarah Louise, Wainwright, Andrew, Bailey, Kathryn, Wordsworth, Paul, Oldridge, Mike, Lester, Tracy, Calder, Alistair D., Dumic, Katja, Banka, Siddharth, Donnai, Dian, Jhangiani, Shalini N., Potocki, Lorraine, Chung, Wendy K., Mora, Sara, Northrup, Hope, Ashfaq, Myla, Rosenfeld, Jill A., Mason, Kati, Pollack, Lynda C., McConkie-Rosell, Allyn, Kelly, Wei, McDonald, Marie, Hauser, Natalie S., Leahy, Peter, Powell, Cynthia M., Boy, Raquel, Honjo, Rachel Sayuri, Kok, Fernando, Martelli, Lucia R., Filho, Vicente Odone, Genomics England Research Consortium, Muzny, Donna M., Gibbs, Richard A., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Sutton, V. Reid, Carvalho, Claudia M.B.
Publicado 2021