Early Diagnosed and Treated Glutaric Acidemia Type 1 Female Presenting with Subependymal Nodules in Adulthood

di Patel, Bimal, Pendyal, Surekha, Kishnani, Priya S., McDonald, Marie, Bailey, Lauren
Pubblicato in JIMD Rep (2017)

Identification of EPCAM mutation: clinical use of microarray

di Tan, Queenie K.‐G., Cardona, Diana M., Rehder, Catherine W., McDonald, Marie T.
Pubblicato in Clin Case Rep (2017)

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

di Coulter, Elaine H., McDonald, Marie Therese, Cameron, Sara, Siebert, Stefan, Paul, Lorna
Pubblicato in Rheumatol Int (2019)

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

di Coppola, Tiziana, Becken, Bradford, Van Mater, Heather, McDonald, Marie Theresa, Panayotti, Gabriela Maradiaga
Pubblicato in BMC Pediatr (2019)

An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome

di Williams, Jason L., McDonald, Marie T., Seifert, Bryce A., Deak, Kristen L., Rehder, Catherine W., Campbell, Michael J.
Pubblicato in J Pediatr Genet (2021)

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

di Goker-Alpan, Ozlem, Longo, Nicola, McDonald, Marie, Shankar, Suma P, Schiffmann, Raphael, Chang, Peter, Shen, Yinghua, Pano, Arian
Pubblicato in Drug Des Devel Ther (2016)

Clinical application of exome sequencing in undiagnosed genetic conditions

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

Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutar...

di Prasun, Pankaj, Young, Sarah, Salomons, Gajja, Werneke, Andrea, Jiang, Yong-hui, Struys, Eduard, Paige, Mikell, Avantaggiati, Maria Laura, McDonald, Marie
Pubblicato in JIMD Rep (2015)

A Gain-of-Function Mutation in KCNMA1 Causes Dystonia Spells Controlled with Stimulant Therapy

di Zhang, Guohui, Gibson, Rebecca A., McDonald, Marie, Liang, Pengfei, Kang, Po Wei, Shi, Jingyi, Yang, Huanghe, Cui, Jianmin, Mikati, Mohamad A.
Pubblicato in Mov Disord (2020)

Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited P...

di Gururangan, Sridharan, Frankel, Wendy, Broaddus, Russell, Clendenning, Mark, Senter, Leigha, McDonald, Marie, Eastwood, James, Reardon, David, Vredenburgh, James, Quinn, Jennifer, Friedman, Henry S.
Pubblicazione 2008

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

di Moss, Tonya, May, Melanie, Flanagan-Steet, Heather, Caylor, Raymond, Jiang, Yong-Hui, McDonald, Marie, Friez, Michael, McConkie-Rosell, Allyn, Steet, Richard
Pubblicato in Cold Spring Harb Mol Case Stud (2021)

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies

di Khan, Tahir N., Khan, Kamal, Sadeghpour, Azita, Reynolds, Hannah, Perilla, Yezmin, McDonald, Marie T., Gallentine, William B., Baig, Shahid M., Davis, Erica E., Katsanis, Nicholas
Pubblicato in Am J Hum Genet (2019)

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

di 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
Pubblicato in Genet Med (2020)

Early Onset Severe ATP1A2 Epileptic Encephalopathy: Clinical Characteristics and Underlying Mutations

di Moya-Mendez, Mary E., Mueller, David M., Pratt, Milton, Bonner, Melanie, Elliott, Courtney, Hunanyan, Arsen, Kucera, Gary, Bock, Cheryl, Prange, Lyndsey, Jasien, Joan, Keough, Karen, Shashi, Vandana, McDonald, Marie, Mikati, Mohamad A.
Pubblicato in Epilepsy Behav (2021)

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

di 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
Pubblicato in Hum Mutat (2019)

Biallelic mutations in FDXR cause neurodegeneration associated with inflammation

di Slone, Jesse, Peng, Yanyan, Chamberlin, Adam, Harris, Belinda, Kaylor, Julie, McDonald, Marie T., Lemmon, Monica, El-Dairi, Mays Antonine, Tchapyjnikov, Dmitry, Gonzalez-Krellwitz, Laura A, Sellars, Elizabeth A., McConkie-Rosell, Allyn, Reinholdt, Laura G., Huang, Taosheng
Pubblicato in J Hum Genet (2018)

Novel Pathogenic Variants in FOXP3 in Fetuses with Echogenic Bowel and Skin Desquamation Identified by Ultrasound

di Louie, Raymond J., Tan, Queenie K.-G., Gilner, Jennifer B., Rogers, R. Curtis, Younge, Noelle, Wechsler, Stephanie B., McDonald, Marie T., Gordon, Barbara, Saski, Christopher A., Jones, Julie R., Chapman, Shelley J., Stevenson, Roger E., Sleasman, John W., Friez, Michael J.
Pubblicato in Am J Med Genet A (2017)

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

di 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.
Pubblicazione 2010

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

di 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
Pubblicazione 2008

Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients

di Ensenauer, Regina E., Adeyinka, Adewale, Flynn, Heather C., Michels, Virginia V., Lindor, Noralane M., Dawson, D. Brian, Thorland, Erik C., Lorentz, Cindy Pham, Goldstein, Jennifer L., McDonald, Marie T., Smith, Wendy E., Simon-Fayard, Elba, Alexander, Alan A., Kulharya, Anita S., Ketterling, Rhett P., Clark, Robin D., Jalal, Syed M.
Pubblicazione 2003