PLXNA1 developmental encephalopathy with syndromic features: A case report and review of the literature

Por Park, Kaylee, Seltzer, Laurie E., Tuttle, Emily, Mirzaa, Ghayda M., Paciorkowski, Alex R.
Publicado no Am J Med Genet A (2017)

The Developmental Brain Disorders Database (DBDB): A Curated Neurogenetics Knowledge Base With Clinical and Research Applications

Por Mirzaa, Ghayda M., Millen, Kathleen J., Barkovich, A. James, Dobyns, William B., Paciorkowski, Alex R.
Publicado no Am J Med Genet A (2014)

Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development

Por Michels, Savannah, Foss, Kimberly, Park, Kaylee, Golden-Grant, Katie, Saneto, Russell, Lopez, Jonathan, Mirzaa, Ghayda M
Publicado no Am J Med Genet A (2017)

The Microcephaly-Capillary Malformation Syndrome

Por Mirzaa, Ghayda M., Paciorkowski, Alex R., Smyser, Christopher D., Willing, Marcia C., Lind, Anne C., Dobyns, William B.
Publicado em 2011

Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus

Por Ruggeri, Gaia, Timms, Andrew E., Cheng, Chi, Weiss, Avery, Kollros, Peter, Chapman, Teresa, Tully, Hannah, Mirzaa, Ghayda M.
Publicado no Am J Med Genet A (2018)

Institutional Protocol to Manage Consanguinity Detected by Genetic Testing in Pregnancy in a Minor

Por Chen, Laura P., Beck, Anita E., Tsuchiya, Karen D., Chow, Penny M., Mirzaa, Ghayda M., Wiester, Rebecca T., Feldman, Kenneth W.
Publicado no Pediatrics (2015)

Identification and characterisation of a novel constitutional PIK3CA mutation in a child lacking the typical segmental overgrowth of “PIK3CA-Related Overgrowth Spectrum” (PROS)

Por Di Donato, Nataliya, Rump, Andreas, Mirzaa, Ghayda M., Alcantara, Diana, Oliver, Antony, Schrock, Evelin, Dobyns, William B., O’Driscoll, Mark
Publicado no Hum Mutat (2015)

Expanding the Differential Diagnosis of Fetal Hydrops: An Unusual Prenatal Presentation of Megalencephaly-Capillary Malformation Syndrome

Por Swarr, Daniel T., Khalek, Nahla, Treat, James, Horton, Margaret A., Mirzaa, Ghayda M., Riviere, Jean-Baptiste, Dobyns, William B, Zackai, Elaine H.
Publicado em 2013

Lissencephaly: expanded imaging and clinical classification

Por Di Donato, Nataliya, Chiari, Sara, Mirzaa, Ghayda M., Aldinger, Kimberly, Parrini, Elena, Olds, Carissa, Barkovich, A. James, Guerrini, Renzo, Dobyns, William B.
Publicado no Am J Med Genet A (2017)

Expanding Clinical Phenotype in CACNA1C Related Disorders: From Neonatal Onset Severe Epileptic Encephalopathy to Late-onset Epilepsy

Por Bozarth, Xiuhua, Dines, Jennifer N., Cong, Qian, Mirzaa, Ghayda M., Foss, Kimberly, Merritt, J. Lawrence, Thies, Jenny, Mefford, Heather C., Novotny, Edward
Publicado no Am J Med Genet A (2018)

Mutations in CENPE define a novel kinetochore-centromeric mechanism for Microcephalic Primordial Dwarfism

Por Mirzaa, Ghayda M., Vitre, Benjamin, Carpenter, Gillian, Abramowicz, Iga, Gleeson, Joseph G., Paciorkowski, Alex R., Cleveland, Don W., Dobyns, William B., O’Driscoll, Mark
Publicado no Hum Genet (2014)

Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature

Por Mirzaa, Ghayda M., Enyedi, Laura, Parsons, Gretchen, Collins, Sarah, Medne, Livija, Adams, Carissa, Ward, Thomas, Davitt, Bradley, Bicknese, Alma, Zackai, Elaine, Toriello, Helga, Dobyns, William B., Christian, Susan
Publicado em 2014

Familial Recurrences of FOXG1-Related Disorder: Evidence for Mosaicism

Por McMahon, Kelly Q., Papandreou, Apostolos, Ma, Mandy, Barry, Brenda J., Mirzaa, Ghayda M., Dobyns, William B., Scott, Richard H., Trump, Natalie, Kurian, Manju A., Paciorkowski, Alex R.
Publicado no Am J Med Genet A (2015)

Characterization of a Severe Case of PIK3CA-related Overgrowth at Autopsy by Droplet Digital PCR and Report of PIK3CA Sequencing in 22 Patients

Por Piacitelli, Andrew M, Jensen, Dana M, Brandling-Bennett, Heather, Mariner Gray, Megan, Batra, Maneesh, Gust, Juliane, Thaker, Ameet, Paschal, Catherine, Tsuchiya, Karen, Pritchard, Colin C., Perkins, Jonathan, Mirzaa, Ghayda M, Bennett, James T
Publicado no Am J Med Genet A (2018)

CDKL5 and ARX mutations in males with early-onset epilepsy

Por Mirzaa, Ghayda M., Paciorkowski, Alex R., Marsh, Eric D., Berry-Kravis, Elizabeth M., Medne, Livija, Grix, Art, Wirrell, Elaine C., Powell, Berkley R., Nickels, Katherine C., Burton, Barbara, Paras, Andrea, Kim, Katherine, Chung, Wendy, Dobyns, William B., Das, Soma
Publicado em 2013

An Integrative Computational Approach for Prioritization of Genomic Variants

Por Dubchak, Inna, Balasubramanian, Sandhya, Wang, Sheng, Meyden, Cem, Sulakhe, Dinanath, Poliakov, Alexander, Börnigen, Daniela, Xie, Bingqing, Taylor, Andrew, Ma, Jianzhu, Paciorkowski, Alex R., Mirzaa, Ghayda M., Dave, Paul, Agam, Gady, Xu, Jinbo, Al-Gazali, Lihadh, Mason, Christopher E., Ross, M. Elizabeth, Maltsev, Natalia, Gilliam, T. Conrad
Publicado no PLoS One (2014)

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

Por Jansen, Laura A., Mirzaa, Ghayda M., Ishak, Gisele E., O'Roak, Brian J., Hiatt, Joseph B., Roden, William H., Gunter, Sonya A., Christian, Susan L., Collins, Sarah, Adams, Carissa, Rivière, Jean-Baptiste, St-Onge, Judith, Ojemann, Jeffrey G., Shendure, Jay, Hevner, Robert F., Dobyns, William B.
Publicado no Brain (2015)

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

Por Di Donato, Nataliya, Timms, Andrew E., Aldinger, Kimberly A., Mirzaa, Ghayda M., Bennett, James T., Collins, Sarah, Olds, Carissa, Mei, Davide, Chiari, Sara, Carvill, Gemma, Myers, Candace T., Rivière, Jean-Baptiste, Zaki, Maha S., Gleeson, Joseph G., Rump, Andreas, Conti, Valerio, Parrini, Elena, Ross, M. Elizabeth, Ledbetter, David H., Guerrini, Renzo, Dobyns, William B.
Publicado no Genet Med (2018)

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause Microcephaly-Capillary Malformation syndrome

Por McDonell, Laura M., Mirzaa, Ghayda M., Alcantara, Diana, Schwartzentruber, Jeremy, Carter, Melissa T., Lee, Leo J., Clericuzio, Carol L., Graham, John M., Morris-Rosendahl, Deborah J., Polster, Tilman, Acsadi, Gyula, Townshend, Sharron, Williams, Simon, Halbert, Anne, Isidor, Bertrand, Smyser, Christopher D., Paciorkowski, Alex R., Willing, Marcia, Woulfe, John, Das, Soma, Beaulieu, Chandree L., Marcadier, Janet, Geraghty, Michael T., Frey, Brendan J., Majewski, Jacek, Bulman, Dennis E., Dobyns, William B., O’Driscoll, Mark, Boycott, Kym M.
Publicado em 2013

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

Por Di Donato, Nataliya, Jean, Ying Y., Maga, A. Murat, Krewson, Briana D., Shupp, Alison B., Avrutsky, Maria I., Roy, Achira, Collins, Sarah, Olds, Carissa, Willert, Rebecca A., Czaja, Agnieszka M., Johnson, Rachel, Stover, Jessi A., Gottlieb, Steven, Bartholdi, Deborah, Rauch, Anita, Goldstein, Amy, Boyd-Kyle, Victoria, Aldinger, Kimberly A., Mirzaa, Ghayda M., Nissen, Anke, Brigatti, Karlla W., Puffenberger, Erik G., Millen, Kathleen J., Strauss, Kevin A., Dobyns, William B., Troy, Carol M., Jinks, Robert N.
Publicado no Am J Hum Genet (2016)