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)

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

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

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)

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)

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)

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Por Rivière, Jean-Baptiste, Mirzaa, Ghayda M., O’Roak, Brian J., Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L., St-Onge, Judith, Schwartzentruber, Jeremy A., Gripp, Karen W., Nikkel, Sarah M., Worthylake, Thea, Sullivan, Christopher T., Ward, Thomas R., Butler, Hailly E., Kramer, Nancy A., Albrecht, Beate, Armour, Christine M., Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A., Innes, A. Micheil, Lauzon, Julie L., Lin, Angela E., Mancini, Grazia M. S., Meschino, Wendy S., Reggin, James D., Saggar, Anand K., Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Shendure, Jay, Graham, John M., Boycott, Kym M., Dobyns, William B.
Publicado em 2012

Wide spectrum of developmental brain disorders from megalencephaly to focal cortical dysplasia and pigmentary mosaicism caused by mutations of MTOR

Por Mirzaa, Ghayda M., Campbell, Catarina D., Solovieff, Nadia, Goold, Carleton, Jansen, Laura A., Menon, Suchithra, Timms, Andrew E., Conti, Valerio, Biag, Jonathan D., Adams, Carissa, Boyle, Evan August, Collins, Sarah, Ishak, Gisele, Poliachik, Sandra, Girisha, Katta M., Yeung, Kit San, Chung, Brian Hon Yin, Rahikkala, Elisa, Gunter, Sonya A., McDaniel, Sharon S., Macmurdo, Colleen Forsyth, Bernstein, Jonathan A., Martin, Beth, Leary, Rebecca, Mahan, Scott, Liu, Shanming, Weaver, Molly, Doerschner, Michael, Jhangiani, Shalini, Muzny, Donna M., Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R., Shendure, Jay, Saneto, Russell P., Novotny, Edward J., Wilson, Christopher J., Sellers, William R., Morrissey, Michael, Hevner, Robert F., Ojemann, Jeffrey G., Guerrini, Renzo, Murphy, Leon O., Winckler, Wendy, Dobyns, William B.
Publicado no JAMA Neurol (2016)