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1.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Lee, Sangmoon; Chen, Dillon Y; Zaki, Maha S; Maroofian, Reza; Houlden, Henry; Di Donato, Nataliya; Abdin, Dalia; Morsy, Heba; Mirzaa, Ghayda M; Dobyns, William B; McEvoy-Venneri, Jennifer; Stanley, Valentina; James, Kiely N; Mancini, Grazia M S; Schot, Rachel; Kalayci, Tugba; Altunoglu, Umut; Karimiani, Ehsan Ghayoor; Brick, Lauren; Kozenko, Mariya; Jamshidi, Yalda; Manzini, M Chiara; Beiraghi Toosi, Mehran; Gleeson, Joseph G.

Am J Hum Genet; 105(4): 844-853, 2019 Oct 03.

Artigo em Inglês | MEDLINE | ID: mdl-31585108

2.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini, Pamela; Smits, Daphne J; Vandervore, Laura; Schot, Rachel; Columbaro, Marta; Kasteleijn, Esmee; van der Ent, Mees; Palombo, Flavia; Lequin, Maarten H; Dremmen, Marjolein; de Wit, Marie Claire Y; Severino, Mariasavina; Divizia, Maria Teresa; Striano, Pasquale; Ordonez-Herrera, Natalia; Alhashem, Amal; Al Fares, Ahmed; Al Ghamdi, Malak; Rolfs, Arndt; Bauer, Peter; Demmers, Jeroen; Verheijen, Frans W; Wilke, Martina; van Slegtenhorst, Marjon; van der Spek, Peter J; Seri, Marco; Jansen, Anna C; Stottmann, Rolf W; Hufnagel, Robert B; Hopkin, Robert J; Aljeaid, Deema; Wiszniewski, Wojciech; Gawlinski, Pawel; Laure-Kamionowska, Milena; Alkuraya, Fowzan S; Akleh, Hanah; Stanley, Valentina; Musaev, Damir; Gleeson, Joseph G; Zaki, Maha S; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Davidov, Bella; Basel-Salmon, Lina; Bazak, Lily; Shahar, Noa Ruhrman; Bertoli-Avella, Aida; Mirzaa, Ghayda M; Dobyns, William B; Pippucci, Tommaso.

Am J Hum Genet; 105(4): 689-705, 2019 Oct 03.

Artigo em Inglês | MEDLINE | ID: mdl-31495489

3.

Redefining the Etiologic Landscape of Cerebellar Malformations.

Aldinger, Kimberly A; Timms, Andrew E; Thomson, Zachary; Mirzaa, Ghayda M; Bennett, James T; Rosenberg, Alexander B; Roco, Charles M; Hirano, Matthew; Abidi, Fatima; Haldipur, Parthiv; Cheng, Chi V; Collins, Sarah; Park, Kaylee; Zeiger, Jordan; Overmann, Lynne M; Alkuraya, Fowzan S; Biesecker, Leslie G; Braddock, Stephen R; Cathey, Sara; Cho, Megan T; Chung, Brian H Y; Everman, David B; Zarate, Yuri A; Jones, Julie R; Schwartz, Charles E; Goldstein, Amy; Hopkin, Robert J; Krantz, Ian D; Ladda, Roger L; Leppig, Kathleen A; McGillivray, Barbara C; Sell, Susan; Wusik, Katherine; Gleeson, Joseph G; Nickerson, Deborah A; Bamshad, Michael J; Gerrelli, Dianne; Lisgo, Steven N; Seelig, Georg; Ishak, Gisele E; Barkovich, A James; Curry, Cynthia J; Glass, Ian A; Millen, Kathleen J; Doherty, Dan; Dobyns, William B.

Am J Hum Genet; 105(3): 606-615, 2019 Sep 05.

Artigo em Inglês | MEDLINE | ID: mdl-31474318

4.

MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.

Dobyns, William B; Aldinger, Kimberly A; Ishak, Gisele E; Mirzaa, Ghayda M; Timms, Andrew E; Grout, Megan E; Dremmen, Marjolein H G; Schot, Rachel; Vandervore, Laura; van Slegtenhorst, Marjon A; Wilke, Martina; Kasteleijn, Esmee; Lee, Arthur S; Barry, Brenda J; Chao, Katherine R; Szczaluba, Krzysztof; Kobori, Joyce; Hanson-Kahn, Andrea; Bernstein, Jonathan A; Carr, Lucinda; D'Arco, Felice; Miyana, Kaori; Okazaki, Tetsuya; Saito, Yoshiaki; Sasaki, Masayuki; Das, Soma; Wheeler, Marsha M; Bamshad, Michael J; Nickerson, Deborah A; Engle, Elizabeth C; Verheijen, Frans W; Doherty, Dan; Mancini, Grazia M S.

Am J Hum Genet; 103(6): 1009-1021, 2018 12 06.

Artigo em Inglês | MEDLINE | ID: mdl-30471716

5.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Martinelli, Simone; Krumbach, Oliver H F; Pantaleoni, Francesca; Coppola, Simona; Amin, Ehsan; Pannone, Luca; Nouri, Kazem; Farina, Luciapia; Dvorsky, Radovan; Lepri, Francesca; Buchholzer, Marcel; Konopatzki, Raphael; Walsh, Laurence; Payne, Katelyn; Pierpont, Mary Ella; Vergano, Samantha Schrier; Langley, Katherine G; Larsen, Douglas; Farwell, Kelly D; Tang, Sha; Mroske, Cameron; Gallotta, Ivan; Di Schiavi, Elia; Della Monica, Matteo; Lugli, Licia; Rossi, Cesare; Seri, Marco; Cocchi, Guido; Henderson, Lindsay; Baskin, Berivan; Alders, Mariëlle; Mendoza-Londono, Roberto; Dupuis, Lucie; Nickerson, Deborah A; Chong, Jessica X; Meeks, Naomi; Brown, Kathleen; Causey, Tahnee; Cho, Megan T; Demuth, Stephanie; Digilio, Maria Cristina; Gelb, Bruce D; Bamshad, Michael J; Zenker, Martin; Ahmadian, Mohammad Reza; Hennekam, Raoul C; Tartaglia, Marco; Mirzaa, Ghayda M.

Am J Hum Genet; 102(2): 309-320, 2018 02 01.

Artigo em Inglês | MEDLINE | ID: mdl-29394990

6.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Schanze, Ina; Bunt, Jens; Lim, Jonathan W C; Schanze, Denny; Dean, Ryan J; Alders, Marielle; Blanchet, Patricia; Attié-Bitach, Tania; Berland, Siren; Boogert, Steven; Boppudi, Sangamitra; Bridges, Caitlin J; Cho, Megan T; Dobyns, William B; Donnai, Dian; Douglas, Jessica; Earl, Dawn L; Edwards, Timothy J; Faivre, Laurence; Fregeau, Brieana; Genevieve, David; Gérard, Marion; Gatinois, Vincent; Holder-Espinasse, Muriel; Huth, Samuel F; Izumi, Kosuke; Kerr, Bronwyn; Lacaze, Elodie; Lakeman, Phillis; Mahida, Sonal; Mirzaa, Ghayda M; Morgan, Sian M; Nowak, Catherine; Peeters, Hilde; Petit, Florence; Pilz, Daniela T; Puechberty, Jacques; Reinstein, Eyal; Rivière, Jean-Baptiste; Santani, Avni B; Schneider, Anouck; Sherr, Elliott H; Smith-Hicks, Constance; Wieland, Ilse; Zackai, Elaine; Zhao, Xiaonan; Gronostajski, Richard M; Zenker, Martin; Richards, Linda J.

Am J Hum Genet; 103(5): 752-768, 2018 11 01.

Artigo em Inglês | MEDLINE | ID: mdl-30388402

7.

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.

Horn, Susanne; Au, Margaret; Basel-Salmon, Lina; Bayrak-Toydemir, Pinar; Chapin, Alexander; Cohen, Lior; Elting, Mariet W; Graham, John M; Gonzaga-Jauregui, Claudia; Konen, Osnat; Holzer, Max; Lemke, Johannes; Miller, Christine E; Rey, Linda K; Wolf, Nicole I; Weiss, Marjan M; Waisfisz, Quinten; Mirzaa, Ghayda M; Wieczorek, Dagmar; Sticht, Heinrich; Abou Jamra, Rami.

Brain; 142(11): 3351-3359, 2019 Nov 01.

Artigo em Inglês | MEDLINE | ID: mdl-31504246

8.

Megalencephaly syndromes associated with mutations of core components of the PI3K-AKT-MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.

Dobyns, William B; Mirzaa, Ghayda M.

Am J Med Genet C Semin Med Genet; 181(4): 582-590, 2019 12.

Artigo em Inglês | MEDLINE | ID: mdl-31441589

9.

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

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.

Am J Hum Genet; 99(5): 1117-1129, 2016 Nov 03.

Artigo em Inglês | MEDLINE | ID: mdl-27773430

10.

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Blackburn, Alexandria T M; Bekheirnia, Nasim; Uma, Vanessa C; Corkins, Mark E; Xu, Yuxiao; Rosenfeld, Jill A; Bainbridge, Matthew N; Yang, Yaping; Liu, Pengfei; Madan-Khetarpal, Suneeta; Delgado, Mauricio R; Hudgins, Louanne; Krantz, Ian; Rodriguez-Buritica, David; Wheeler, Patricia G; Al-Gazali, Lihadh; Mohamed Saeed Mohamed Al Shamsi, Aisha; Gomez-Ospina, Natalia; Chao, Hsiao-Tuan; Mirzaa, Ghayda M; Scheuerle, Angela E; Kukolich, Mary K; Scaglia, Fernando; Eng, Christine; Willsey, Helen Rankin; Braun, Michael C; Lamb, Dolores J; Miller, Rachel K; Bekheirnia, Mir Reza.

Genet Med; 21(12): 2755-2764, 2019 12.

Artigo em Inglês | MEDLINE | ID: mdl-31263215

11.

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Blackburn, Alexandria T M; Bekheirnia, Nasim; Uma, Vanessa C; Corkins, Mark E; Xu, Yuxiao; Rosenfeld, Jill A; Bainbridge, Matthew N; Yang, Yaping; Liu, Pengfei; Madan-Khetarpal, Suneeta; Delgado, Mauricio R; Hudgins, Louanne; Krantz, Ian; Rodriguez-Buritica, David; Wheeler, Patricia G; Al-Gazali, Lihadh; Shamsi, Aisha Mohamed Saeed Mohamed Al; Gomez-Ospina, Natalia; Chao, Hsiao-Tuan; Mirzaa, Ghayda M; Scheuerle, Angela E; Kukolich, Mary K; Scaglia, Fernando; Eng, Christine; Willsey, Helen Rankin; Braun, Michael C; Lamb, Dolores J; Miller, Rachel K; Bekheirnia, Mir Reza.

Genet Med; 2019 Dec 20.

Artigo em Inglês | MEDLINE | ID: mdl-31857706

12.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Mirzaa, Ghayda M; Chong, Jessica X; Piton, Amélie; Popp, Bernt; Foss, Kimberly; Guo, Hui; Harripaul, Ricardo; Xia, Kun; Scheck, Joshua; Aldinger, Kimberly A; Sajan, Samin A; Tang, Sha; Bonneau, Dominique; Beck, Anita; White, Janson; Mahida, Sonal; Harris, Jacqueline; Smith-Hicks, Constance; Hoyer, Juliane; Zweier, Christiane; Reis, André; Thiel, Christian T; Jamra, Rami Abou; Zeid, Natasha; Yang, Amy; Farach, Laura S; Walsh, Laurence; Payne, Katelyn; Rohena, Luis; Velinov, Milen; Ziegler, Alban; Schaefer, Elise; Gatinois, Vincent; Geneviève, David; Simon, Marleen E H; Kohler, Jennefer; Rotenberg, Joshua; Wheeler, Patricia; Larson, Austin; Ernst, Michelle E; Akman, Cigdem I; Westman, Rachel; Blanchet, Patricia; Schillaci, Lori-Anne; Vincent-Delorme, Catherine; Gripp, Karen W; Mattioli, Francesca; Guyader, Gwenaël Le; Gerard, Bénédicte; Mathieu-Dramard, Michèle.

Genet Med; 2019 Nov 14.

Artigo em Inglês | MEDLINE | ID: mdl-31723249

13.

De novo mutations in GRIN1 cause extensive bilateral polymicrogyria.

Fry, Andrew E; Fawcett, Katherine A; Zelnik, Nathanel; Yuan, Hongjie; Thompson, Belinda A N; Shemer-Meiri, Lilach; Cushion, Thomas D; Mugalaasi, Hood; Sims, David; Stoodley, Neil; Chung, Seo-Kyung; Rees, Mark I; Patel, Chirag V; Brueton, Louise A; Layet, Valérie; Giuliano, Fabienne; Kerr, Michael P; Banne, Ehud; Meiner, Vardiella; Lerman-Sagie, Tally; Helbig, Katherine L; Kofman, Laura H; Knight, Kristin M; Chen, Wenjuan; Kannan, Varun; Hu, Chun; Kusumoto, Hirofumi; Zhang, Jin; Swanger, Sharon A; Shaulsky, Gil H; Mirzaa, Ghayda M; Muir, Alison M; Mefford, Heather C; Dobyns, William B; Mackenzie, Amanda B; Mullins, Jonathan G L; Lemke, Johannes R; Bahi-Buisson, Nadia; Traynelis, Stephen F; Iago, Heledd F; Pilz, Daniela T.

Brain; 141(3): 698-712, 2018 03 01.

Artigo em Inglês | MEDLINE | ID: mdl-29365063

14.

Further delineation of Malan syndrome.

Priolo, Manuela; Schanze, Denny; Tatton-Brown, Katrin; Mulder, Paul A; Tenorio, Jair; Kooblall, Kreepa; Acero, Inés Hernández; Alkuraya, Fowzan S; Arias, Pedro; Bernardini, Laura; Bijlsma, Emilia K; Cole, Trevor; Coubes, Christine; Dapia, Irene; Davies, Sally; Di Donato, Nataliya; Elcioglu, Nursel H; Fahrner, Jill A; Foster, Alison; González, Noelia García; Huber, Ilka; Iascone, Maria; Kaiser, Ann-Sophie; Kamath, Arveen; Liebelt, Jan; Lynch, Sally Ann; Maas, Saskia M; Mammì, Corrado; Mathijssen, Inge B; McKee, Shane; Menke, Leonie A; Mirzaa, Ghayda M; Montgomery, Tara; Neubauer, Dorothee; Neumann, Thomas E; Pintomalli, Letizia; Pisanti, Maria Antonietta; Plomp, Astrid S; Price, Sue; Salter, Claire; Santos-Simarro, Fernando; Sarda, Pierre; Segovia, Mabel; Shaw-Smith, Charles; Smithson, Sarah; Suri, Mohnish; Valdez, Rita Maria; Van Haeringen, Arie; Van Hagen, Johanna M; Zollino, Marcela.

Hum Mutat; 39(9): 1226-1237, 2018 09.

Artigo em Inglês | MEDLINE | ID: mdl-29897170

15.

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

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.

Genet Med; 20(11): 1354-1364, 2018 11.

Artigo em Inglês | MEDLINE | ID: mdl-29671837

16.

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

Ruggeri, Gaia; Timms, Andrew E; Cheng, Chi; Weiss, Avery; Kollros, Peter; Chapman, Teresa; Tully, Hannah; Mirzaa, Ghayda M.

Am J Med Genet A; 176(3): 676-681, 2018 03.

Artigo em Inglês | MEDLINE | ID: mdl-29341397

17.

Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.

Bozarth, Xiuhua; Dines, Jennifer N; Cong, Qian; Mirzaa, Ghayda M; Foss, Kimberly; Lawrence Merritt, J; Thies, Jenny; Mefford, Heather C; Novotny, Edward.

Am J Med Genet A; 176(12): 2733-2739, 2018 12.

Artigo em Inglês | MEDLINE | ID: mdl-30513141

18.

Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients.

Piacitelli, Andrew M; Jensen, Dana M; Brandling-Bennett, Heather; Gray, Megan Mariner; Batra, Maneesh; Gust, Juliane; Thaker, Ameet; Paschal, Catherine; Tsuchiya, Karen; Pritchard, Colin C; Perkins, Jonathan; Mirzaa, Ghayda M; Bennett, James T.

Am J Med Genet A; 176(11): 2301-2308, 2018 11.

Artigo em Inglês | MEDLINE | ID: mdl-30063105

19.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

Alcantara, Diana; Timms, Andrew E; Gripp, Karen; Baker, Laura; Park, Kaylee; Collins, Sarah; Cheng, Chi; Stewart, Fiona; Mehta, Sarju G; Saggar, Anand; Sztriha, László; Zombor, Melinda; Caluseriu, Oana; Mesterman, Ronit; Van Allen, Margot I; Jacquinet, Adeline; Ygberg, Sofia; Bernstein, Jonathan A; Wenger, Aaron M; Guturu, Harendra; Bejerano, Gill; Gomez-Ospina, Natalia; Lehman, Anna; Alfei, Enrico; Pantaleoni, Chiara; Conti, Valerio; Guerrini, Renzo; Moog, Ute; Graham, John M; Hevner, Robert; Dobyns, William B; O'Driscoll, Mark; Mirzaa, Ghayda M.

Brain; 140(10): 2610-2622, 2017 Oct 01.

Artigo em Inglês | MEDLINE | ID: mdl-28969385

20.

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

Park, Kaylee; Seltzer, Laurie E; Tuttle, Emily; Mirzaa, Ghayda M; Paciorkowski, Alex R.

Am J Med Genet A; 173(7): 1951-1954, 2017 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-28464511

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