Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia von D'Gama, Alissa M., Geng, Ying, Couto, Javier A., Martin, Beth, Boyle, Evan A., LaCoursiere, Christopher M., Hossain, Amer, Hatem, Nicole E., Barry, Brenda J., Kwiatkowski, David J., Vinters, Harry V., Barkovich, A. James, Shendure, Jay, Mathern, Gary W., Walsh, Christopher A., Poduri, Annapurna

Volltext

TUBB3 and KIF21A in neurodevelopment and disease von Puri, Dharmendra, Barry, Brenda J, Engle, Elizabeth C

Volltext

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations von Poduri, Annapurna, Evrony, Gilad D., Cai, Xuyu, Elhosary, Princess Christina, Beroukhim, Rameen, Lehtinen, Maria K., Hills, L. Benjamin, Heinzen, Erin L., Hill, Anthony, Hill, R. Sean, Barry, Brenda J., Bourgeois, Blaise F.D., Riviello, James J., Barkovich, A. James, Black, Peter M., Ligon, Keith L., Walsh, Christopher A.

Volltext

Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly von Alkuraya, Fowzan S., Cai, Xuyu, Emery, Carina, Mochida, Ganeshwaran H., Al-Dosari, Mohammed S., Felie, Jillian M., Hill, R. Sean, Barry, Brenda J., Partlow, Jennifer N., Gascon, Generoso G., Kentab, Amal, Jan, Mohammad, Shaheen, Ranad, Feng, Yuanyi, Walsh, Christopher A.

Volltext

Deficient activity of alanyl‐tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy von Nakayama, Tojo, Wu, Jiang, Galvin‐Parton, Patricia, Weiss, Jody, Andriola, Mary R., Hill, R. Sean, Vaughan, Dylan J., El‐Quessny, Malak, Barry, Brenda J., Partlow, Jennifer N., Barkovich, A. James, Ling, Jiqiang, Mochida, Ganeshwaran H.

Volltext

Microcephaly Gene Links Trithorax and REST/NRSF to Control Neural Stem Cell Proliferation and Differentiation von Yang, Yawei J., Baltus, Andrew E., Mathew, Rebecca S., Murphy, Elisabeth A., Evrony, Gilad D., Gonzalez, Dilenny M., Wang, Estee P., Marshall-Walker, Christine A., Barry, Brenda J., Murn, Jernej, Tatarakis, Antonis, Mahajan, Muktar A., Samuels, Herbert H., Shi, Yang, Golden, Jeffrey A., Mahajnah, Muhammad, Shenhav, Ruthie, Walsh, Christopher A.

Volltext

Cerebral Vein Malformations Result from Loss of Twist1 Expression and BMP Signaling from Skull Progenitor Cells and Dura von Tischfield, Max A., Robson, Caroline D., Gilette, Nicole M., Chim, Shek Man, Sofela, Folasade A., DeLisle, Michelle M., Gelber, Alon, Barry, Brenda J., MacKinnon, Sarah, Dagi, Linda R., Nathans, Jeremy, Engle, Elizabeth C.

Volltext

Mutations in WDR62 , encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture von Walsh, Christopher A, 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 M, Sunu, Christine, Dobyns, William B, Folkerth, Rebecca D, Barkovich, A James

Volltext

Developmental and degenerative features in a complicated spastic paraplegia von Manzini, M. Chiara, Rajab, Anna, Maynard, Thomas M., Mochida, Ganeshwaran H., Tan, Wen-Hann, Nasir, Ramzi, Hill, R. Sean, Gleason, Danielle, Al Saffar, Muna, Partlow, Jennifer N., Barry, Brenda J., Vernon, Mike, LaMantia, Anthony-Samuel, Walsh, Christopher A.

Volltext

A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder von Lecoquierre, François, Punt, A. Mattijs, Ebstein, Frédéric, Wallaard, Ilse, Verhagen, Rob, Studencka-Turski, Maja, Duffourd, Yannis, Moutton, Sébastien, Tran Mau-Them, Frédédic, Philippe, Christophe, Dean, John, Tennant, Stephen, Brooks, Alice S., van Slegtenhorst, Marjon A., Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, England, Eleina M., Martinez Ojeda, Mayra, Engle, Elizabeth C., Robson, Caroline D., Morrow, Michelle, Innes, A. Micheil, Lamont, Ryan, Sanderson, Matthea, Krüger, Elke, Thauvin, Christel, Distel, Ben, Faivre, Laurence, Elgersma, Ype, Vitobello, Antonio

Volltext

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders von Lee, Arthur S., Ayers, Lauren J., Kosicki, Michael, Chan, Wai-Man, Fozo, Lydia N., Pratt, Brandon M., Collins, Thomas E., Zhao, Boxun, Rose, Matthew F., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Tenney, Alan P., Lee, Cassia, Laricchia, Kristen M., Barry, Brenda J., Bradford, Victoria R., Jurgens, Julie A., England, Eleina M., Lek, Monkol, MacArthur, Daniel G., Lee, Eunjung Alice, Talkowski, Michael E., Brand, Harrison, Pennacchio, Len A., Engle, Elizabeth C.

Volltext

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures von Zhang, Xiaochang, Ling, Jiqiang, Barcia, Giulia, Jing, Lili, Wu, Jiang, Barry, Brenda J., Mochida, Ganeshwaran H., Hill, R. Sean, Weimer, Jill M., Stein, Quinn, Poduri, Annapurna, Partlow, Jennifer N., Ville, Dorothée, Dulac, Olivier, Yu, Tim W., Lam, Anh-Thu N., Servattalab, Sarah, Rodriguez, Jacqueline, Boddaert, Nathalie, Munnich, Arnold, Colleaux, Laurence, Zon, Leonard I., Söll, Dieter, Walsh, Christopher A., Nabbout, Rima

Volltext

Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development von Jurgens, Julie A., Barry, Brenda J., Lemire, Gabrielle, Chan, Wai-Man, Whitman, Mary C., Shaaban, Sherin, Robson, Caroline D., MacKinnon, Sarah, England, Eleina M., McMillan, Hugh J., Kelly, Christopher, Pratt, Brandon M., O'Donnell-Luria, Anne, MacArthur, Daniel G., Boycott, Kym M., Hunter, David G., Engle, Elizabeth C.

Volltext

Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles von Heidary, Gena, Mackinnon, Sarah, Elliott, Alexandra, Barry, Brenda J., Engle, Elizabeth C., Hunter, David G.

Volltext

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome von Manzini, M. Chiara, Tambunan, Dimira E., Hill, R. Sean, Yu, Tim W., Maynard, Thomas M., Heinzen, Erin L., Shianna, Kevin V., Stevens, Christine R., Partlow, Jennifer N., Barry, Brenda J., Rodriguez, Jacqueline, Gupta, Vandana A., Al-Qudah, Abdel-Karim, Eyaid, Wafaa M., Friedman, Jan M., Salih, Mustafa A., Clark, Robin, Moroni, Isabella, Mora, Marina, Beggs, Alan H., Gabriel, Stacey B., Walsh, Christopher A.

Volltext

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder von Natera‐de Benito, Daniel, Jurgens, Julie A., Yeung, Alison, Zaharieva, Irina T., Manzur, Adnan, DiTroia, Stephanie P., Di Gioia, Silvio Alessandro, Pais, Lynn, Pini, Veronica, Barry, Brenda J., Chan, Wai‐Man, Elder, James E., Christodoulou, John, Hay, Eleanor, England, Eleina M., Munot, Pinki, Hunter, David G., Feng, Lucy, Ledoux, Danielle, O'Donnell‐Luria, Anne, Phadke, Rahul, Engle, Elizabeth C., Sarkozy, Anna, Muntoni, Francesco

Volltext

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis von Poduri, Annapurna, Chitsazzadeh, Vida, D’Arrigo, Stefano, Fedrizzi, Ermellina, Pantaleoni, Chiara, Riva, Daria, Busse, Claudia, Küster, Helmut, Duplessis, Adre, Gaitanis, John, Sahin, Mustafa, Garganta, Cheryl, Topcu, Meral, Dies, Kira A, Barry, Brenda J, Partlow, Jennifer, Barkovich, A. James, Walsh, Christopher A, Chang, Bernard S

Volltext

PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features von Khalil, Raida, Kenny, Connor, Hill, R. Sean, Mochida, Ganeshwaran H., Nasir, Ramzi, Partlow, Jennifer N., Barry, Brenda J., Al‐Saffar, Muna, Egan, Chloe, Stevens, Christine R., Gabriel, Stacey B., Barkovich, A. James, Ellison, Jay W., Al‐Gazali, Lihadh, Walsh, Christopher A., Chahrour, Maria H.

Volltext

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development von Mochida, Ganeshwaran H, Ganesh, Vijay S, de Michelena, Maria I, Dias, Hugo, Atabay, Kutay D, Kathrein, Katie L, Huang, Hsuan-Ting, Hill, R Sean, Felie, Jillian M, Rakiec, Daniel, Gleason, Danielle, Hill, Anthony D, Malik, Athar N, Barry, Brenda J, Partlow, Jennifer N, Tan, Wen-Hann, Glader, Laurie J, Barkovich, A James, Dobyns, William B, Zon, Leonard I, Walsh, Christopher A

Volltext

Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans von Whitman, Mary C, Miyake, Noriko, Nguyen, Elaine H, Bell, Jessica L, Matos Ruiz, Paola M, Chan, Wai-Man, Di Gioia, Silvio Alessandro, Mukherjee, Nisha, Barry, Brenda J, Bosley, T M, Khan, Arif O, Engle, Elizabeth C

Volltext