Not logged in Diverse Genetic Etiologies of Unilateral Polymicrogyria Abbe Lai CGC; Jennifer E. Neil CGC; Shyam K. Akula MD, PhD; Dina Amrom MD; Eva Andermann MD, PhD; Ann Bergin MD, ScM, MRCP; Roberto Caraballo MD; Allen Y. Chen MD, PhD; John Gaitanis MD; Ganeshwaran H. Mochida MD, MMSc, PhD; Jill M. Gotoff MD; Giorgi Kuchukhidze MD, PhD; Daphna Marom MD; Christelle Moufawad ElAchkar MD; Miriam Regev MD, MBBS; Lance H. Rodan MD; Heather Olson MD; Bo Zhang PhD; Annapurna Poduri MPH, MD; Diane D. Shao MD, PhD; Christopher A. Walsh MD, PhD; Edward Yang MD, PhD Share Save
Spatial transcriptomics reveals human cortical layer and area specification Qian, Xuyu; Coleman, Kyle; Jiang, Shunzhou; Kriz, Andrea J.; Marciano, Jack H.; Luo, Chunyu; Cai, Chunhui; Manam, Monica Devi; Caglayan, Emre; Lai, Abbe; Exposito-Alonso, David; Otani, Aoi; Ghosh, Urmi; Shao, Diane D.; Andersen, Rebecca E.; Neil, Jennifer E.; Johnson, Robert; LeFevre, Alexandra; Hecht, Jonathan L.; Micali, Nicola; Sestan, Nenad; Rakic, Pasko; Miller, Michael B.; Sun, Liang; Stringer, Carsen; Li, Mingyao; Walsh, Christopher A. Share Save
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature van Jaarsveld, Richard H.; Reilly, Jack; Cornips, Marie-Claire; Hadders, Michael A.; Agolini, Emanuele; Ahimaz, Priyanka; Anyane-Yeboa, Kwame; Bellanger, Severine Audebert; van Binsbergen, Ellen; van den Boogaard, Marie-Jose; Brischoux-Boucher, Elise; Caylor, Raymond C.; Ciolfi, Andrea; van Essen, Ton A. J.; Fontana, Paolo; Hopman, Saskia; Iascone, Maria; Javier, Margaret M.; Kamsteeg, Erik-Jan; Kerkhof, Jennifer; Kido, Jun; Kim, Hyung-Goo; Kleefstra, Tjitske; Lonardo, Fortunato; Lai, Abbe; Lev, Dorit; Levy, Michael A.; Lewis, M. E. Suzanne; Lichty, Angie; Mannens, Marcel M. A. M.; Matsumoto, Naomichi; Maya, Idit; McConkey, Haley; Megarbane, Andre; Michaud, Vincent; Miele, Evelina; Niceta, Marcello; Novelli, Antonio; Onesimo, Roberta; Pfundt, Rolph; Popp, Bernt; Prijoles, Eloise; Relator, Raissa; Redon, Sylvia; Rots, Dmitrijs; Rouault, Karen; Saida, Ken; Schieving, Jolanda; Tartaglia, Marco; Tenconi, Romano; Uguen, Kevin; Verbeek, Nienke; Walsh, Christopher A.; Yosovich, Keren; Yuskaitis, Christopher J.; Zampino, Giuseppe; Sadikovic, Bekim; Alders, Marielle; Oegema, Renske Share Save
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2 Lai, Abbe; Soucy, Aubrie; El Achkar, Christelle Moufawad; Barkovich, Anthony J.; Cao, Yang; DiStefano, Marina; Evenson, Michael; Guerrini, Renzo; Knight, Devon; Lee, Yi-Shan; Mefford, Heather C.; Miller, David T.; Mirzaa, Ghayda; Mochida, Ganesh; Rodan, Lance H.; Patel, Mayher; Smith, Lacey; Spencer, Sara; Walsh, Christopher A.; Yang, Edward; Yuskaitis, Christopher J.; Yu, Timothy; Poduri, Annapurna Share Save
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis Qian, Xuyu; DeGennaro, Ellen M.; Talukdar, Maya; Akula, Shyam K.; Lai, Abbe; Shao, Diane D.; Gonzalez, Dilenny; Marciano, Jack H.; Smith, Richard S.; Hylton, Norma K.; Yang, Edward; Bazan, J. Fernando; Barrett, Lee; Yeh, Rebecca C.; Hill, R. Sean; Beck, Samantha G.; Otani, Aoi; Angad, Jolly; Mitani, Tadahiro; Posey, Jennifer E.; Pehlivan, Davut; Calame, Daniel; Aydin, Hatip; Yesilbas, Osman; Parks, Kendall C.; Argilli, Emanuela; England, Eleina; Im, Kiho; Taranath, Ajay; Scott, Hamish S.; Barnett, Christopher P.; Arts, Peer; Sherr, Elliott H.; Lupski, James R.; Walsh, Christopher A. Share Save
Mendelian etiologies identified with whole exome sequencing in cerebral palsy Chopra, Maya; Gable, Dustin L.; Love-Nichols, Jamie; Tsao, Alexa; Rockowitz, Shira; Sliz, Piotr; Barkoudah, Elizabeth; Bastianelli, Lucia; Coulter, David; Davidson, Emily; DeGusmao, Claudio; Fogelman, David; Huth, Kathleen; Marshall, Paige; Nimec, Donna; Sanders, Jessica Solomon; Shore, Benjamin J.; Snyder, Brian; Stone, Scellig S. D.; Ubeda, Ana; Watkins, Colyn; Berde, Charles; Bolton, Jeffrey; Brownstein, Catherine; Costigan, Michael; Ebrahimi-Fakhari, Darius; Lai, Abbe; O'Donnell-Luria, Anne; Paciorkowski, Alex R.; Pinto, Anna; Pugh, John; Rodan, Lance; Roe, Eugene; Swanson, Lindsay; Zhang, Bo; Kruer, Michael C.; Sahin, Mustafa; Poduri, Annapurna; Srivastava, Siddharth Share Save
Polymicrogyria is Associated With Pathogenic Variants inPTEN Shao, Diane D.; Achkar, Christelle M.; Lai, Abbe; Srivastava, Siddharth; Doan, Ryan N.; Rodan, Lance H.; Chen, Allen Y.; Poduri, Annapurna; Yang, Edward; Walsh, Christopher A. Share Save
Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5 Kodani, Andrew; Kenny, Connor; Lai, Abbe; Gonzalez, Dilenny M.; Stronge, Edward; Sejourne, Gabrielle M.; Isacco, Laura; Partlow, Jennifer N.; O'Donnell, Anne; McWalter, Kirsty; Byrne, Alicia B.; Barkovich, A. James; Yang, Edward; Hill, R. Sean; Gawlinski, Pawel; Wiszniewski, Wojciech; Cohen, Julie S.; Fatemi, S. Ali; Baranano, Kristin W.; Sahin, Mustafa; Vossler, David G.; Yuskaitis, Christopher J.; Walsh, Christopher A. Share Save
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features Ansar, Muhammad; Ullah, Farid; Paracha, Sohail A.; Adams, Darius J.; Lai, Abbe; Pais, Lynn; Iwaszkiewicz, Justyna; Millan, Francisca; Sarwar, Muhammad T.; Agha, Zehra; Shah, Sayyed Fahim; Qaisar, Azhar Ali; Falconnet, Emilie; Zoete, Vincent; Ranza, Emmanuelle; Makrythanasis, Periklis; Santoni, Federico A.; Ahmed, Jawad; Katsanis, Nicholas; Walsh, Christopher; Davis, Erica E.; Antonarakis, Stylianos E. Share Save
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