未登录 Postnatal Brain Trajectories and Maternal Intelligence Predict Childhood Outcomes in Complex CHD Lee, Vincent K.; Ceschin, Rafael; Reynolds, William T.; Meyers, Benjamin; Wallace, Julia; Landsittel, Douglas; Joseph, Heather M.; Badaly, Daryaneh; Gaynor, J. William; Licht, Daniel; Greene, Nathaniel H.; Brady, Ken M.; Hunter, Jill V.; Chu, Zili D.; Wilde, Elisabeth A.; Easley, R. Blaine; Andropoulos, Dean; Panigrahy, Ashok 分享 收藏
Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide-mediated dysregulation of claudin expression Kho, Jordan; Polak, Urszula; Jiang, Ming-Ming; Odom, John D.; Hunter, Jill V.; Ali, Saima M.; Burrage, Lindsay C.; Nagamani, Sandesh C. S.; Pautler, Robia G.; Thompson, Hannah P.; Urayama, Akihiko; Jin, Zixue; Lee, Brendan 分享 收藏
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease Calame, Daniel G.; Guo, Tianyu; Wang, Chen; Garrett, Lillian; Jolly, Angad; Dawood, Moez; Kurolap, Alina; Henig, Noa Zunz; Fatih, Jawid M.; Herman, Isabella; Du, Haowei; Mitani, Tadahiro; Becker, Lore; Rathkolb, Birgit; Gerlini, Raffaele; Seisenberger, Claudia; Marschall, Susan; Hunter, Jill, V; Gerard, Amanda; Heidlebaugh, Alexis; Challman, Thomas; Spillmann, Rebecca C.; Jhangiani, Shalini N.; Coban-Akdemir, Zeynep; Lalani, Seema; Liu, Lingxiao; Revah-Politi, Anya; Iglesias, Alejandro; Guzman, Edwin; Baugh, Evan; Boddaert, Nathalie; Rondeau, Sophie; Ormieres, Clothide; Barcia, Giulia; Tan, Queenie K. G.; Thiffault, Sophie Isabelle; Pastinen, Tomi; Sheikh, Kazim; Biliciler, Suur; Mei, Davide; Melani, Federico; Shashi, Vandana; Yaron, Yuval; Steele, Mary; Wakeling, Emma; Ostergaard, Elsebet; Nazaryan-Petersen, Lusine; Millan, Francisca; Santiago-Sim, Teresa; Thevenon, Julien; Bruel, Ange-Line; Thauvin-Robinet, Christel; Popp, Denny; Platzer, Konrad; Gawlinski, Pawel; Wiszniewski, Wojciech; Marafi, Dana; Pehlivan, Davut; Posey, Jennifer E.; Gibbs, Richard A.; Gailus-Durner, Valerie; Guerrini, Renzo; Fuchs, Helmut; de Angelis, Martin Hrabe; Hoelter, Sabine M.; Cheung, Hoi-Hung; Gu, Shen; Lupski, James R. 分享 收藏
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TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions Hijazi, Hadia; Reis, Linda M.; Pehlivan, Davut; Bernstein, Jonathan A.; Muriello, Michael; Syverson, Erin; Bonner, Devon; Estiar, Mehrdad A.; Gan-Or, Ziv; Rouleau, Guy A.; Lyulcheva, Ekaterina; Greenhalgh, Lynn; Tessarech, Marine; Colin, Estelle; Guichet, Agnes; Bonneau, Dominique; van Jaarsveld, R. H.; Lachmeijer, A. M. A.; Ruaud, Lyse; Levy, Jonathan; Tabet, Anne-Claude; Ploski, Rafal; Rydzanicz, Magorzata; Kepczynski, Lukasz; Poatynska, Katarzyna; Li, Yidan; Fatih, Jawid M.; Marafi, Dana; Rosenfeld, Jill A.; Coban-Akdemir, Zeynep; Bi, Weimin; Gibbs, Richard A.; Hobson, Grace M.; Hunter, Jill V.; Carvalho, Claudia M. B.; Posey, Jennifer E.; Semina, Elena V.; Lupski, James R. 分享 收藏
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia Calame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; Bakhtiari, Somayeh; Ito, Yoko A.; Rocca, Clarissa; Hunter, Jill, V; Sutton, V. Reid; Emrick, Lisa T.; Boycott, Kym M.; Lossos, Alexander; Fellig, Yakov; Prus, Eugenia; Kalish, Yosef; Meiner, Vardiella; Suerink, Manon; Ruivenkamp, Claudia; Muirhead, Kayla; Saadi, Nebal W.; Zaki, Maha S.; Bouman, Arjan; Barakat, Tahsin Stefan; Skidmore, David L.; Osmond, Matthew; Silva, Thiago Oliveira; Murphy, David; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Jaddoa, Asaad Ghanim; Tajsharghi, Homa; Jin, Sheng Chih; Abbaszadegan, Mohammad Reza; Ebrahimzadeh-Vesal, Reza; Hosseini, Susan; Alavi, Shahryar; Bahreini, Amir; Zarean, Elahe; Salehi, Mohammad Mehdi; Al-Sannaa, Nouriya Abbas; Zifarelli, Giovanni; Bauer, Peter; Robson, Simon C.; Coban-Akdemir, Zeynep; Travaglini, Lorena; Nicita, Francesco; Jhangiani, Shalini N.; Gibbs, Richard A.; Posey, Jennifer E.; Kruer, Michael C.; Kernohan, Kristin D.; Morales Saute, Jonas A.; Houlden, Henry; Vanderver, Adeline; Elsea, Sarah H.; Pehlivan, Davut; Marafi, Dana; Lupski, James R. 分享 收藏
Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy Calame, Daniel G.; Bakhtiari, Somayeh; Logan, Rachel; Coban-Akdemir, Zeynep; Du, Haowei; Mitani, Tadahiro; Fatih, Jawid M.; Hunter, Jill V.; Herman, Isabella; Pehlivan, Davut; Jhangiani, Shalini N.; Person, Richard; Schnur, Rhonda E.; Jin, Sheng Chih; Bilguvar, Kaya; Posey, Jennifer E.; Koh, Sookyong; Firouzabadi, Saghar G.; Alehabib, Elham; Tafakhori, Abbas; Esmkhani, Sahra; Gibbs, Richard A.; Noureldeen, Mahmoud M.; Zaki, Maha S.; Marafi, Dana; Darvish, Hossein; Kruer, Michael C.; Lupski, James R. 分享 收藏
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy Marafi, Dana; Fatih, Jawid M.; Kaiyrzhanov, Rauan; Ferla, Matteo P.; Gijavanekar, Charul; Al-Maraghi, Aljazi; Liu, Ning; Sites, Emily; Alsaif, Hessa S.; Al-Owain, Mohammad; Zakkariah, Mohamed; El-Anany, Ehab; Guliyeva, Ulviyya; Guliyeva, Sughra; Gaba, Colette; Haseeb, Ateeq; Alhashem, Amal M.; Danish, Enam; Karageorgou, Vasiliki; Beetz, Christian; Subhi, Alaa A.; Mullegama, Sureni, V; Torti, Erin; Sebastin, Monisha; Breilyn, Margo Sheck; Duberstein, Susan; Abdel-Hamid, Mohamed S.; Mitani, Tadahiro; Du, Haowei; Rosenfeld, Jill A.; Jhangiani, Shalini N.; Akdemir, Zeynep Coban; Gibbs, Richard A.; Taylor, Jenny C.; Fakhro, Khalid A.; Hunter, Jill, V; Pehlivan, Davut; Zaki, Maha S.; Gleeson, Joseph G.; Maroofian, Reza; Houlden, Henry; Posey, Jennifer E.; Sutton, V. Reid; Alkuraya, Fowzan S.; Elsea, Sarah H.; Lupski, James R. 分享 收藏
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies Dworschak, Gabriel C.; Punetha, Jaya; Kalanithy, Jeshurun C.; Mingardo, Enrico; Erdem, Haktan B.; Akdemir, Zeynep C.; Karaca, Ender; Mitani, Tadahiro; Marafi, Dana; Fatih, Jawid M.; Jhangiani, Shalini N.; Hunter, Jill V.; Dakal, Tikam Chand; Dhabhai, Bhanupriya; Dabbagh, Omar; Alsaif, Hessa S.; Alkuraya, Fowzan S.; Maroofian, Reza; Houlden, Henry; Efthymiou, Stephanie; Dominik, Natalia; Salpietro, Vincenzo; Sultan, Tipu; Haider, Shahzad; Bibi, Farah; Thiele, Holger; Hoefele, Julia; Riedhammer, Korbinian M.; Wagner, Matias; Guella, Ilaria; Demos, Michelle; Keren, Boris; Buratti, Julien; Charles, Perrine; Nava, Caroline; Heron, Delphine; Heide, Solveig; Valkanas, Elise; Waddell, Leigh B.; Jones, Kristi J.; Oates, Emily C.; Cooper, Sandra T.; MacArthur, Daniel; Syrbe, Steffen; Ziegler, Andreas; Platzer, Konrad; Okur, Volkan; Chung, Wendy K.; O'Shea, Sarah A.; Alcalay, Roy; Fahn, Stanley; Mark, Paul R.; Guerrini, Renzo; Vetro, Annalisa; Hudson, Beth; Schnur, Rhonda E.; Hoganson, George E.; Burton, Jennifer E.; McEntagart, Meriel; Lindenberg, Tobias; Yilmaz, Oeznur; Odermatt, Benjamin; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R.; Reutter, Heiko 分享 收藏
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia MED27变异导致发育迟缓、肌张力障碍和小脑发育不全 Meng, Linyan; Isohanni, Pirjo; Shao, Yunru; Graham, Brett H.; Hickey, Scott E.; Brooks, Stephanie; Suomalainen, Anu; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Hackenberg, Annette; High, Frances A.; Armstrong-Javors, Amy; Mencacci, Niccolo E.; Gonzalez-Latapi, Paulina; Kamel, Walaa A.; Al-Hashel, Jasem Y.; Bustos, Bernabe, I; Hernandez, Alejandro, V; Krainc, Dimitri; Lubbe, Steven J.; Van Esch, Hilde; De Luca, Chiara; Ballon, Katleen; Ravelli, Claudia; Burglen, Lydie; Qebibo, Leila; Calame, Daniel G.; Mitani, Tadahiro; Marafi, Dana; Pehlivan, Davut; Saadi, Nebal W.; Sahin, Yavuz; Maroofian, Reza; Efthymiou, Stephanie; Houlden, Henry; Maqbool, Shazia; Rahman, Fatima; Gu, Shen; Posey, Jennifer E.; Lupski, James R.; Hunter, Jill, V; Wangler, Michael F.; Carroll, Christopher J.; Yang, Yaping 分享 收藏
Developmental Alterations in Cortical Organization and Socialization in Adolescents Who Sustained a Traumatic Brain Injury in Early Childhood Wilde, Elisabeth A.; Merkley, Tricia L.; Lindsey, Hannah M.; Bigler, Erin D.; Hunter, Jill V.; Ewing-Cobbs, Linda; Aitken, Mary E.; MacLeod, Marianne C.; Hanten, Gerri; Chu, Zili D.; Abildskov, Tracy J.; Noble-Haeusslein, Linda J.; Levin, Harvey S. 分享 收藏
Biallelic in-frame deletion in TRAPPC4 in a family with developmental delay and cerebellar atrophy Saad, Ahmed K.; Marafi, Dana; Mitani, Tadahiro; Jolly, Angad; Du, Haowei; Elbendary, Hasnaa M.; Jhangiani, Shalini N.; Akdemir, Zeynep C.; Gibbs, Richard A.; Hunter, Jill V.; Carvalho, Claudia M. B. C.; Pehlivan, Davut; Posey, Jennifer E.; Zaki, Maha S.; Lupski, James R. 分享 收藏
Diffusion Tensor Imaging Indicators of White Matter Injury Are Correlated with a Multimodal Electroencephalography-Based Biomarker in Slow Recovering, Concussed Collegiate Athletes Wilde, Elisabeth A.; Goodrich-Hunsaker, Naomi J.; Ware, Ashley L.; Taylor, Brian A.; Biekman, Brian D.; Hunter, Jill, V; Newman-Norlund, Roger; Scarneo, Samantha; Casa, Douglas J.; Levin, Harvey S. 分享 收藏
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Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy Marafi, Dana; Mitani, Tadahiro; Isikay, Sedat; Hertecant, Jozef; Almannai, Mohammed; Manickam, Kandamurugu; Abou Jamra, Rami; El-Hattab, Ayman W.; Rajah, Jaishen; Fatih, Jawid M.; Du, Haowei; Karaca, Ender; Bayram, Yavuz; Punetha, Jaya; Rosenfeld, Jill A.; Jhangiani, Shalini N.; Boerwinkle, Eric; Akdemir, Zeynep C.; Erdin, Serkan; Hunter, Jill, V; Gibbs, Richard A.; Pehlivan, Davut; Posey, Jennifer E.; Lupski, James R. 分享 收藏
Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability TRAPPC4介导的囊泡运输缺陷与严重的综合征性智力障碍有关 Van Bergen, Nicole J.; Guo, Yiran; Al-Deri, Noraldin; Lipatova, Zhanna; Stanga, Daniela; Zhao, Sarah; Murtazina, Rakhilya; Gyurkovska, Valeriya; Pehlivan, Davut; Mitani, Tadahiro; Gezdirici, Alper; Antony, Jayne; Collins, Felicity; Willis, Mary J. H.; Akdemir, Zeynep H. Coban; Liu, Pengfei; Punetha, Jaya; Hunter, Jill V.; Jhangiani, Shalini N.; Fatih, Jawid M.; Rosenfeld, Jill A.; Posey, Jennifer E.; Gibbs, Richard A.; Karaca, Ender; Massey, Sean; Ranasinghe, Thisara G.; Sleiman, Patrick; Troedson, Chris; Lupski, James R.; Sacher, Michael; Segev, Nava; Hakonarson, Hakon; Christodoulou, John 分享 收藏
GNA11 brain somatic pathogenic variant in an individual with phacomatosis pigmentovascularis Sliepka, Joseph M.; McGriff, Sarah C.; Rossetti, Linda Z.; Bizargity, Peyman; Streff, Haley; Lee, Yi-Shan; Dai, Hongzheng; Polubothu, Satyamaanasa; Lee, Grace; Ren, Vicky; Hunter, Jill, V; Curry, Daniel J.; Scaglia, Fernando; Adesina, Adekunle M.; Ali, Irfan; Kinsler, Veronica; Burrage, Lindsay C.; Marafi, Dana 分享 收藏
Persistent Disruption of Brain Connectivity after Sports-Related Concussion in a Female Athlete Wilde, Elisabeth A.; Newsome, Mary R.; Ott, Summer D.; Hunter, Jill V.; Dash, Pramod; Redell, John; Spruiell, Matthew; Diaz, Marlene; Chu, Zili D.; Goodrich-Hunsaker, Naomi; Petrie, JoAnn; Li, Ruosha; Levin, Harvey 分享 收藏
Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders Mitani, Tadahiro; Punetha, Jaya; Akalin, Ibrahim; Pehlivan, Davut; Dawidziuk, Mateusz; Akdemir, Zeynep Coban; Yilmaz, Sarenur; Aslan, Ezgi; Hunter, Jill V.; Hijazi, Hadia; Grochowski, Christopher M.; Jhangiani, Shalini N.; Karaca, Ender; Fatih, Jawid M.; Iwanowski, Piotr; Gambin, Tomasz; Wlasienko, Pawel; Goszczanska-Ciuchta, Alicja; Bekiesinska-Figatowska, Monika; Hosseini, Masoumeh; Arzhangi, Sanaz; Najmabadi, Hossein; Rosenfeld, Jill A.; Du, Haowei; Marafi, Dana; Blaser, Susan; Teitelbaum, Ronni; Silver, Rachel; Posey, Jennifer E.; Ropers, Hans-Hilger; Gibbs, Richard A.; Wiszniewski, Wojciech; Lupski, James R.; Chitayat, David; Kahrizi, Kimia; Gawlinski, Pawel 分享 收藏
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