Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Daniel G. Calame"'
Autor:
Emily Banks, Vincent Francis, Sheng-Jia Lin, Fares Kharfallah, Vladimir Fonov, Maxime Lévesque, Chanshuai Han, Gopinath Kulasekaran, Marius Tuznik, Armin Bayati, Reem Al-Khater, Fowzan S. Alkuraya, Loukas Argyriou, Meisam Babaei, Melanie Bahlo, Behnoosh Bakhshoodeh, Eileen Barr, Lauren Bartik, Mahmoud Bassiony, Miriam Bertrand, Dominique Braun, Rebecca Buchert, Mauro Budetta, Maxime Cadieux-Dion, Daniel G. Calame, Heidi Cope, Donna Cushing, Stephanie Efthymiou, Marwa Abd Elmaksoud, Huda G. El Said, Tawfiq Froukh, Harinder K. Gill, Joseph G. Gleeson, Laura Gogoll, Elaine S.-Y. Goh, Vykuntaraju K. Gowda, Tobias B. Haack, Mais O. Hashem, Stefan Hauser, Trevor L. Hoffman, Jacob S. Hogue, Akimoto Hosokawa, Henry Houlden, Kevin Huang, Stephanie Huynh, Ehsan G. Karimiani, Silke Kaulfuß, G. Christoph Korenke, Amy Kritzer, Hane Lee, James R. Lupski, Elysa J. Marco, Kirsty McWalter, Arakel Minassian, Berge A. Minassian, David Murphy, Juanita Neira-Fresneda, Hope Northrup, Denis M. Nyaga, Barbara Oehl-Jaschkowitz, Matthew Osmond, Richard Person, Davut Pehlivan, Cassidy Petree, Lynette G. Sadleir, Carol Saunders, Ludger Schoels, Vandana Shashi, Rebecca C. Spillmann, Varunvenkat M. Srinivasan, Paria N. Torbati, Tulay Tos, Undiagnosed Diseases Network, Maha S. Zaki, Dihong Zhou, Christiane Zweier, Jean-François Trempe, Thomas M. Durcan, Ziv Gan-Or, Massimo Avoli, Cesar Alves, Gaurav K. Varshney, Reza Maroofian, David A. Rudko, Peter S. McPherson
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Abstract Developmental and epileptic encephalopathies (DEEs) feature altered brain development, developmental delay and seizures, with seizures exacerbating developmental delay. Here we identify a cohort with biallelic variants in DENND5A, encoding a
Externí odkaz:
https://doaj.org/article/67b9cc39749f4c32a8e5662c1d902770
Autor:
Daniel G. Calame, Jawid M. Fatih, Isabella Herman, Zeynep Coban‐Akdemir, Haowei Du, Tadahiro Mitani, Shalini N. Jhangiani, Dana Marafi, Richard A. Gibbs, Jennifer E. Posey, Vidya P. Mehta, Carrie A. Mohila, Farida Abid, Timothy E. Lotze, Davut Pehlivan, Adekunle M. Adesina, James R. Lupski
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 2052-2058 (2021)
Abstract Exome sequencing (ES) has revolutionized rare disease management, yet only ~25%–30% of patients receive a molecular diagnosis. A limiting factor is the quality of available phenotypic data. Here, we describe how deep clinicopathological ph
Externí odkaz:
https://doaj.org/article/cb34fe521e7d4c82ae7f6de309954374
Publikováno v:
Epilepsy & Behavior Reports, Vol 15, Iss , Pp 100425- (2021)
SV2A encodes a neuronal synaptic vesicle glycoprotein essential for neurotransmitter release. Altered SV2A function leads to epilepsy in animal models, yet only two reports of human variants have linked SV2A to syndromic drug-resistant epileptic ence
Externí odkaz:
https://doaj.org/article/b4b9f49a9c5a4af7a29c5e5fcb2fb98a
Autor:
F. Graeme Frost, Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame, Yuri Uchiyama, Naomichi Matsumoto, Machteld M. Oud, Elise A. Ferreira, Vinodh Narayanan, Sampath Rangasamy, Matt Huentelman, Lisa T. Emrick, Ikuko Sato-Shirai, Satoko Kumada, Nicole I. Wolf, Peter J. Steinbach, Yan Huang, Barbara N. Pusey, Sandrine Passemard, Jonathan Levy, Séverine Drunat, Marie Vincent, Agnès Guet, Emanuele Agolini, Antonio Novelli, Maria Cristina Digilio, Jill A. Rosenfeld, Jennifer L. Murphy, James R. Lupski, Gilbert Vezina, Ellen F. Macnamara, David R. Adams, Maria T. Acosta, Cynthia J. Tifft, William A. Gahl, May Christine V. Malicdan
Publikováno v:
Undiagnosed Diseases Network 2023, ' Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis ', American journal of human genetics, vol. 110, no. 4, pp. 663-680 . https://doi.org/10.1016/j.ajhg.2023.03.001
American Journal of Human Genetics, 110, 4, pp. 663-680
American Journal of Human Genetics, 110, 663-680
American Journal of Human Genetics, 110, 4, pp. 663-680
American Journal of Human Genetics, 110, 663-680
Item does not contain fulltext The vast majority of human genes encode multiple isoforms through alternative splicing, and the temporal and spatial regulation of those isoforms is critical for organismal development and function. The spliceosome, whi
Autor:
Henrike L. Sczakiel, Max Zhao, Brigitte Wollert-Wulf, Magdalena Danyel, Nadja Ehmke, Corinna Stoltenburg, Nadirah Damseh, Motee Al-Ashhab, Tugce B. Balci, Matthew Osmond, Andrea Andrade, Jens Schallner, Joseph Porrmann, Kimberly McDonald, Mingjuan Liao, Henry Oppermann, Konrad Platzer, Nadine Dierksen, Majid Mojarrad, Atieh Eslahi, Behnaz Bakaeean, Daniel G. Calame, James R. Lupski, Zahra Firoozfar, Seyed Mohammad Seyedhassani, Seyed Ahmad Mohammadi, Najwa Anwaar, Fatima Rahman, Dominik Seelow, Martin Janz, Denise Horn, Reza Maroofian, Felix Boschann
FINCA syndrome [MIM: 618278] is an autosomal recessive multisystem disorder characterized by fibrosis, neurodegeneration and cerebral angiomatosis. To date, 13 patients from nine families with biallelic NHLRC2 variants have been published. In all of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57f4c30e125d8e7b4b33e25f77fcc089
http://edoc.mdc-berlin.de/23362/1/23362oa.pdf
http://edoc.mdc-berlin.de/23362/1/23362oa.pdf
Autor:
Hasnaa M. Elbendary, Dana Marafi, Ahmed K. Saad, Rasha Elhossini, Ruizhi Duan, Karima Rafat, Shalini N. Jhangiani, Richard A. Gibbs, Davut Pehlivan, Daniel G. Calame, Jennifer E. Posey, James R. Lupski, Maha S. Zaki
Publikováno v:
Clinical Genetics.
Autor:
Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Javaher Poupak, Corina Heller, Julie Cohen, Richard Person, Aida Telegrafi, Chalongchai Phitsanuwong, Kaylene Fiala, Isabelle Thiffault, Florencia Del Viso, Dihong Zhou, Emily A Fleming, Tomi Pastinen, Ali Fatemi, Sruthi Thomas, Samuel I Pascual, Rosa J Torres, Carmen Prior, Clara Gómez-González, Saskia Biskup, James R Lupski, Dragan Maric, Miguel Holmgren, Debra Regier, Sho T Yano
Publikováno v:
Brain.
ATP1A3 encodes the α3 subunit of the sodium-potassium ATPase, one of two isoforms responsible for powering electrochemical gradients in neurons. Heterozygous pathogenic ATP1A3 variants produce several distinct neurological syndromes, yet the molecul
Autor:
Maimuna S. Paul, Anna R. Duncan, Casie A. Genetti, Hongling Pan, Adam Jackson, Patricia E. Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flores, Dave Shahani, Russell P. Saneto, Giuseppe Zampino, Chiara Leoni, Emanuele Agolini, Antonio Novelli, Ulrike Blümlein, Tobias B. Haack, Wolfram Heinritz, Eva Matzker, Bader Alhaddad, Rami Abou Jamra, Tobias Bartolomaeus, Saber AlHamdan, Raphael Carapito, Bertrand Isidor, Seiamak Bahram, Alyssa Ritter, Kosuke Izumi, Ben Pode Shakked, Ortal Barel, Bruria Ben Zeev, Amber Begtrup, Deanna Alexis Carere, Sureni V. Mullegama, Timothy Blake Palculict, Daniel G. Calame, Katharina Schwan, Alicia R.P. Aycinena, Rasa Traberg, Sofia Douzgou, Harrison Pirt, Naila Ismayilova, Siddharth Banka, Hsiao-Tuan Chao, Pankaj B. Agrawal
Publikováno v:
Am J Hum Genet
Eukaryotic initiation factor-4A2 (EIF4A2) is an ATP-dependent RNA helicase and a member of the DEAD-box protein family that recognizes the 5' cap structure of mRNAs, allows mRNA to bind to the ribosome, and plays an important role in microRNA-regulat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbcbe96535e30d1bd009e97bf4064b59
https://hdl.handle.net/11588/907834
https://hdl.handle.net/11588/907834
Autor:
Sevcan Tug Bozdogan, Ahmet C. Ceylan, Alper Gezdirici, Sukru Candan, Harsha Doddapaneni, Daniel G. Calame, Muhsin Elmas, Özlem Sezer, Shalini N. Jhangiani, Osman Yeşilbaş, Davut Gul, Sinem Yalcintepe, Nursel Elcioglu, Akif Ayaz, Jennifer E. Posey, Ozge Ozalp, Haowei Du, Yavuz Bayram, Betül Kılıç, Moez Dawood, Hatip Aydin, Serdal Güngör, Angad Jolly, Ender Karaca, Haktan Bağış Erdem, Vehap Topcu, Christopher M. Grochowski, Sedat Işıkay, Elif Yilmaz Gulec, Richard A. Gibbs, Ruizhi Duan, Emine Demiral, Donna M. Muzny, Jianhong Hu, Jaya Punetha, Tadahiro Mitani, Tulay Tos, Davut Pehlivan, Huseyin Aslan, Jawid M Fatih, Isabella Herman, Gozde Yesil, Salih Cicek, Zeynep Coban Akdemir, Bilgen Bilge Geçkinli, James R. Lupski, Claudia M.B. Carvalho, Gulsen Akay, Dana Marafi
Publikováno v:
Am J Hum Genet
Neurodevelopmental disorders (NDD5) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or function. The prevalence of NDD5 is > 3%, resulting in significant sociocultural and econom
Autor:
Richard A. Gibbs, Vidya Mehta, Tadahiro Mitani, Shalini N. Jhangiani, James R. Lupski, Isabella Herman, Timothy Lotze, Haowei Du, Zeynep Coban-Akdemir, Davut Pehlivan, Daniel G. Calame, Dana Marafi, Farida Abid, Jawid M Fatih, Jennifer E. Posey, Adekunle M. Adesina, Carrie A. Mohila
Publikováno v:
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 2052-2058 (2021)
Annals of Clinical and Translational Neurology, Vol 8, Iss 10, Pp 2052-2058 (2021)
Exome sequencing (ES) has revolutionized rare disease management, yet only ~25%–30% of patients receive a molecular diagnosis. A limiting factor is the quality of available phenotypic data. Here, we describe how deep clinicopathological phenotyping