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Items: 1 to 20 of 245

1.
Christina L. Magyar, David R. Murdock, Lindsay C. Burrage, Hongzheng Dai, Seema R. Lalani, Richard A. Lewis, Yuezhen Lin, Marcela F. Astudillo, Jill A. Rosenfeld, Alyssa A. Tran, James B. Gibson, Undiagnosed Diseases Network, Carlos A. Bacino, Brendan H. Lee, Hsiao-Tuan Chao
Am J Med Genet A.
Published in final edited form as: Am J Med Genet A. 2022 Jun; 188(6): 1868–1874. Published online 2022 Feb 23. doi: 10.1002/ajmg.a.62704
PMCID:
PMC11149102
2.
Qingtian Li, Fan Lei, Yi Tang, Jenny Szu-Chin Pan, Qiang Tong, Yuxiang Sun, David Sheikh-Hamad
Cell Mol Life Sci. 2018 Nov; 75(21): 4021–4040. Published online 2018 Jun 9. doi: 10.1007/s00018-018-2847-3
PMCID:
PMC11105752
3.
Ekaterina Tolmacheva, Anna S. Bolshakova, Jekaterina Shubina, Margarita S. Rogacheva, Alexey N. Ekimov, Julia L. Podurovskaya, Artem A. Burov, Denis V. Rebrikov, Vladimir G. Bychenko, Dmitry Yu. Trofimov, Gennady T. Sukhikh
BMC Med Genomics. 2024; 17: 130. Published online 2024 May 14. doi: 10.1186/s12920-024-01857-z
PMCID:
PMC11094910
4.
Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S Alkuraya, Maha S Zaki, Mariasavina Severino, Kingsley C Duru, Robert C Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G Nichols, Marie F Smeland, Conor McClenaghan
Brain. 2024 May; 147(5): 1822–1836. Published online 2024 Jan 13. doi: 10.1093/brain/awae010
PMCID:
PMC11068106
5.
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian
Brain. 2024 Apr; 147(4): 1436–1456. Published online 2023 Nov 10. doi: 10.1093/brain/awad380
PMCID:
PMC10994533
6.
Karen L. Oliver, Marina Trivisano, Simone A. Mandelstam, Angela De Dominicis, David I. Francis, Timothy E. Green, Alison M. Muir, Apoorva Chowdhary, Christoph Hertzberg, Klaus Goldhahn, Julia Metreau, Christine Prager, Jason Pinner, Michael Cardamone, Kenneth A. Myers, Richard J. Leventer, Gaetan Lesca, Melanie Bahlo, Michael S. Hildebrand, Heather C. Mefford, Angela M. Kaindl, Nicola Specchio, Ingrid E. Scheffer
Epilepsia. 2023 May; 64(5): 1351–1367. Published online 2023 Mar 11. doi: 10.1111/epi.17542
PMCID:
PMC10952634
7.
Haoyu Jiang, Anna O. Giarratana, Thomas Theis, Vini Nagaraj, Xiaofeng Zhou, Smita Thakker-Varia, Melitta Schachner, Janet Alder
Int J Mol Sci. 2024 Mar; 25(5): 3043. Published online 2024 Mar 6. doi: 10.3390/ijms25053043
PMCID:
PMC10932301
8.
Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca, Caterina Gambi, Luca Soliani, Veronica Di Pisa, Silvia Martini, Giacomo Sperti, Valeria Cagnazzo, Patrizia Accorsi, Emanuele Bartolini, Domenica Battaglia, Pia Bernardo, Maria Paola Canevini, Anna Rita Ferrari, Lucio Giordano, Chiara Locatelli, Margherita Mancardi, Alessandro Orsini, Tommaso Pippucci, Dario Pruna, Anna Rosati, Agnese Suppiej, Sara Tagliani, Alessandro Vaisfeld, Aglaia Vignoli, Kosuke Izumi, Ian Krantz, Duccio Maria Cordelli
Orphanet J Rare Dis. 2024; 19: 107. Published online 2024 Mar 8. doi: 10.1186/s13023-024-03065-5
PMCID:
PMC10921669
9.
Sheng Yi, Xianglian Tang, Fei Chen, Linlin Wang, Junjie Chen, Zuojian Yang, Minpan Huang, Shang Yi, Limei Huang, Qi Yang, Shuihua Yang, Pingshan Pan, Zailong Qin, Jingsi Luo
Mol Genet Genomic Med. 2024 Jan; 12(1): e2358. Published online 2024 Jan 12. doi: 10.1002/mgg3.2358
PMCID:
PMC10785557
10.
Fan Yang, Yu Ding, Yirou Wang, Qingwen Zhang, Hao Li, Tingting Yu, Guoying Chang, Xiumin Wang
Medicine (Baltimore) 2024 Jan 12; 103(2): e35908. Published online 2024 Jan 12. doi: 10.1097/MD.0000000000035908
PMCID:
PMC10783315
11.
Mònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, Marcos Frías, Marta Morell, Manel García-Aragonés, Florencia Epifani, Jordi Muchart, María Luisa Ramírez-Almaraz, Loreto Martorell, Cristina Hernando-Davalillo, Roser Urreizti, Mercedes Serrano
Int J Mol Sci. 2023 Sep; 24(18): 13699. Published online 2023 Sep 5. doi: 10.3390/ijms241813699
PMCID:
PMC10530954
12.
Thuong T. Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A. Mandelstam, Alison E. Gardner, Atma M. Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M. Ryan, Sophie Calvert, Clare L. van Eyk, Michael Lardelli, Samuel F. Berkovic, Richard J. Leventer, Linda J. Richards, Ingrid E. Scheffer, Jozef Gecz, Mark A. Corbett
Genes (Basel) 2023 Aug; 14(8): 1565. Published online 2023 Jul 31. doi: 10.3390/genes14081565
PMCID:
PMC10454071
13.
Afshin Saffari, Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Stephanie Efthymiou, Giovanni Zifarelli, Tipu Sultan, Mehran Beiraghi Toosi, Sahar Sedighzadeh, Victoria Mok Siu, Juan Darío Ortigoza-Escobar, Aisha M AlShamsi, Shahnaz Ibrahim, Nouriya Abbas Al-Sannaa, Walla Al-Hertani, Whalen Sandra, Mark Tarnopolsky, Shahryar Alavi, Chumei Li, Debra-Lynn Day-Salvatore, Maria Jesús Martínez-González, Kristin M Levandoski, Emma Bedoukian, Suneeta Madan-Khetarpal, Michaela J Idleburg, Minal Juliet Menezes, Aishwarya Siddharth, Konrad Platzer, Henry Oppermann, Martin Smitka, Felicity Collins, Monkol Lek, Mohmmad Shahrooei, Maryam Ghavideldarestani, Isabella Herman, John Rendu, Julien Faure, Janice Baker, Vikas Bhambhani, Laurel Calderwood, Javad Akhondian, Shima Imannezhad, Hanieh Sadat Mirzadeh, Narges Hashemi, Mohammad Doosti, Mojtaba Safi, Najmeh Ahangari, Paria Najarzadeh Torbati, Soheila Abedini, Vincenzo Salpietro, Elif Yilmaz Gulec, Safieh Eshaghian, Mohammadreza Ghazavi, Michael T Pascher, Marina Vogel, Angela Abicht, Sébastien Moutton, Ange-Line Bruel, Claudine Rieubland, Sabina Gallati, Tim M Strom, Hanns Lochmüller, Mohammad Hasan Mohammadi, Javeria Raza Alvi, Elaine H Zackai, Beth A Keena, Cara M Skraban, Seth I Berger, Erin H Andrew, Elham Rahimian, Michelle M Morrow, Ingrid M Wentzensen, Francisca Millan, Lindsay B Henderson, Hormos Salimi Dafsari, Heinz Jungbluth, Natalia Gomez-Ospina, Anne McRae, Merlene Peter, Danai Veltra, Nikolaos M Marinakis, Christalena Sofocleous, Farah Ashrafzadeh, Davut Pehlivan, Johannes R Lemke, Judith Melki, Audrey Benezit, Peter Bauer, Denisa Weis, James R Lupski, Jan Senderek, John Christodoulou, Wendy K Chung, Rose Goodchild, Amaka C Offiah, Andres Moreno-De-Luca, Mohnish Suri, Darius Ebrahimi-Fakhari, Henry Houlden, Reza Maroofian
Brain. 2023 Aug; 146(8): 3273–3288. Published online 2023 Feb 9. doi: 10.1093/brain/awad039
PMCID:
PMC10393417
14.
Hanya M Qureshi, Kedous Y Mekbib, Garrett Allington, Aladine A Elsamadicy, Phan Q Duy, Adam J Kundishora, Sheng Chih Jin, Kristopher T Kahle
Cereb Cortex. 2023 Mar 15; 33(6): 3012–3025. Published online 2022 Jul 18. doi: 10.1093/cercor/bhac257
PMCID:
PMC10388392
15.
Michal Hutny, Patryk Lipinski, Aleksandra Jezela-Stanek
Genes (Basel) 2023 Jun; 14(6): 1208. Published online 2023 May 31. doi: 10.3390/genes14061208
PMCID:
PMC10298423
16.
Alex P. A. Donovan, Lauren Rosko, Jacob Ellegood, Yushi Redhead, Jeremy B. A. Green, Jason P. Lerch, Jeffrey K. Huang, M. Albert Basson
J Anat. 2023 Jul; 243(1): 51–65. Published online 2023 Mar 13. doi: 10.1111/joa.13856
PMCID:
PMC10273342
17.
Lyna Siafa, Emanuela Argilli, Elliott H. Sherr, Kenneth A. Myers
Pediatr Neurol.
Published in final edited form as: Pediatr Neurol. 2022 Jun; 131: 1–3. Published online 2022 Mar 31. doi: 10.1016/j.pediatrneurol.2022.03.005
PMCID:
PMC10257559
18.
Gemma Marinella, Eugenia Conti, Bianca Buchignani, Giada Sgherri, Rosa Pasquariello, Flavio Giordano, Paola Cristofani, Roberta Battini, Agatino Battaglia
Am J Med Genet A. 2023 Feb; 191(2): 540–545. Published online 2022 Nov 2. doi: 10.1002/ajmg.a.63018
PMCID:
PMC10091694
19.
Keiko Akahoshi, Eiji Nakagawa, Yu-ichi Goto, Ken Inoue
BMC Med Genomics. 2023; 16: 43. Published online 2023 Mar 6. doi: 10.1186/s12920-023-01465-3
PMCID:
PMC9987063
20.
Sissel Løseth, Helle Høyer, Kim-Mai Le, Eric Delpire, Einar Kinge, Asgeir Lande, Hilde Tveitan Hilmarsen, Toril Fagerheim, Øivind Nilssen, Geir Julius Braathen
Brain. 2023 Mar; 146(3): 912–922. Published online 2022 Dec 21. doi: 10.1093/brain/awac488
PMCID:
PMC9976957

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