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Items: 1 to 20 of 195

1.
Rui Yin, Maxime Wack, Claire Hassen-Khodja, Michael T. McDuffie, Geraldine Bliss, Elizabeth J. Horn, Cartik Kothari, Brittany McLarney, Rebecca Davis, Kristen Hanson, Megan O’Boyle, Catalina Betancur, Paul Avillach
Mol Autism. 2024; 15: 40. Published online 2024 Sep 30. doi: 10.1186/s13229-024-00619-z
PMCID:
PMC11443936
2.
Anna Zsigmond, Ágnes Till, Judit Bene, Márta Czakó, Alexandra Mikó, Kinga Hadzsiev
Int J Mol Sci. 2024 Jun; 25(11): 5709. Published online 2024 May 24. doi: 10.3390/ijms25115709
PMCID:
PMC11171548
3.
Reza Maroofian, Mina Zamani, Rauan Kaiyrzhanov, Lutz Liebmann, Ehsan Ghayoor Karimiani, Barbara Vona, Antje K. Huebner, Daniel G. Calame, Vinod K. Misra, Saeid Sadeghian, Reza Azizimalamiri, Mohammad Hasan Mohammadi, Jawaher Zeighami, Sogand Heydaran, Mehran Beiraghi Toosi, Javad Akhondian, Meisam Babaei, Narges Hashemi, Rhonda E. Schnur, Mohnish Suri, Jonas Setzke, Matias Wagner, Theresa Brunet, Christopher M. Grochowski, Lisa Emrick, Wendy K. Chung, Ute A. Hellmich, Miriam Schmidts, James R. Lupski, Hamid Galehdari, Mariasavina Severino, Henry Houlden, Christian A. Hübner
Genet Med. 2024 Mar; 26(3): 101034. doi: 10.1016/j.gim.2023.101034
PMCID:
PMC11157690
4.
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
5.
Ghada M. H. Abdel-Salam, Mohamed S. Abdel-Hamid
J Hum Genet. 2024; 69(6): 263–270. Published online 2024 Mar 8. doi: 10.1038/s10038-024-01236-7
PMCID:
PMC11126384
6.
Charlotte Herbst, Viktoria Bothe, Meret Wegler, Susanne Axer-Schaefer, Séverine Audebert-Bellanger, Jozef Gecz, Benjamin Cogne, Hagit Baris Feldman, Anselm H. C. Horn, Anna C. E. Hurst, Melissa A. Kelly, Michael C. Kruer, Alina Kurolap, Annie Laquerriere, Megan Li, Paul R. Mark, Markus Morawski, Mathilde Nizon, Tomi Pastinen, Tilman Polster, Pascale Saugier-Veber, Jang SeSong, Heinrich Sticht, Jens T. Stieler, Isabelle Thifffault, Clare L. van Eyk, Pascale Marcorelles, Myriam Vezain-Mouchard, Rami Abou Jamra, Henry Oppermann
Hum Genet. 2024; 143(3): 455–469. Published online 2024 Mar 25. doi: 10.1007/s00439-024-02655-4
PMCID:
PMC11043173
7.
Ralf A Husain, Xinfu Jiao, J Christopher Hennings, Jan Giesecke, Geeta Palsule, Stefanie Beck-Wödl, Dina Osmanović, Kathrine Bjørgo, Asif Mir, Muhammad Ilyas, Saad M Abbasi, Stephanie Efthymiou, Natalia Dominik, Reza Maroofian, Henry Houlden, Julia Rankin, Alistair T Pagnamenta, Marwan Nashabat, Waleed Altwaijri, Majid Alfadhel, Muhammad Umair, Ebtissal Khouj, William Reardon, Ayman W El-Hattab, Mohammed Mekki, Gunnar Houge, Christian Beetz, Peter Bauer, Audrey Putoux, Gaetan Lesca, Damien Sanlaville, Fowzan S Alkuraya, Robert W Taylor, Hans-Joachim Mentzel, Christian A Hübner, Peter Huppke, Ronald P Hart, Tobias B Haack, Megerditch Kiledjian, Ignacio Rubio
Brain. 2024 Apr; 147(4): 1197–1205. Published online 2023 Dec 23. doi: 10.1093/brain/awad434
PMCID:
PMC10994549
8.
Anna Cavalli, Stefano Giuseppe Caraffi, Susanna Rizzi, Gabriele Trimarchi, Manuela Napoli, Daniele Frattini, Carlotta Spagnoli, Livia Garavelli, Carlo Fusco
BMC Med Genomics. 2024; 17: 68. Published online 2024 Mar 5. doi: 10.1186/s12920-024-01840-8
PMCID:
PMC10916022
9.
Clemer Abad, Maria C. Robayo, Maria del Mar Muñiz-Moreno, Maria T. Bernardi, Maria G. Otero, Christina Kosanovic, Anthony J. Griswold, Tyler Mark Pierson, Katherina Walz, Juan I. Young
Transl Psychiatry. 2024; 14: 33. Published online 2024 Jan 18. doi: 10.1038/s41398-023-02678-x
PMCID:
PMC10796954
10.
Eyyup Uctepe, Barbara Vona, Fatma Nisa Esen, F. Mujgan Sonmez, Thomas Smol, Sait Tümer, Hanifenur Mancılar, Dilan Ece Geylan Durgun, Odile Boute, Meysam Moghbeli, Ehsan Ghayoor Karimiani, Narges Hashemi, Behnoosh Bakhshoodeh, Hyung Goo Kim, Reza Maroofian, Ahmet Yesilyurt
Eur J Hum Genet. 2024 Jan; 32(1): 52–60. Published online 2023 Oct 26. doi: 10.1038/s41431-023-01461-2
PMCID:
PMC10772072
11.
Jiamei Zhang, Hongxing Liu, Mingmei Wang, Yiran Xu, Dengna Zhu, Fan Yang
Mol Genet Genomic Med. 2024 Jan; 12(1): e2333. Published online 2023 Dec 11. doi: 10.1002/mgg3.2333
PMCID:
PMC10767685
12.
Jordan H. Whitlock, Elizabeth J. Wilk, Timothy C. Howton, Amanda D. Clark, Brittany N. Lasseigne
PLoS One. 2024; 19(1): e0296328. Published online 2024 Jan 2. doi: 10.1371/journal.pone.0296328
PMCID:
PMC10760659
13.
Eden Engal, Kaisa Teele Oja, Reza Maroofian, Ophir Geminder, Thuy-Linh Le, Pauline Marzin, Anne Guimier, Evyatar Mor, Naama Zvi, Naama Elefant, Maha S. Zaki, Joseph G. Gleeson, Kai Muru, Sander Pajusalu, Monica H. Wojcik, Divya Pachat, Marwa Abd Elmaksoud, Won Chan Jeong, Hane Lee, Peter Bauer, Giovanni Zifarelli, Henry Houlden, Muhannad Daana, Orly Elpeleg, Jeanne Amiel, Stanislas Lyonnet, Christopher T. Gordon, Tamar Harel, Katrin Õunap, Maayan Salton, Hagar Mor-Shaked
Am J Hum Genet. 2023 Dec 7; 110(12): 2112–2119. Published online 2023 Nov 13. doi: 10.1016/j.ajhg.2023.10.013
PMCID:
PMC10716347
14.
Reza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, Mina Zamani, Maha S Zaki, Matteo Ferla, Domenico Tortora, Saeid Sadeghian, Saadia Maryam Saadi, Uzma Abdullah, Ehsan Ghayoor Karimiani, Stephanie Efthymiou, Gözde Yeşil, Shahryar Alavi, Aisha M Al Shamsi, Homa Tajsharghi, Mohamed S Abdel-Hamid, Nebal Waill Saadi, Fuad Al Mutairi, Lama Alabdi, Christian Beetz, Zafar Ali, Mehran Beiraghi Toosi, Sabine Rudnik-Schöneborn, Meisam Babaei, Pirjo Isohanni, Jameel Muhammad, Sheraz Khan, Maha Al Shalan, Scott E Hickey, Daphna Marom, Emil Elhanan, Manju A Kurian, Dana Marafi, Alihossein Saberi, Mohammad Hamid, Robert Spaull, Linyan Meng, Seema Lalani, Shazia Maqbool, Fatima Rahman, Jürgen Seeger, Timothy Blake Palculict, Tracy Lau, David Murphy, Niccolo Emanuele Mencacci, Katharina Steindl, Anais Begemann, Anita Rauch, Sinan Akbas, Ayça Dilruba Aslanger, Vincenzo Salpietro, Hammad Yousaf, Shay Ben-Shachar, Katarina Ejeskär, Aida I Al Aqeel, Frances A High, Amy E Armstrong-Javors, Seyed Mohammadsaleh Zahraei, Tahereh Seifi, Jawaher Zeighami, Gholamreza Shariati, Alireza Sedaghat, Samaneh Noroozi Asl, Mohmmad Shahrooei, Giovanni Zifarelli, Lydie Burglen, Claudia Ravelli, Johannes Zschocke, Ulrich A Schatz, Maryam Ghavideldarestani, Walaa A Kamel, Hilde Van Esch, Annette Hackenberg, Jenny C Taylor, Lihadh Al-Gazali, Peter Bauer, Joseph J Gleeson, Fowzan Sami Alkuraya, James R Lupski, Hamid Galehdari, Reza Azizimalamiri, Wendy K Chung, Shahid Mahmood Baig, Henry Houlden, Mariasavina Severino
Brain. 2023 Dec; 146(12): 5031–5043. Published online 2023 Jul 30. doi: 10.1093/brain/awad257
PMCID:
PMC10690011
15.
Naeim Ehtesham, Meysam Mosallaei, Maryam Beheshtian, Shahrouz Khoshbakht, Mahsa Fadaee, Raheleh Vazehan, Mehrshid Faraji Zonooz, Parvaneh Karimzadeh, Kimia Kahrizi, Hossein Najmabadi
Arch Iran Med. 2022 Dec; 25(12): 788–797. Published online 2022 Dec 1. doi: 10.34172/aim.2022.124
PMCID:
PMC10685845
16.
Snehal Shah, Sara M. Sarasua, Luigi Boccuto, Brian C. Dean, Liangjiang Wang
Genes (Basel) 2023 Nov; 14(11): 1998. Published online 2023 Oct 26. doi: 10.3390/genes14111998
PMCID:
PMC10671420
17.
Yanyan Zheng, Le Yang, Mengmeng Niu, Siyu Zhao, Lili Liang, Yan Wu, Taoli Li, Fan Yang, Zuozhen Yang, Yan Wang, Dong Wang
Mol Genet Genomic Med. 2023 Nov; 11(11): e2251. Published online 2023 Jul 26. doi: 10.1002/mgg3.2251
PMCID:
PMC10655504
18.
James Fasham, Antje K Huebner, Lutz Liebmann, Reham Khalaf-Nazzal, Reza Maroofian, Nderim Kryeziu, Saskia B Wortmann, Joseph S Leslie, Nishanka Ubeyratna, Grazia M S Mancini, Marjon van Slegtenhorst, Martina Wilke, Tobias B Haack, Hanan E Shamseldin, Joseph G Gleeson, Mohamed Almuhaizea, Imad Dweikat, Bassam Abu-Libdeh, Muhannad Daana, Maha S Zaki, Matthew N Wakeling, Lucy McGavin, Peter D Turnpenny, Fowzan S Alkuraya, Henry Houlden, Peter Schlattmann, Kai Kaila, Andrew H Crosby, Emma L Baple, Christian A Hübner
Brain. 2023 Nov; 146(11): 4547–4561. Published online 2023 Jul 17. doi: 10.1093/brain/awad235
PMCID:
PMC10629776
19.
Henry Oppermann, Elia Marcos-Grañeda, Linnea A. Weiss, Christina A. Gurnett, Anne Marie Jelsig, Susanne H. Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T. Pagnamenta, Simone Race, Siddharth Srivastava, Zoë Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M. Reis, Elena V. Semina, Miriam S. Reuter, Stephen W. Scherer, Maria Iascone, Denisa Weis, Christina R. Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B. Haack, Despoina C. Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R. Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M. Krawitz, Johannes R. Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tümer, Konrad Platzer
Eur J Hum Genet. 2023 Nov; 31(11): 1251–1260. Published online 2023 Aug 30. doi: 10.1038/s41431-023-01445-2
PMCID:
PMC10620399
20.
Wen F. Hu, Maria H. Chahrour, Christopher A. Walsh
Annu Rev Genomics Hum Genet.
Published in final edited form as: Annu Rev Genomics Hum Genet. 2014; 15: 195–213. doi: 10.1146/annurev-genom-090413-025600
PMCID:
PMC10591257

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