日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

神经元黏附分子星形胶质细胞1基因(ASTN1)的双等位基因变异会导致多种神经发育障碍

Levine, Jesse M; Calame, Daniel G; Sangermano, Riccardo; Du, Haowei; Saad, Ahmed; Lisfeld, Jasmin; Bierhals, Tatjana; Denecke, Jonas; Uctepe, Eyyup; Celik, Merve Yoldas; Yesilyurt, Ahmet; Yildiz Er, Hilal; Yilmaz Gulec, Elif; Mushiba, Aziza; Almontashiri, Naif; Gawlinski, Pawel; Wiszniewski, Wojciech; Karaca, Ender; Alabdi, Lama; Pehlivan, Davut; Marafi, Dana; Zaki, Maha S; Alkuraya, Fowzan S; Gleeson, Joseph G; Jhangiani, Shalini N; Gibbs, Richard A; Posey, Jennifer E; Bujakowska, Kinga M; Lupski, James R

Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities

NRDC基因的双等位基因变异会导致一种神经发育障碍,其特征是新生儿死亡、小头畸形和脑部异常。

Pehlivan, Davut; Sandoval, Abigail; Maroofian, Reza; Lecoquierre, François; Al Shamsi, Aisha M; Lee, Gyu S; Yesilbas, Osman; Taylor, Preston; McDougal, Matthew B; Bahrambeigi, Vahid; Aryani, Omid; Ramirez, Juan Felipe; Salih, Khalid Hama; Al Alam, Chadi; Morsy, Heba; Hussien, Haytham; Omar, Tarek; Abdelrazek, Ibrahim M; Brehin, Anne Claire; Marafi, Dana; Kalayci, Tugba; Rahma, Jubran Abu; Talbeya, Jawabreh Kassem; Dabbah, Husein; Verspyck, Eric; Moosavian, Toktam; Fatih, Jawid M; Mitani, Tadahiro; Akay, Gulsen; Calame, Daniel G; Guerrot, Anne-Marie; Chung, Wendy K; Houlden, Henry; Lupski, James R; Shalata, Adel; Yoon, Wan Hee

Omics Technologies in Molecular Biology

分子生物学中的组学技术

Ng, Bobby G; Zhang, Wenyue; Neil, Jennifer E; Danish, Marwa; Marafi, Dana; Kamal, Tarek M; Bastaki, Laila; Al Saffar, Muna; Yang, Edward; He, Miao; Walsh, Christopher A; Mochida, Ganeshwaran H; Freeze, Hudson H; Cortés, Andrés J

Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.

在自闭症谱系障碍患者中发现了KDM5A的单等位基因和双等位基因变异。

El Hayek Lauretta, Gogate Ashlesha, Chen Wei-Chen, Kaur Kiran, Zaki Maha S, De Wachter Matthias, Van Schil Kristof, Dublin-Ryan Leeran, Zamani Mina, Bartos Meghan N, Hiatt Susan M, Courdier Cécile, Michaud Vincent, Kenny Janna, Day Michael, Pang Lewis, Nasab Mahya Ebrahimi, Madani Manshadi Seyed Ali, Eslahi Atieh, Rasoul Masoomeh Ale, Sanchez-Mendoza Eduardo Humberto, DeLuca Charles, Marafi Dana, Stevens Servi J C, Ivanovski Ivan, Frey Tanja, Steindl Katharina, Rauch Anita, O'Connor Kaitlyn, Velinov Milen, Shen Xiaoming, Janssen Etienne J M, Sedighzadeh Sahar, Kordi-Tamandani Dor Mohammad, Khajeh Ali, Elshafie Reem M, Bastaki Laila, Misra Vinod K, Firoozfar Zahra, Goldenberg Paula C, Toosi Mehran Beiraghi, Mojarrad Majid, Kavanagh Karl, Koboldt Daniel C, Margot Henri, Hurst Anna C E, Weber Axel, Bergmann Carsten, Houlden Henry, Maroofian Reza, Weis Denisa, Ceulemans Berten, Chahrour Maria H

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

中心体-纤毛界面处的 CEP76 功能障碍会导致一系列纤毛病。

Khan Kamal, Tavares Erika, Bishara Katherine, Ozanturk Aysegul, Qebibo Leila, Frangakis Stephan, Calame Daniel G, Meunier Isabelle, Bocquet Béatrice, Ploski Rafal, Al Khateeb Mohammad Ayman, Marafi Dana, Mansard Luke, Damaj Lena, Lewis Richard A, Ullah Farid, Arbogast Thomas, Ogden Jackson P, Harion Madeleine, Willems Marjolaine, Zaki Maha S, Bartolomaeus Tobias, Roux Anne-Françoise, Lupski James R, Rydzanicz Malgorzata, Jamra Rami Abou, Ramond Francis, Heon Elise, Burglen Lydie, Davis Erica E

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

UGGT1 双等位基因变异会导致先天性糖基化障碍

Dardas Zain, Harrold Laura, Calame Daniel G, Salter Claire G, Kikuma Takashi, Guay Kevin P, Ng Bobby G, Sano Kanae, Saad Ahmad K, Du Haowei, Sangermano Riccardo, Patankar Sohil G, Jhangiani Shalini N, Gürsoy Semra, Abdel-Hamid Mohamed S, Ahmed Mahmoud K H, Maroofian Reza, Kaiyrzhanov Rauan, Salayev Kamran, Jones Wendy D, Pérez Caballero Ana, McGavin Lucy, Spiller Michael, Durkie Miranda, Wood Nick, O'Grady Lauren, Goldenberg Paula, Neumeyer Ann M, Begtrup Amber, Abdel-Ghafar Sherif F, Zaki Maha S, Van Esch Hilde, Posey Jennifer E, Wenger Olivia K, Scott Ethan M, Bujakowska Kinga M, Gibbs Richard A, Pehlivan Davut, Marafi Dana, Leslie Joseph S, Ubeyratna Nishanka, Day Jacob, Owens Martina, Settle Jessica, Balkhy Soher, Tamim Abdullah, Alabdi Lama, Alkuraya Fowzan S, Takeda Yoichi, Freeze Hudson H, Hebert Daniel N, Lupski James R, Crosby Andrew H, Baple Emma L

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

ACTL6B相关常染色体隐性和显性遗传性脑发育障碍的临床和遗传学特征

Cali, Elisa; Quirin, Tania; Rocca, Clarissa; Efthymiou, Stephanie; Riva, Antonella; Marafi, Dana; Zaki, Maha S; Suri, Mohnish; Dominguez, Roberto; Elbendary, Hasnaa M; Alavi, Shahryar; Abdel-Hamid, Mohamed S; Morsy, Heba; Mau-Them, Frederic Tran; Nizon, Mathilde; Tesner, Pavel; Ryba, Lukáš; Zafar, Faisal; Rana, Nuzhat; Saadi, Nebal W; Firoozfar, Zahra; Gencpinar, Pinar; Unay, Bulent; Ustun, Canan; Bruel, Ange-Line; Coubes, Christine; Stefanich, Jennifer; Sezer, Ozlem; Agolini, Emanuele; Novelli, Antonio; Vasco, Gessica; Lettori, Donatella; Milh, Mathieu; Villard, Laurent; Zeidler, Shimriet; Opperman, Henry; Strehlow, Vincent; Issa, Mahmoud Y; El Khassab, Hebatallah; Chand, Prem; Ibrahim, Shahnaz; Rashidi-Nezhad, Ali; Miryounesi, Mohammad; Larki, Pegah; Morrison, Jennifer; Cristian, Ingrid; Thiffault, Isabelle; Bertsch, Nicole L; Noh, Grace J; Pappas, John; Moran, Ellen; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Hosseini, Susan; Abbaszadegan, Mohammad Reza; Caumes, Roseline; Vissers, Lisenka E L M; Neshatdoust, Maedeh; Montazer Zohour, Mostafa; El Fahime, Elmostafa; Canavati, Christina; Kamal, Lara; Kanaan, Moien; Askander, Omar; Voinova, Victoria; Levchenko, Olga; Haider, Shahzhad; Halbach, Sara S; Elias Maia, Rayana; Mansoor, Salehi; Jain, Vivek; Tawde, Sanjukta; Challa, Viveka Santhosh R; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Victor, Lucas Alves; Pinero-Banos, Benito; Hague, Jennifer; ElAwady, Heba Ahmed; Maria de Miranda Henriques-Souza, Adelia; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Idkaidak, Sara; Alqarajeh, Firas; Atawneh, Osama; Mor-Shaked, Hagar; Harel, Tamar; Zifarelli, Giovanni; Bauer, Peter; Kok, Fernando; Kitajima, Joao Paulo; Monteiro, Fabiola; Josahkian, Juliana; Lesca, Gaetan; Chatron, Nicolas; Ville, Dorothe; Murphy, David; Neul, Jeffrey L; Mullegama, Sureni V; Begtrup, Amber; Herman, Isabella; Mitani, Tadahiro; Posey, Jennifer E; Tay, Chee Geap; Javed, Iram; Carr, Lucinda; Kanani, Farah; Beecroft, Fiona; Hane, Lee; Abdelkreem, Elsayed; Macek, Milan; Bispo, Luciana; Elmaksoud, Marwa Abd; Hashemi-Gorji, Farzad; Pehlivan, Davut; Amor, David J; Jamra, Rami Abou; Chung, Wendy K; Ghayoor Karimiani, Eshan; Campeau, Philippe M; Alkuraya, Fowzan S; Pagnamenta, Alistair T; Gleeson, Joseph G; Lupski, James R; Striano, Pasquale; Moreno-De-Luca, Andres; Lafontaine, Denis L J; Houlden, Henry; Maroofian, Reza

Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32

基因组平衡之道:解读涉及 5p15.2、2q31.1 和 18q21.32 的复杂染色体畸变中的 DNA 重排

Dardas, Zain; Marafi, Dana; Duan, Ruizhi; Fatih, Jawid M; El-Rashidy, Omnia F; Grochowski, Christopher M; Carvalho, Claudia M B; Jhangiani, Shalini N; Bi, Weimin; Du, Haowei; Gibbs, Richard A; Posey, Jennifer E; Calame, Daniel G; Zaki, Maha S; Lupski, James R

[Evaluation of Chlamydia muridarum and mixed bacteria-induced chronic salpingitis models and optimization of mixed bacterial dosage]

[对鼠衣原体和混合细菌引起的慢性输卵管炎模型进行评价,并优化混合细菌的剂量]

Penon-Portmann, Monica; Eldomery, Mohammad K; Potocki, Lorraine; Marafi, Dana; Posey, Jennifer E; Coban-Akdemir, Zeynep; Harel, Tamar; Grochowski, Christopher M; Loucks, Hailey; Devine, Walter Patrick; Van Ziffle, Jessica; Doherty, Dan; Lupski, James R; Shieh, Joseph T; 何, 柳青; 文, 铃淼; 张, 璐; 张, 丽; 徐, 皓菲; 钱, 远鑫; 肖, 思涵; 丁, 维俊; 王, 依澜; 黄, 叶芳

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism

WASHC3基因(WASH复合体的一个组成部分)的变异会导致身材矮小、不同程度的神经发育异常和独特的面部畸形。

Jee, Youn Hee; Lui, Julian C; Marafi, Dana; Xia, Zhi-Jie; Bhatia, Ruchika; Zhou, Elaine; Herman, Isabella; Temnycky, Adrian; Whalen, Philip; Elliot, Gene; Leschek, Ellen W; Wijngaard, Robin; van Beek, Ronald; de Vreugd, Annemarie; de Vries, Maaike C; van Karnebeek, Clara D M; Oud, Machteld M; Markello, Thomas C; Barnes, Kevin M; Alrohaif, Hadil; Freeze, Hudson H; Gahl, William A; Malicdan, May Christine V; Posey, Jennifer E; Lupski, James R; Baron, Jeffrey