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

Pontocerebellar Hypoplasia Type 9: A New Case with a Novel Mutation and Review of Literature

脑桥小脑发育不全9型:一例新突变病例及文献综述

Abdelrahman, Hanadi A; Akawi, Nadia; Al-Shamsi, Aisha M; Al-Gazali, Lihadh; Ali, Bassam R

Entwined African and Asian genetic roots of medieval peoples of the Swahili coast

斯瓦希里海岸中世纪居民的非洲和亚洲基因根源交织在一起

Brielle, Esther S; Fleisher, Jeffrey; Wynne-Jones, Stephanie; Sirak, Kendra; Broomandkhoshbacht, Nasreen; Callan, Kim; Curtis, Elizabeth; Iliev, Lora; Lawson, Ann Marie; Oppenheimer, Jonas; Qiu, Lijun; Stewardson, Kristin; Workman, J Noah; Zalzala, Fatma; Ayodo, George; Gidna, Agness O; Kabiru, Angela; Kwekason, Amandus; Mabulla, Audax Z P; Manthi, Fredrick K; Ndiema, Emmanuel; Ogola, Christine; Sawchuk, Elizabeth; Al-Gazali, Lihadh; Ali, Bassam R; Ben-Salem, Salma; Letellier, Thierry; Pierron, Denis; Radimilahy, Chantal; Rakotoarisoa, Jean-Aimé; Raaum, Ryan L; Culleton, Brendan J; Mallick, Swapan; Rohland, Nadin; Patterson, Nick; Mwenje, Mohammed Ali; Ahmed, Khalfan Bini; Mohamed, Mohamed Mchulla; Williams, Sloan R; Monge, Janet; Kusimba, Sibel; Prendergast, Mary E; Reich, David; Kusimba, Chapurukha M

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

MED27双等位基因变异会导致不同程度的脑桥-小脑-晶状体变性,并伴有运动障碍。

Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yeşil, Gözde; Alavi, Shahryar; Al Shamsi, Aisha M; Tajsharghi, Homa; Abdel-Hamid, Mohamed S; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schöneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E; Marom, Daphna; Elhanan, Emil; Kurian, Manju A; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Jürgen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayça Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskär, Katarina; Al Aqeel, Aida I; High, Frances A; Armstrong-Javors, Amy E; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A; Ghavideldarestani, Maryam; Kamel, Walaa A; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J; Alkuraya, Fowzan Sami; Lupski, James R; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina

Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database

阿联酋国民遗传疾病和基因变异谱:来自CTGA数据库的启示

Bizzari, Sami; Nair, Pratibha; Hana, Sayeeda; Deepthi, Asha; Al-Ali, Mahmoud Taleb; Al-Gazali, Lihadh; El-Hayek, Stephany

PDZD8 Disruption Causes Cognitive Impairment in Humans, Mice, and Fruit Flies

PDZD8基因缺失会导致人类、小鼠和果蝇的认知障碍

Al-Amri, Ahmed H; Armstrong, Paul; Amici, Mascia; Ligneul, Clemence; Rouse, James; El-Asrag, Mohammed E; Pantiru, Andreea; Vancollie, Valerie E; Ng, Hannah W Y; Ogbeta, Jennifer A; Goodchild, Kirstie; Ellegood, Jacob; Lelliott, Christopher J; Mullins, Jonathan G L; Bretman, Amanda; Al-Ali, Ruslan; Beetz, Christian; Al-Gazali, Lihadh; Al Shamsi, Aisha; Lerch, Jason P; Mellor, Jack R; Al Sayegh, Abeer; Ali, Manir; Inglehearn, Chris F; Clapcote, Steven J

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

MED11 C 端纯合变异会导致致命的神经退行性疾病

Calì, Elisa; Lin, Sheng-Jia; Rocca, Clarissa; Sahin, Yavuz; Al Shamsi, Aisha; El Chehadeh, Salima; Chaabouni, Myriam; Mankad, Kshitij; Galanaki, Evangelia; Efthymiou, Stephanie; Sudhakar, Sniya; Athanasiou-Fragkouli, Alkyoni; Çelik, Tamer; Narlı, Nejat; Bianca, Sebastiano; Murphy, David; De Carvalho Moreira, Francisco Martins; Andrea Accogli; Petree, Cassidy; Huang, Kevin; Monastiri, Kamel; Edizadeh, Masoud; Nardello, Rosaria; Ognibene, Marzia; De Marco, Patrizia; Ruggieri, Martino; Zara, Federico; Striano, Pasquale; Şahin, Yavuz; Al-Gazali, Lihadh; Abi Warde, Marie Therese; Gerard, Benedicte; Zifarelli, Giovanni; Beetz, Christian; Fortuna, Sara; Soler, Miguel; Valente, Enza Maria; Varshney, Gaurav; Maroofian, Reza; Salpietro, Vincenzo; Houlden, Henry

Life-threatening arrhythmias with autosomal recessive TECRL variants

伴有常染色体隐性遗传TECRL变异的危及生命的心律失常

Webster, Gregory; Aburawi, Elhadi H; Chaix, Marie A; Chandler, Stephanie; Foo, Roger; Islam, A K M Monwarul; Kammeraad, Janneke A E; Rioux, John D; Al-Gazali, Lihadh; Sayeed, Md Zahidus; Xiao, Tingting; Zhang, Han; Xie, Lijian; Hou, Cuilan; Ing, Alexander; Yap, Kai Lee; Wilde, Arthur A M; Bhuiyan, Zahurul A

Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders

将外显子组/基因组测序与数据存储库分析相结合,揭示了多种遗传疾病的新型基因-疾病关联。

Bertoli-Avella, Aida M; Kandaswamy, Krishna K; Khan, Suliman; Ordonez-Herrera, Natalia; Tripolszki, Kornelia; Beetz, Christian; Rocha, Maria Eugenia; Urzi, Alize; Hotakainen, Ronja; Leubauer, Anika; Al-Ali, Ruslan; Karageorgou, Vasiliki; Moldovan, Oana; Dias, Patrícia; Alhashem, Amal; Tabarki, Brahim; Albalwi, Mohammed A; Alswaid, Abdulrahman Faiz; Al-Hassnan, Zuhair N; Alghamdi, Malak Ali; Hadipour, Zahra; Hadipour, Fatemeh; Al Hashmi, Nadia; Al-Gazali, Lihadh; Cheema, Huma; Zaki, Maha S; Hüning, Irina; Alfares, Ahmed; Eyaid, Wafaa; Al Mutairi, Fuad; Alfadhel, Majid; Alkuraya, Fowzan S; Al-Sannaa, Nouriya Abbas; AlShamsi, Aisha M; Ameziane, Najim; Rolfs, Arndt; Bauer, Peter

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

复发性纯合EMC10移码变异与一种发育迟缓综合征相关,该综合征伴有不同程度的癫痫发作和畸形特征。

Shao, Diane D; Straussberg, Rachel; Ahmed, Hind; Khan, Amjad; Tian, Songhai; Hill, R Sean; Smith, Richard S; Majmundar, Amar J; Ameziane, Najim; Neil, Jennifer E; Yang, Edward; Al Tenaiji, Amal; Jamuar, Saumya S; Schlaeger, Thorsten M; Al-Saffar, Muna; Hovel, Iris; Al-Shamsi, Aisha; Basel-Salmon, Lina; Amir, Achiya Z; Rento, Lariza M; Lim, Jiin Ying; Ganesan, Indra; Shril, Shirlee; Evrony, Gilad; Barkovich, A James; Bauer, Peter; Hildebrandt, Friedhelm; Dong, Min; Borck, Guntram; Beetz, Christian; Al-Gazali, Lihadh; Eyaid, Wafaa; Walsh, Christopher A

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

特定类型的KMT2D错义变异会导致一种与歌舞伎综合征不同的多发性畸形疾病。

Cuvertino, Sara; Hartill, Verity; Colyer, Alice; Garner, Terence; Nair, Nisha; Al-Gazali, Lihadh; Canham, Natalie; Faundes, Victor; Flinter, Frances; Hertecant, Jozef; Holder-Espinasse, Muriel; Jackson, Brian; Lynch, Sally Ann; Nadat, Fatima; Narasimhan, Vagheesh M; Peckham, Michelle; Sellers, Robert; Seri, Marco; Montanari, Francesca; Southgate, Laura; Squeo, Gabriella Maria; Trembath, Richard; van Heel, David; Venuto, Santina; Weisberg, Daniel; Stals, Karen; Ellard, Sian; Barton, Anne; Kimber, Susan J; Sheridan, Eamonn; Merla, Giuseppe; Stevens, Adam; Johnson, Colin A; Banka, Siddharth