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

Adult genomic medicine: lessons from a multisite study of 2700 patients

成人基因组医学:一项纳入2700名患者的多中心研究的经验教训

Bakur, Khadijah; Hamid, Halima; Alhaddad, Bader; Alfadhel, Majid; Alhashem, Amal; Eyaid, Wafaa; Alanzi, Talal; Al Mutairi, Fuad; Alswaid, Abdulrahman; Ababneh, Farouq; Al Ghamdi, Malak; Mohamed, Sarar; Alaskar, Ahmed; Alqahtani, Farjah; Alzaidan, Hamad; Al-Owain, Mohammed; Faqeih, Eissa A; Mushiba, Aziza M; Alanazi, Rola; Almoallem, Basamat; Alsaleh, Norah Saleh; Al Tala, Saeed; Alshammari, Muneera; Turkistani, Alyazeed; Gosadi, Ghadah; Hakami, Fahad; Alobaid, Fahad; Al Rukban, Hadeel; Alfaidi, Ahmed; Ba-Abbad, Rola; Almuqbil, Mohammed A; Al-Boukai, Ahmad; Alamri, Abdulrahman Saad; Alshehri, Ali; Sulaiman, Raashda A; Almontasheri, Ali; Danish, Enam; AlSagheir, Afaf; Aljeaid, Deema; Al-Awam, Bashayer S; Shawli, Aiman; Al-Otaibi, Maha; Majdali, Wed Sameer; Azher, Zohor Asaad; Almannai, Mohammed; Baalawi, Wail; AlAbdi, Lama; Benoukraf, Touati; Alkuraya, Fowzan S

CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans

CIROZ在脊椎动物祖先中并非必需,但对人类的左右模式形成至关重要。

Emmanuelle Szenker-Ravi ,Tim Ott ,Amirah Yusof ,Maya Chopra ,Muznah Khatoo ,Beatrice Pak ,Wei Xuan Goh ,Anja Beckers ,Angela F Brady ,Lisa J Ewans ,Nabila Djaziri ,Naif A M Almontashiri ,Malak Ali Alghamdi ,Essa Alharby ,Majed Dasouki ,Lindsay Romo ,Wen-Hann Tan ,Sateesh Maddirevula ,Fowzan S Alkuraya ,Jessica L Giordano ,Anna Alkelai ,Ronald J Wapner ,Karen Stals ,Majid Alfadhel ,Abdulrahman Faiz Alswaid ,Susanne Bogusch ,Anna Schafer-Kosulya ,Sebastian Vogel ,Philipp Vick ,Axel Schweickert ,Matthew Wakeling ,Anne Moreau de Bellaing ,Aisha M Alshamsi ,Damien Sanlaville ,Hamdi Mbarek ,Chadi Saad ,Sian Ellard ,Frank Eisenhaber ,Kornelia Tripolszki ,Christian Beetz ,Peter Bauer ,Achim Gossler ,Birgit Eisenhaber ,Martin Blum ,Patrice Bouvagnet ,Aida Bertoli-Avella ,Jeanne Amiel ,Christopher T Gordon ,Bruno Reversade

Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome)

截短的 SPAG9 作为一种新综合征的新候选基因:粗糙面部特征、白化病、白内障和发育迟缓(CACD 综合征)

Majid Alfadhel, Bashayr S Alhubayshi, Muhammad Umair, Ahmed Alfaidi, Deemah Alwadaani, Essra Aloyouni, Safdar Abbas, Abdulkareem Al Abdulrahman, Mohammed Aldrees, Abeer Al Tuwaijri, Ruaa S Alharithy, Abdulaziz Alajlan, Abdulrahman Alswaid, Saad Almohrij, Sultan Al-Khenaizan

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

ACBD6双等位基因变异会导致一种神经发育综合征,伴有进行性且复杂的运动障碍。

Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A; Rudnik-Schöneborn, Sabine; Schatz, Ulrich A; Baggelaar, Marc P; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Pinto Basto, Jorge; Kortüm, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenço, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R; Zaman, Mashaya; Schrader, Tina A; Chung, Wendy K; Guerrini, Renzo; Lupski, James R; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W; Varshney, Gaurav K; Houlden, Henry; Maroofian, Reza

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia

WDR83OS基因的纯合变异会导致伴有高胆汁酸血症的神经发育障碍。

Barish, Scott; Lin, Sheng-Jia; Maroofian, Reza; Gezdirici, Alper; Alhebby, Hamoud; Trimouille, Aurélien; Biderman Waberski, Marta; Mitani, Tadahiro; Huber, Ilka; Tveten, Kristian; Holla, Øystein L; Busk, Øyvind L; Houlden, Henry; Ghayoor Karimiani, Ehsan; Beiraghi Toosi, Mehran; Shervin Badv, Reza; Najarzadeh Torbati, Paria; Eghbal, Fatemeh; Akhondian, Javad; Al Safar, Ayat; Alswaid, Abdulrahman; Zifarelli, Giovanni; Bauer, Peter; Marafi, Dana; Fatih, Jawid M; Huang, Kevin; Petree, Cassidy; Calame, Daniel G; von der Lippe, Charlotte; Alkuraya, Fowzan S; Wali, Sami; Lupski, James R; Varshney, Gaurav K; Posey, Jennifer E; Pehlivan, Davut

Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study

沙特阿拉伯利雅得一家三级医疗中心近亲结婚与单基因疾病发生率的关系:一项为期两年的横断面研究

Alshamlani, Lamia K; Alsulaim, Dana S; Alabbad, Raghad S; Alhoshan, Ahad A; Alkhoder, Joud F; Alsaleh, Norah S; Almannai, Mohammed; Ababneh, Faroug; Algattan, Manal; Alsini, Lojain; Alswaid, Abdulrahman Faiz; Eyaid, Wafaa M; Al Mutairi, Fuad; Umair, Muhammad; Alfadhel, Majid

AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia

AXIN1 双等位基因变异破坏 C 端 DIX 结构域,导致颅骨干骨硬化和髋关节发育不良

Paulien Terhal, Anton J Venhuizen, Davor Lessel, Wen-Hann Tan, Abdulrahman Alswaid, Regina Grün, Hamad I Alzaidan, Simon von Kroge, Nada Ragab, Maja Hempel, Christian Kubisch, Eduardo Novais, Alba Cristobal, Kornelia Tripolszki, Peter Bauer, Björn Fischer-Zirnsak, Rutger A J Nievelstein, Atty van Di

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

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

基因组测序在诊断中的成功应用:来自临床异质性队列的1007例指标病例

Bertoli-Avella, Aida M; Beetz, Christian; Ameziane, Najim; Rocha, Maria Eugenia; Guatibonza, Pilar; Pereira, Catarina; Calvo, Maria; Herrera-Ordonez, Natalia; Segura-Castel, Monica; Diego-Alvarez, Dan; Zawada, Michal; Kandaswamy, Krishna K; Werber, Martin; Paknia, Omid; Zielske, Susan; Ugrinovski, Dimitar; Warnack, Gitte; Kampe, Kapil; Iurașcu, Marius-Ionuț; Cozma, Claudia; Vogel, Florian; Alhashem, Amal; Hertecant, Jozef; Al-Shamsi, Aisha M; Alswaid, Abdulrahman Faiz; Eyaid, Wafaa; Al Mutairi, Fuad; Alfares, Ahmed; Albalwi, Mohammed A; Alfadhel, Majid; Al-Sannaa, Nouriya Abbas; Reardon, Willie; Alanay, Yasemin; Rolfs, Arndt; Bauer, Peter

Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial

卡谷氨酸治疗丙酸血症 (PA) 和甲基丙二酸血症 (MMA) 患者的长期疗效:一项随机临床试验

Alfadhel, Majid; Nashabat, Marwan; Saleh, Mohammed; Elamin, Mohammed; Alfares, Ahmed; Al Othaim, Ali; Umair, Muhammad; Ahmed, Hind; Ababneh, Faroug; Al Mutairi, Fuad; Eyaid, Wafaa; Alswaid, Abdulrahman; Alohali, Lina; Faqeih, Eissa; Almannai, Mohammed; Aljeraisy, Majed; Albdah, Bayan; Hussein, Mohamed A; Rahbeeni, Zuhair; Alasmari, Ali