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

ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration

ADAT3 变体破坏 ADAT tRNA 脱氨酶复合物的活性,并损害神经元迁移。

Del-Pozo-Rodriguez, Jordi; Tilly, Peggy; Lecat, Romain; Vaca, Hugo Rolando; Mosser, Laureline; Brivio, Elena; Balla, Till; Gomes, Marina Vitoria; Ramos-Morales, Elizabeth; Schwaller, Noémie; Salinas-Giegé, Thalia; VanNoy, Grace; England, Eleina M; Kern Lovgren, Alysia; O'Leary, Melanie; Chopra, Maya; Meave Ojeda, Naomi; Toosi, Mehran Beiraghi; Eslahi, Atieh; Alerasool, Masoome; Mojarrad, Majid; Pais, Lynn S; Yeh, Rebecca C; Gable, Dustin L; Hashem, Mais O; Abdulwahab, Firdous; Rakiz Alqurashi, Muath; Sbeih, Loai Z; Adas Blanco, Omar Abu; Khater, Renad Abu; Oprea, Gabriela; Rad, Aboulfazl; Alzaidan, Hamad; Aldhalaan, Hesham; Tous, Ehab; Alsagheir, Afaf; Alowain, Mohammed; Tamim, Abdullah; Alfayez, Khowlah; Alhashem, Amal; Alnuzha, Aisha; Kamel, Mona; Al-Awam, Bashayer S; Elnaggar, Walaa; Almenabawy, Nihal; O'Donnell-Luria, Anne; Neil, Jennifer E; Gleeson, Joseph G; Walsh, Christopher A; Alkuraya, Fowzan S; AlAbdi, Lama; Elkhateeb, Nour; Selim, Laila; Srivastava, Siddharth; Nedialkova, Danny D; Drouard, Laurence; Romier, Christophe; Bayam, Efil; Godin, Juliette D

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

Structure-Activity Analysis Reveals Perturbed Cilia-Jun N-Terminal Kinase Signaling in MAPKBP1-Associated Kidney Disease

结构-活性分析揭示MAPKBP1相关肾病中纤毛-Jun N端激酶信号传导紊乱

Findeisen, Christin; Papazian, Maria; Pöschla, Linda; Ertel, Anastasia; Jin, Wenjun; Panitz, Nydia; Hantmann, Elena; Coucke, Paul; Abdulwahab, Firdous; AlAbdi, Lama; Alkuraya, Fawzan S; Salem, May; Alzaidan, Hamad; Eckardt, Kai-Uwe; Christensen, Søren T; Benmerah, Alexandre; Saunier, Sophie; Halbritter, Jan; Schönauer, Ria

Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness

SPTBN4相关神经发育障碍伴肌张力低下、神经病变和耳聋的自然史

AlQudairy, Hanan; AlMuhaizea, Mohammad A; Tohary, Mohamed; Alfuraih, Maissa; Alnafisah, Aisha; AlHargan, Aljouhra; Albader, Anoud; Jaber, Hadeel; Almass, Rawan; Albakheet, Albandary; Alsheddi, Terfa; AlObeid, Eman; Alrasheed, Maha M; Al-Odaib, Ali; AlZaidan, Hamad; AlSayed, Moeenaldeen D; Kaya, Namik

Autosomal Recessive Spastic Paraplegia and Psychomotor Retardation With or Without Seizures: A Case Report From Saudi Arabia

沙特阿拉伯一例常染色体隐性遗传性痉挛性截瘫和精神运动发育迟缓(伴或不伴癫痫发作)病例报告

Alzaidan, Hamd; Alluhaybi, Bashaer; Albulayhid, Naif A; Al-Jabr, Khalid H; Alotaibi, Faihan T; Alqahtani, Assem

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

EZH1基因的功能获得性变异和功能丧失性变异会破坏神经发生,并导致显性和隐性神经发育障碍。

Carolina Gracia-Diaz,Yijing Zhou,Qian Yang #,Reza Maroofian #,Paula Espana-Bonilla #,Chul-Hwan Lee,Shuo Zhang,Natàlia Padilla,Raquel Fueyo,Elisa A Waxman,Sunyimeng Lei,Garrett Otrimski,Dong Li,Sarah E Sheppard,Paul Mark,Margaret H Harr,Hakon Hakonarson,Lance Rodan ,Adam Jackson ,Pradeep Vasudevan,Corrina Powel,Shehla Mohammed,Sateesh Maddirevula,Hamad Alzaidan,Eissa A Faqeih,Stephanie Efthymiou,Valentina Turchetti,Fatima Rahman , Shazia Maqbool , Vincenzo Salpietro,Shahnaz H Ibrahim , Gabriella di Rosa , Henry Houlden,Maha Nasser Alharbi , Nouriya Abbas Al-Sannaa , Peter Bauer , Giovanni Zifarelli , Conchi Estaras , Anna C E Hurst , Michelle L Thompson , Anna Chassevent , Constance L Smith-Hicks  ,Xavier de la Cruz  ,Alexander M Holtz,Houda Zghal Elloumi , M J Hajianpour , Claudine Rieubland , Dominique Braun , Siddharth Banka    ; Genomic England Research Consortium; Deborah L French,Elizabeth A Heller,Murielle Saade,Hongjun Song,Guo-Li Ming,Fowzan S Alkuraya  ,Pankaj B Agrawal  ,Danny Reinberg , Elizabeth J Bhoj,Marian A Martínez-Balbás,Naiara Akizu

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

Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature

沙特阿拉伯家族中SLC13A5变异体的临床、放射学和遗传学特征:基因型表型相关性及文献简述

AlQudairy, Hanan; AlDhalaan, Hesham; AlRuways, Sarah; AlMutairi, Nouf; AlNakiyah, Maha; AlGhofaili, Reema; AlBakheet, Albandary; Alomrani, Adeeb; Alharbi, Omar A; Tous, Ehab; AlSayed, Moeen; AlZaidan, Hamad; AlRasheed, Maha M; AlOdaib, Ali; Kaya, Namik

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking

HOPS复合物亚基VPS41的双等位基因变异会导致小脑共济失调和膜转运异常。

Sanderson, Leslie E; Lanko, Kristina; Alsagob, Maysoon; Almass, Rawan; Al-Ahmadi, Nada; Najafi, Maryam; Al-Muhaizea, Mohammad A; Alzaidan, Hamad; AlDhalaan, Hesham; Perenthaler, Elena; van der Linde, Herma C; Nikoncuk, Anita; Kühn, Nikolas A; Antony, Dinu; Owaidah, Tarek Mustafa; Raskin, Salmo; Vieira, Luana Gabriela Dalla Rosa; Mombach, Romulo; Ahangari, Najmeh; Silveira, Tainá Regina Damaceno; Ameziane, Najim; Rolfs, Arndt; Alharbi, Aljohara; Sabbagh, Raghda M; AlAhmadi, Khalid; Alawam, Bashayer; Ghebeh, Hazem; AlHargan, Aljouhra; Albader, Anoud A; Binhumaid, Faisal S; Goljan, Ewa; Monies, Dorota; Mustafa, Osama M; Aldosary, Mazhor; AlBakheet, Albandary; Alyounes, Banan; Almutairi, Faten; Al-Odaib, Ali; Aksoy, Durdane Bekar; Basak, A Nazli; Palvadeau, Robin; Trabzuni, Daniah; Rosenfeld, Jill A; Karimiani, Ehsan Ghayoor; Meyer, Brian F; Karakas, Bedri; Al-Mohanna, Futwan; Arold, Stefan T; Colak, Dilek; Maroofian, Reza; Houlden, Henry; Bertoli-Avella, Aida M; Schmidts, Miriam; Barakat, Tahsin Stefan; van Ham, Tjakko J; Kaya, Namik

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

BCAS3基因的双等位基因功能缺失变异会导致一种综合征性神经发育障碍

Hengel, Holger; Hannan, Shabab B; Dyack, Sarah; MacKay, Sara B; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S; Alzaidan, Hamad; Alsaif, Hessa S; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R; Gleeson, Joseph J; Dehghani, Mohammadreza; Mehrjardi, Mohammad Y V; Sherr, Elliott H; Parks, Kendall C; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A; Pagnamenta, Alistair T; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Rieß, Angelika; Haack, Tobias B; Nägele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schöls, Ludger