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

A child with dilated cardiomyopathy and homozygous splice site variant in FLNC gene

一名患有扩张型心肌病且FLNC基因存在纯合剪接位点变异的儿童

Alsubhi, Afaf; Aldarwish, Manar; Agrawal, Pankaj B; Al Tala, Saeed M; Eldadah, Osama; Alghamdi, Abdulla A; Silmi, Amal; Almannai, Mohammed

A Novel Variant of GP9 Gene Resulting in Bernard-Soulier Syndrome: A Case Report

GP9基因新变异导致伯纳德-苏利埃综合征:病例报告

Alasmari, Badriah G; Alqahtani, Sameer M Sr; Alabbas, Ali; Saeed, Muhammad; Elzubair, Lina; Alqahtani, Fahad S; Alasmari, Hind R; Alrezqi, Wafa A; Al-Tala, Saeed M

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

超越外显子组:长读全基因组测序在外显子组阴性常染色体隐性遗传疾病中的应用

Lama AlAbdi, Hanan E Shamseldin, Ebtissal Khouj, Rana Helaby, Bayan Aljamal, Mashael Alqahtani, Aisha Almulhim, Halima Hamid, Mais O Hashem, Firdous Abdulwahab, Omar Abouyousef, Amal Jaafar, Tarfa Alshidi, Mohammed Al-Owain, Amal Alhashem, Saeed Al Tala, Arif O Khan, Elham Mardawi, Hisham Alkuraya, 

Hemophagocytic Lymphohistiocytosis (HLH) Due to Fulminant Salmonella Sepsis in the Setting of IL12Rβ1 (Interleukin 12 Receptor Beta 1) Deficiency

IL12Rβ1(白细胞介素 12 受体 β1)缺乏症背景下由暴发性沙门氏菌败血症引起的噬血细胞性淋巴组织细胞增生症 (HLH)

Alabbas, Ali; Alasmari, Badriah G; Saeed, Muhammad; Al-Tala, Saeed M; Abualama, Ayman E

LAD-III, a Mild Phenotype Resulting From a Novel Variant of FERMT3 Gene: A Case Report

LAD-III,一种由FERMT3基因新变异引起的轻型表型:病例报告

Alasmari, Badriah G; Alomari, Mohammed; Alotaibi, Wejdan N; Hommadi, Ashwaq; Elmugadam, Abdelhakam A; Abdalla, Khalid; Al-Tala, Saeed M

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

THUMPD1 双等位基因变异导致 tRNA 乙酰化丧失和综合征性神经发育障碍

Martin Broly, Bogdan V Polevoda, Kamel M Awayda, Ning Tong, Jenna Lentini, Thomas Besnard, Wallid Deb, Declan O'Rourke, Julia Baptista, Sian Ellard, Mohammed Almannai, Mais Hashem, Ferdous Abdulwahab, Hanan Shamseldin, Saeed Al-Tala, Fowzan S Alkuraya, Alberta Leon, Rosa L E van Loon, Alessandra Fer

Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy

COX11 的双等位基因致病变异与婴儿期发病的线粒体脑病有关

Rocio Rius, Neal K Bennett, Kaustuv Bhattacharya, Lisa G Riley, Zafer Yüksel, Luke E Formosa, Alison G Compton, Russell C Dale, Mark J Cowley, Velimir Gayevskiy, Saeed M Al Tala, Abdulrahman A Almehery, Michael T Ryan, David R Thorburn, Ken Nakamura, John Christodoulou

Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.

组蛋白连接子 H1-4 的突变与神经发育障碍及表达 C 端移码突变体 H1.4 的神经元的功能特征

Tremblay Martine W, Green Matthew V, Goldstein Benjamin M, Aldridge Andrew I, Rosenfeld Jill A, Streff Haley, Tan Wendy D, Craigen William, Bekheirnia Nasim, Al Tala Saeed, West Anne E, Jiang Yong-Hui

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

HPDL基因的双等位基因变异会导致纯粹型和复杂性遗传性痉挛性截瘫。

Manuela Wiessner,Reza Maroofian,Meng-Yuan Ni,Andrea Pedroni,Juliane S Müller,Rolf Stucka,Christian Beetz,Stephanie Efthymiou,Filippo M Santorelli,Ahmed A Alfares,Changlian Zhu,Isabella Ceccherini,Michele Iacomino,Federico Zara,Vincenzo Salpietro,Marcello Scala,Marta Rusmini,Yiran Xu,Yinghong Wang,Yasuhiro Suzuki,Kishin Koh,Haitian Nan,Hiroyuki Ishiura,Shoji Tsuji,Laëtitia Lambert,Emmanuelle Schmitt,Elodie Lacaze,Hanna Küpper,David Dredge,Cara Skraban,Amy Goldstein,Mary J H Willis,Katheryn Grand,John M Graham,Richard A Lewis,Francisca Millan,Özgür Duman,Nihal Dündar,Gökhan Uyanik,Ludger Schöls,Peter Nürnberg,Gudrun Nürnberg,Andrea Catala Bordes,Pavel Seeman,Martin Kuchar,Hossein Darvish,Adriana Rebelo,Filipa Bouçanova,Jean-Jacques Medard,Roman Chrast,Michaela Auer-Grumbach,Fowzan S Alkuraya,Hanan Shamseldin,Saeed Al Tala,Jamileh Rezazadeh Varaghchi,Maryam Najafi,Selina Deschner,Dieter Gläser,Wolfgang Hüttel,Michael C Kruer,Erik-Jan Kamsteeg,Yoshihisa Takiyama,Stephan Züchner,Jonathan Baets,Rebecca Schüle,Rita Horvath,Henry Houlden,Luca Bartesaghi,Hwei-Jen Lee,Konstantinos Ampatzis,Tyler Mark Pierson,Jan Senderek