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

The biomedical landscape of genomic structural variation in the qatari population

卡塔尔人群基因组结构变异的生物医学概况

Aliyev, Elbay; Syed, Najeeb; Visconti, Alessia; Aliyev, Taghi; Belkadi, Aziz; Ghorbani, Mohammadmersad; Rossi, Niccolò; Naeem, Haroon; Gandhi, Geethanjali Devadoss; Thareja, Gaurav; Al-Maraghi, Aljazi; Aamer, Waleed; Ibrahim, Amal Abdulsalam; Shaath, Rulan; Al-Ajli, Farooq Omar; Razali, Rozaimi Mohamad; Sedlazeck, Fritz J; Davila, Sonia; Akil, Ammira; Suhre, Karsten; Mokrab, Younes; Falchi, Mario; Fakhro, Khalid A

Federated single-cell QTL meta-analysis reveals novel disease mechanisms

联合单细胞QTL荟萃分析揭示了新的疾病机制

Kaptijn, Daniel; Michielsen, Lieke; Neavin, Drew; Ripoll-Cladellas, Aida; Alquicira-Hernández, José; Korshevniuk, Maryna; Lee, Jimmy Tsz Hang; Oelen, Roy; Vochteloo, Martijn; Warmerdam, Robert; Ando, Yoshinari; Ban, Maria; Bayaraa, Odmaa; Berg, Marijn; van Blokland, Irene; Considine, Daniel; Dieng, Mame M; Edahiro, Ryuya; Gordon, M Grace; Groot, Hilde E; van der Harst, Pim; Heinig, Matthias; Hon, Chung-Chau; Idaghdour, Youssef; Kathail, Pooja; de Klein, Niek; Li, Wenchao; Li, Yang; Losert, Corinna; Manikanda, Vinu; Moody, Jonathan; Naeem, Haroon; Mokrab, Younes; Nawijn, Martijn C; Netea, Mihai; Niewold, Jelmer; Okada, Yukinori; Sawcer, Stephen; Soulama, Issiaka; Stegle, Oliver; Tsepilov, Yakov; Park, Woong-Yang; Rajagopalan, Deepa; Shahin, Tala; Shin, Jay W; Trynka, Gosia; Võsa, Urmo; Westra, Harm-Jan; Yazar, Seyhan; Ye, Jimmie; Zhang, Zhenhua; Hemberg, Martin; Mahfouz, Ahmed; Melé, Marta; Powell, Joseph E; Bonder, Marc Jan; Franke, Lude; van der Wijst, Monique G P

Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery

近乎完整的中东基因组有助于更精确地确定纯合性,并增强致病变异和人群特异性变异的发现。

Mohammadmersad Ghorbani ,Shabir Moosa ,Zenab Siddig ,Radi Farhad ,Haroon Naeem ,William T Harvey ,Francesco Kumara Mastrorosa ,Katherine M Munson ,Rozaimi Mohamad Razali ,Elbay Aliyev ,Ilhame Diboun ,Rawan Abouelhassan ,Melissa Tauro ,Sondoss Hassan ,Rebecca Mathew ,Muna Al Hashmi ,Lisa S Mathew ,Kun Wang ,Abdul Rahman Salhab ,Fazulur Rehaman Vempalli ,Ahmed El Khouly ,Sara Tomei ,Khalid A Fakhro ,Alia Satti ,Ruba Benini ,Arang Rhie ,Evan E Eichler ,Younes Mokrab

The quest for a complete understanding of the human genome

探索人类基因组的全貌

Abou Tayoun, Ahmad; Ali, Hamad; Mokrab, Younes

Burden of Mendelian disorders in a large Middle Eastern biobank

中东大型生物样本库中孟德尔遗传病的负担

Aamer, Waleed; Al-Maraghi, Aljazi; Syed, Najeeb; Gandhi, Geethanjali Devadoss; Aliyev, Elbay; Al-Kurbi, Alya A; Al-Saei, Omayma; Kohailan, Muhammad; Krishnamoorthy, Navaneethakrishnan; Palaniswamy, Sasirekha; Al-Malki, Khulod; Abbasi, Saleha; Agrebi, Nourhen; Abbaszadeh, Fatemeh; Akil, Ammira S Al-Shabeeb; Badii, Ramin; Ben-Omran, Tawfeg; Lo, Bernice; Mokrab, Younes; Fakhro, Khalid A

Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study

卡塔尔自闭症谱系障碍的基因组结构:BARAKA-Qatar 研究

Abdi, Mona; Aliyev, Elbay; Trost, Brett; Kohailan, Muhammad; Aamer, Waleed; Syed, Najeeb; Shaath, Rulan; Gandhi, Geethanjali Devadoss; Engchuan, Worrawat; Howe, Jennifer; Thiruvahindrapuram, Bhooma; Geng, Melissa; Whitney, Joe; Syed, Amira; Lakshmi, Jyothi; Hussein, Sura; Albashir, Najwa; Hussein, Amal; Poggiolini, Ilaria; Elhag, Saba F; Palaniswamy, Sasirekha; Kambouris, Marios; de Fatima Janjua, Maria; Tahir, Mohamed O El; Nazeer, Ahsan; Shahwar, Durre; Azeem, Muhammad Waqar; Mokrab, Younes; Aati, Nazim Abdel; Akil, Ammira; Scherer, Stephen W; Kamal, Madeeha; Fakhro, Khalid A

Statistical methods and resources for biomarker discovery using metabolomics

利用代谢组学进行生物标志物发现的统计方法和资源

Anwardeen, Najeha R; Diboun, Ilhame; Mokrab, Younes; Althani, Asma A; Elrayess, Mohamed A

Familial long-read sequencing increases yield of de novo mutations.

家族长读长测序可提高新发突变的检出率

Noyes Michelle D, Harvey William T, Porubsky David, Sulovari Arvis, Li Ruiyang, Rose Nicholas R, Audano Peter A, Munson Katherine M, Lewis Alexandra P, Hoekzema Kendra, Mantere Tuomo, Graves-Lindsay Tina A, Sanders Ashley D, Goodwin Sara, Kramer Melissa, Mokrab Younes, Zody Michael C, Hoischen Alexander, Korbel Jan O, McCombie W Richard, Eichler Evan E

Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank

评估中东大型生物样本库中家族性高胆固醇血症的遗传负担

Gandhi, Geethanjali Devadoss; Aamer, Waleed; Krishnamoorthy, Navaneethakrishnan; Syed, Najeeb; Aliyev, Elbay; Al-Maraghi, Aljazi; Kohailan, Muhammad; Alenbawi, Jamil; Elanbari, Mohammed; Mifsud, Borbala; Mokrab, Younes; Abi Khalil, Charbel; Fakhro, Khalid A

Nomograms of human hippocampal volume shifted by polygenic scores

人类海马体积列线图受多基因评分的影响

Janahi, Mohammed; Aksman, Leon; Schott, Jonathan M; Mokrab, Younes; Altmann, Andre