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

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

Unraveling molecular interconnections and identifying potential therapeutic targets of significance in obesity-cancer link

揭示肥胖与癌症关联中的分子相互联系,并识别具有重要意义的潜在治疗靶点

Abdulla, Alanoud; Sadida, Hana Q; Jerobin, Jayakumar; Elfaki, Imadeldin; Mir, Rashid; Mirza, Sameer; Singh, Mayank; Macha, Muzafar A; Uddin, Shahab; Fakhro, Khalid; Bhat, Ajaz A; Akil, Ammira S Al-Shabeeb

Mutational disruption of transcription factors binding and regulatory networks in a case of unexplained total fertilization failure

不明原因的完全受精失败病例中,转录因子结合和调控网络的突变破坏。

Ata, Manar; Choucair, Fadi; Djekidel, Mohamed Nadhir; Sousa Esteves, Maria; Al Ali, Fatima; Nawaz, Shoaib; El Taha, Lina; Soloviov, Oleksandr; Sathappan, Abbirami; Aliyev, Elbay; Fakhro, Khalid; Awwad, Johnny; Avella, Matteo A

Biallelic Loss-of-Function Variant in MINPP1 Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.

MINPP1 的双等位基因功能丧失变异导致脑桥小脑发育不全,并伴有特征性的严重神经发育障碍

Al-Maraghi Aljazi, Shaath Rulan, Ford Katherine, Aamer Waleed, AlRayahi Jehan, Hussein Sura, Aliyev Elbay, Agrebi Nourhen, Kohailan Muhammad, Hubrack Satanay Z, Palaniswamy Sasirekha, Kennedy Adam D, DeBalsi Karen L, Elsea Sarah H, Benini Ruba, Ben-Omran Tawfeg, Lo Bernice, Akil Ammira S A, Fakhro Khalid A

Refining Risk Stratification and Surveillance Strategies in Pleuropulmonary Solitary Fibrous Tumors-An International, Retrospective, Multicenter Analysis

优化胸膜肺孤立性纤维瘤的风险分层和监测策略——一项国际回顾性多中心分析

Decker, Rahel S; Baum, Daniel; Richter, Stephan; Zaatar, Mohamed; Welter, Stefan; Schreiner, Waldemar; Deniz, Merve; Koryllos, Aris; Fakhro, Mohammed; Petersen, René Horsleben; Fruhmann, Nina; Aigner, Clemens; Minerva, Eleonora; Opitz, Isabelle; Plönes, Till

Genetic counseling in the Middle East: provider perspectives of patient attitudes and cultural challenges

中东地区的遗传咨询:医护人员对患者态度和文化挑战的看法

Shenbagam, Shruti; Taylor, Alan; Jain, Ruchi; Fakhro, Khalid; Alkuraya, Fowzan; Abou Tayoun, Ahmad

Artificial Intelligence in Bariatric Surgery: Optimizing Personalized Decision-Making, Predictive Monitoring, and Postoperative Outcomes

人工智能在减肥手术中的应用:优化个性化决策、预测性监测和术后结果

Elzayyat, Maram; Kermansaravi, Mohammad; Fakhro, Jassim; Kassir, Radwan

Functional Interpretation of a Novel Homozygous METTL5 Variant Associated with ADHD and Neurodevelopmental Abnormalities: A Case Report and Literature Review

一种与注意力缺陷多动障碍和神经发育异常相关的新型纯合METTL5变异的功能解释:病例报告和文献综述

Hashem, Sheema; Elhag, Saba F; Bhat, Ajaz A; Aamer, Waleed; Al-Maraghi, Aljazi; Alhaboub, Hala; Abuthaher, Dalya; Akil, Ammira S Al-Shabeeb; Haris, Mohammad; Fakhro, Khalid; Nemer, Georges; Kamal, Madeeha

Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report

长读长测序在一名患有科芬-西里斯综合征8型的儿科患者中发现了SMARCC2基因的新型从头倒位:病例报告

Ibrahim, Amal Abdulsalam; Aamer, Waleed; Aliyev, Elbay; Al-Maraghi, Aljazi; Elhag, Saba F; Abdi, Mona; Syed, Najeeb; Palaniswamy, Sasirekha; Akil, Ammira S A; Kamal, Madeeha; Fakhro, Khalid A