Publications by authors named "Elbay Aliyev"

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Mutational disruption of transcription factors binding and regulatory networks in a case of unexplained total fertilization failure.
Manar Ata, Fadi Choucair, Mohamed Nadhir Djekidel, Maria Sousa Esteves, Fatima Al Ali, Elbay Aliyev

J Transl Med· November 2025

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Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.
Amal Abdulsalam Ibrahim, Waleed Aamer, Elbay Aliyev, Aljazi Al-Maraghi, Saba F Elhag

BMC Med Genomics· November 2025

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Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy.
Kohji Kato, Yosuke Nishio, Kirsty J McMillan, Aljazi Al-Maraghi, Hester Y Kroes, Elbay Aliyev

Sci Transl Med· July 2025

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Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery.
Mohammadmersad Ghorbani, Shabir Moosa, Zenab Siddig, Radi Farhad, Haroon Naeem, Elbay Aliyev

Nat Genet· May 2025

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Biallelic Loss-of-Function Variant in Causes Pontocerebellar Hypoplasia with Characteristic Severe Neurodevelopmental Disorder.
Aljazi Al-Maraghi, Rulan Shaath, Katherine Ford, Waleed Aamer, Jehan AlRayahi, Elbay Aliyev

Int J Mol Sci· May 2025

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Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank.
Geethanjali Devadoss Gandhi, Elbay Aliyev, Najeeb Syed, Fazulur Rehaman Vempalli, Chadi Saad

Genet Med· December 2024

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Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study.
Niccolò Rossi, Najeeb Syed, Alessia Visconti, Elbay Aliyev, Sarah Berry

NPJ Genom Med· June 2024

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Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
Omayma Al-Saei, Samantha Malka, Nicholas Owen, Elbay Aliyev, Fazulur Rehaman Vempalli

BMC Genomics· May 2024

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Burden of Mendelian disorders in a large Middle Eastern biobank.
Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev

Genome Med· April 2024

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A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.
Aljazi Al-Maraghi, Waleed Aamer, Mubarak Ziab, Elbay Aliyev, Najwa Elbashir

BMC Nephrol· April 2024

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Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
Mona Abdi, Elbay Aliyev, Brett Trost, Muhammad Kohailan, Waleed Aamer

Genome Med· October 2023

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The link between glycemic control measures and eye microvascular complications in a clinical cohort of type 2 diabetes with microRNA-223-3p signature.
Sahar I Da'as, Ikhlak Ahmed, Waseem H Hasan, Doua A Abdelrahman, Elbay Aliyev

J Transl Med· March 2023

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A Complex Intrachromosomal Rearrangement Disrupting in a Family with Popliteal Pterygium and Van der Woude Syndromes.
Alya A Al-Kurbi, Elbay Aliyev, Sana AlSa'afin, Waleed Aamer, Sasirekha Palaniswamy

Genes (Basel)· March 2023

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Network-based identification and prioritization of key transcriptional factors of diabetic kidney disease.
Ikhlak Ahmed, Mubarak Ziab, Sahar Da'as, Waseem Hasan, Sujitha P Jeya, Elbay Aliyev

Comput Struct Biotechnol J· January 2023

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Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
Geethanjali Devadoss Gandhi, Waleed Aamer, Navaneethakrishnan Krishnamoorthy, Najeeb Syed, Elbay Aliyev

J Transl Med· November 2022

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Genomic architecture of autism from comprehensive whole-genome sequence annotation.
Brett Trost, Bhooma Thiruvahindrapuram, Ada J S Chan, Worrawat Engchuan, Edward J Higginbotham, Elbay Aliyev

Cell· November 2022

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The third international hackathon for applying insights into large-scale genomic composition to use cases in a wide range of organisms.
Kimberly Walker, Divya Kalra, Rebecca Lowdon, Guangyi Chen, David Molik, Elbay Aliyev

F1000Res· October 2022

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Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.
Daniele Merico, Yehonatan Pasternak, Mehdi Zarrei, Edward J Higginbotham, Bhooma Thiruvahindrapuram, Elbay Aliyev

NPJ Genom Med· November 2021

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An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates.
Ann M Mc Cartney, Medhat Mahmoud, Michael Jochum, Daniel Paiva Agustinho, Barry Zorman, Elbay Aliyev

F1000Res· October 2021

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Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes.
Rozaimi Mohamad Razali, Juan Rodriguez-Flores, Mohammadmersad Ghorbani, Haroon Naeem, Waleed Aamer, Elbay Aliyev

Nat Commun· October 2021

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Diagnosis and treatment of type 1 diabetes at the dawn of the personalized medicine era.
Ammira Al-Shabeeb Akil, Esraa Yassin, Aljazi Al-Maraghi, Elbay Aliyev, Khulod Al-Malki

J Transl Med· April 2021

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Ethnic-specific association of amylase gene copy number with adiposity traits in a large Middle Eastern biobank.
Niccolo' Rossi, Elbay Aliyev, Alessia Visconti, Ammira S A Akil, Najeeb Syed

NPJ Genom Med· February 2021

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Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling.
Meenakshi Umar, Andre Megarbane, Jingxuan Shan, Najeeb Syed, Eliane Chouery, Elbay Aliyev

J Cell Mol Med· October 2020

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