Publications by authors named "Najeeb Syed"

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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, Najeeb Syed

BMC Med Genomics· November 2025

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Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.
Antoni Riera-Escamilla, Mohamed M Arafa, Ginevra Farnetani, Miguel J Xavier, Manon S Oud, Najeeb Syed

Hum Reprod Open· September 2025

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Genetics of Growth Hormone Deficiency: Insights from a Cohort of 203 Patients.
Ana Cláudia Ribeiro, Eduarda Coutinho, Najeeb Syed, Margarida Bastos, Conceição Bacelar

J Clin Endocrinol Metab· June 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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Whole-exome profiles of inflammatory breast cancer and pathological response to neoadjuvant chemotherapy.
François Bertucci, Arnaud Guille, Florence Lerebours, Michele Ceccarelli, Najeeb Syed

J Transl Med· October 2024

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Genetic architecture of congenital hypogonadotropic hypogonadism: insights from analysis of a Portuguese cohort.
Josianne Nunes Carriço, Catarina Inês Gonçalves, Asma Al-Naama, Najeeb Syed, José Maria Aragüés

Hum Reprod Open· September 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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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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Mutational landscape of inflammatory breast cancer.
François Bertucci, Florence Lerebours, Michele Ceccarelli, Arnaud Guille, Najeeb Syed

J Transl Med· April 2024

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A variant in sperm-specific glycolytic enzyme enolase 4 (ENO4) causes human male infertility.
Shoaib Nawaz, Shabir Hussain, Muhammad Bilal, Najeeb Syed, Khurram Liaqat

J Gene Med· January 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, Najeeb Syed, Amira Syed

Genome Med· October 2023

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Transcription factor combinations that define human astrocyte identity encode significant variation of maturity and function.
Koby Baranes, Nataly Hastings, Saifur Rahman, Noah Poulin, Joana M Tavares, Najeeb Syed

Glia· August 2023

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An integrated tumor, immune and microbiome atlas of colon cancer.
Jessica Roelands, Peter J K Kuppen, Eiman I Ahmed, Raghvendra Mall, Tariq Masoodi, Najeeb Syed

Nat Med· May 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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Patterns and distribution of de novo mutations in multiplex Middle Eastern families.
Muhammad Kohailan, Waleed Aamer, Najeeb Syed, Sujitha Padmajeya, Sura Hussein

J Hum Genet· October 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, Najeeb Syed

F1000Res· October 2022

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Understanding the Role of GLUT2 in Dysglycemia Associated with Fanconi-Bickel Syndrome.
Sanaa Sharari, Basirudeen Kabeer, Idris Mohammed, Basma Haris, Igor Pavlovski, Najeeb Syed

Biomedicines· August 2022

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Sib-pair subgroup familial type 1 diabetes mellitus in children in the state of Qatar.
Houda Afyouni, Basma Haris, Najeeb Syed, Ikhlak Ahmed, Noor Hamed

PLoS One· July 2022

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Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.
Sarah Okashah, Dhanya Vasudeva, Aya El Jerbi, Houssein Khodjet-El-Khil, Mashael Al-Shafai, Najeeb Syed

Genes (Basel)· July 2022

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Understanding the Mechanism of Dysglycemia in a Fanconi-Bickel Syndrome Patient.
Sanaa Sharari, Mustapha Aouida, Idris Mohammed, Basma Haris, Ajaz Ahmad Bhat, Najeeb Syed

Front Endocrinol (Lausanne)· June 2022

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The Spectrum of Genetic Variants Associated with the Development of Monogenic Obesity in Qatar.
Nadien AbouHashem, Roan E Zaied, Kholoud Al-Shafai, Mariam Nofal, Najeeb Syed

Obes Facts· May 2022

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Neonatal sepsis and mortality in low-income and middle-income countries from a facility-based birth cohort: an international multisite prospective observational study.
Rebecca Milton, David Gillespie, Calie Dyer, Khadijeh Taiyari, Maria J Carvalho, Syed U Najeeb

Lancet Glob Health· May 2022

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Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study.
Mohamad Saad, Younes Mokrab, Najeeb Halabi, Jingxuan Shan, Rozaimi Razali, Najeeb Syed

Lancet Oncol· March 2022

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A population study of clinically actionable genetic variation affecting drug response from the Middle East.
Puthen Veettil Jithesh, Mohammed Abuhaliqa, Najeeb Syed, Ikhlak Ahmed, Mohammed El Anbari

NPJ Genom Med· February 2022

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The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Juan L Rodriguez-Flores, Radja Messai-Badji, Amal Robay, Ramzi Temanni, Najeeb Syed

NPJ Genom Med· January 2022

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