Fazulur Rehaman Vempalli
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View article: #ECR-Poster-03 Interrogation of open-access RNA-sequencing datasets of anterior segment tissues to potentially identify novel childhood glaucoma genes
#ECR-Poster-03 Interrogation of open-access RNA-sequencing datasets of anterior segment tissues to potentially identify novel childhood glaucoma genes Open
View article: Impact of the tumor immune contexture in microsatellite-stable metastatic colorectal cancer treated with avelumab, cetuximab, and irinotecan
Impact of the tumor immune contexture in microsatellite-stable metastatic colorectal cancer treated with avelumab, cetuximab, and irinotecan Open
The treatment of patients with microsatellite-stable (MSS) metastatic colorectal cancer (mCRC) remains a significant clinical challenge. Cetuximab, an anti-epidermal growth factor receptor (EGFR) monoclonal antibody (mAb), induces immunoge…
View article: Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery
Near-complete Middle Eastern genomes refine autozygosity and enhance disease-causing and population-specific variant discovery Open
View article: Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank
Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank Open
Population-based studies of treatable IMDs, particularly in globally under-studied populations, can identify high-frequency alleles segregating in the community and inform public health policies, including carrier and newborn screening.
View article: Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants Open
View article: ADH1B, the adipocyte-enriched alcohol dehydrogenase, plays an essential, cell-autonomous role in human adipogenesis
ADH1B, the adipocyte-enriched alcohol dehydrogenase, plays an essential, cell-autonomous role in human adipogenesis Open
Alcohol dehydrogenase 1B (ADH1B) is a primate-specific enzyme which, uniquely among the ADH class 1 family, is highly expressed both in adipose tissue and liver. Its expression in adipose tissue is reduced in obesity and increased by insul…
View article: Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project Open
Childhood glaucoma (CG) encompasses a heterogeneous group of genetic eye disorders that is responsible for approximately 5% of childhood blindness worldwide. Understanding the molecular aetiology is key to improving diagnosis, prognosis an…
View article: Burden of Mendelian disorders in a large Middle Eastern biobank
Burden of Mendelian disorders in a large Middle Eastern biobank Open
View article: Upregulation of interferon signaling predicts sustained complete remission in pediatric AML patients
Upregulation of interferon signaling predicts sustained complete remission in pediatric AML patients Open
The immunological composition of the microenvironment has shown relevance for diagnosis, prognosis, and therapy in solid tumors, while it remains underexplored in acute leukemias. In this study, we investigated the significance of the acut…
View article: P026: The genetic spectrum of treatable inherited metabolic disorders identified in a large Middle Eastern biobank
P026: The genetic spectrum of treatable inherited metabolic disorders identified in a large Middle Eastern biobank Open
An inherited metabolic disorder (IMD) or "inborn error of metabolism" (IEM) occurs when there is an enzyme deficiency caused by an underlying genetic defect, which affects the metabolic pathway. Currently, there are around 1,400 IMDs descr…
View article: 2237P Avelumab (AVE), cetuximab (CET) and irinotecan (IRI) for treatment refractory microsatellite stable (MSS) metastatic colorectal cancer (mCRC): Translational analyses of the AVETUXIRI phase II trial
2237P Avelumab (AVE), cetuximab (CET) and irinotecan (IRI) for treatment refractory microsatellite stable (MSS) metastatic colorectal cancer (mCRC): Translational analyses of the AVETUXIRI phase II trial Open
View article: Author Correction: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
Author Correction: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk Open
View article: Technical assessment of different extraction methods and transcriptome profiling of RNA isolated from small volumes of blood
Technical assessment of different extraction methods and transcriptome profiling of RNA isolated from small volumes of blood Open
Transcriptome profiling of human whole blood is used to discover biomarkers of diseases and to assess phenotypic traits. Recently, finger-stick blood collection systems have allowed a less invasive and quicker collection of peripheral bloo…
View article: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk Open
View article: Supplementary Data AC-ICAM
Supplementary Data AC-ICAM Open
Supplementary data for the AC-ICAM manuscript.
View article: High–temporal resolution profiling reveals distinct immune trajectories following the first and second doses of COVID-19 mRNA vaccines
High–temporal resolution profiling reveals distinct immune trajectories following the first and second doses of COVID-19 mRNA vaccines Open
Knowledge of the mechanisms underpinning the development of protective immunity conferred by mRNA vaccines is fragmentary. Here, we investigated responses to coronavirus disease 2019 (COVID-19) mRNA vaccination via high–temporal resolution…
View article: Transcriptome sequencing of RNA isolated from small volumes of blood stabilized in Tempus solution: a technical assessment of different extraction methods and DNase treatment
Transcriptome sequencing of RNA isolated from small volumes of blood stabilized in Tempus solution: a technical assessment of different extraction methods and DNase treatment Open
Transcriptome profiling of human whole blood is used to discover biomarkers of diseases and to assess phenotypic traits. RNA sequencing technologies offer many advantages for transcriptomic profiling over other technologies, including the …
View article: Interim analysis of the phase II AVETUXIRI trial: Avelumab combined with cetuximab and irinotecan for treatment of refractory microsatellite stable (MSS) metastatic colorectal cancer (mCRC).
Interim analysis of the phase II AVETUXIRI trial: Avelumab combined with cetuximab and irinotecan for treatment of refractory microsatellite stable (MSS) metastatic colorectal cancer (mCRC). Open
3595 Background: Immune checkpoint inhibitors demonstrated poor efficacy in MSS mCRC. Cetuximab (anti-EGFR inhibitor) could initiate, independently from RAS mutation, an immunogenic tumor cell death and mediate antitumor immune response. I…
View article: Analysis of incidental findings in Qatar genome participants reveals novel functional variants in <i>LMNA</i> and <i>DSP</i>
Analysis of incidental findings in Qatar genome participants reveals novel functional variants in <i>LMNA</i> and <i>DSP</i> Open
In order to report clinically actionable incidental findings in genetic testing, the American College of Medical Genetics and Genomics (ACMG) recommended the evaluation of variants in 59 genes associated with highly penetrant mutations. Ho…
View article: A population study of clinically actionable genetic variation affecting drug response from the Middle East
A population study of clinically actionable genetic variation affecting drug response from the Middle East Open
View article: High temporal resolution systems profiling reveals distinct patterns of interferon response after Covid-19 mRNA vaccination and SARS-CoV2 infection
High temporal resolution systems profiling reveals distinct patterns of interferon response after Covid-19 mRNA vaccination and SARS-CoV2 infection Open
Knowledge of the mechanisms underpinning the development of protective immunity conferred by mRNA vaccines is fragmentary. Here we investigated responses to COVID-19 mRNA vaccination via ultra-low-volume sampling and high-temporal-resoluti…
View article: Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes
Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes Open
View article: Actionable genomic variants in 6045 participants from the Qatar Genome Program
Actionable genomic variants in 6045 participants from the Qatar Genome Program Open
In a clinical setting, DNA sequencing can uncover findings unrelated to the purpose of genetic evaluation. The American College of Medical Genetics and Genomics (ACMG) recommends the evaluation and reporting of 59 genes from clinic genomic…
View article: Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs
Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs Open
Background Hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are serious inherited heart diseases with various causative mutations identified. The full spectrum of causative mutations remains to be discovered, especially i…
View article: Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits
Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits Open