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Most cited papers from Al Jalila Foundation

What are the most cited papers from Al Jalila Foundation?

The most cited paper from Al Jalila Foundation is "A draft human pangenome reference" (Wen‐Wei Liao et al., 2023), with 1,231 citations. Next come "Reactive oxygen species and cancer paradox: To promote or to suppress?" (902) and "Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework" (662).

Showing 50 of 60 papers. Every paper with more than 28 citations is listed.

Most cited papers, sortable by citations and release date
#Paper
1 A draft human pangenome reference Wen‐Wei Liao et al. · Nature Open access119 authors 10 May 2023 1,231
2 Reactive oxygen species and cancer paradox: To promote or to suppress? Sehamuddin Galadari, Anees Ur Rahman, Siraj Pallichankandy et al. · Free Radical Biology and Medicine 11 Jan 2017 902
3 Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework Sarah E. Brnich, Ahmad Abou Tayoun, Fergus J. Couch et al. · Genome Medicine Open access 31 Dec 2019 662
4 Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1 Sander F. Garrelfs et al. · New England Journal of Medicine Open access 31 Mar 2021 520
5 Human genetic and immunological determinants of critical COVID-19 pneumonia Qian Zhang et al. · Nature Open access163 authors 28 Jan 2022 396
6 Pangenome graph construction from genome alignments with Minigraph-Cactus Glenn Hickey et al. · Nature Biotechnology Open access121 authors 10 May 2023 342
7 Recombination between heterologous human acrocentric chromosomes Andrea Guarracino et al. · Nature Open access123 authors 10 May 2023 153
8 Studying severe long COVID to understand post-infectious disorders beyond COVID-19 Petter Brodin et al. · Nature Medicine Open access107 authors 5 Apr 2022 146
9 Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration Vandana Shashi et al. · The EMBO Journal Open access 12 Nov 2018 134
10 Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort Anne Maria Rochtus, Heather E. Olson, Lacey A. Smith et al. · Epilepsia Open access 19 Jan 2020 131
11 Regulation of Angiotensin- Converting Enzyme 2 in Obesity: Implications for COVID-19 Saba Al Heialy, Mahmood Yaseen Hachim, Abiola Catherine Senok et al. · Frontiers in Physiology Open access 18 Sep 2020 129
12 Increased mutation and gene conversion within human segmental duplications Mitchell R. Vollger et al. · Nature Open access130 authors 10 May 2023 123
13 A Systematic Review and Meta-analysis of Paediatric Inflammatory Bowel Disease Incidence and Prevalence Across Europe Stephen Roberts, Kym Thorne, Nikhil Thapar et al. · Journal of Crohn s and Colitis ReviewOpen access 27 Feb 2020 115
14 The psychological impact of the COVID-19 pandemic on adults and children in the United Arab Emirates: a nationwide cross-sectional study Basema Saddik, Amal M Hussein, Ammar Albanna et al. · BMC Psychiatry Open access 3 May 2021 111
15 Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency Tom Le Voyer et al. · Nature Open access226 authors 8 Nov 2023 110
16 Percutaneous Endoscopic Gastrostomy in Children Matjaž Homan, Bruno Hauser, Claudio Romano et al. · Journal of Pediatric Gastroenterology and Nutrition Open access 21 Jun 2021 101
17 ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs Marina T. DiStefano et al. · Genetics in Medicine Open access 20 Mar 2019 97
18 Host transcriptomic profiling of COVID-19 patients with mild, moderate, and severe clinical outcomes Ruchi P Jain, Sathishkumar Ramaswamy, Divinlal Harilal et al. · Computational and Structural Biotechnology Journal Open access 18 Dec 2020 95
19 Tumor suppressive functions of ceramide: evidence and mechanisms Sehamuddin Galadari, Anees Ur Rahman, Siraj Pallichankandy et al. · APOPTOSIS 21 Feb 2015 95
20 ROS-dependent activation of autophagy is a critical mechanism for the induction of anti-glioma effect of sanguinarine Siraj Pallichankandy, Anees Ur Rahman, Faisal Thayyullathil et al. · Free Radical Biology and Medicine 4 Nov 2015 94
21 Lumasiran for Advanced Primary Hyperoxaluria Type 1: Phase 3 ILLUMINATE-C Trial Mini Michael, Jaap W. Groothoff, Hadas Shasha‐Lavsky et al. · American Journal of Kidney Diseases Open access 14 Jul 2022 85
22 Sensing Technologies for Autism Spectrum Disorder Screening and Intervention John‐John Cabibihan, Hifza Javed, Mohammed Salem Al-Dosari et al. · Sensors Open access 27 Dec 2016 79
23 Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 Daniela Matuozzo et al. · Genome Medicine Open access1,510 authors 5 Apr 2023 78
24 Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) Marilyn M. Li, Ahmad Abou Tayoun, Marina T. DiStefano et al. · Genetics in Medicine Open access 10 May 2022 77
25 Evaluating the impact of in silico predictors on clinical variant classification Emma H. Wilcox, Mahdi Sarmady, Bryan Wulf et al. · Genetics in Medicine Open access 23 Dec 2021 64
26 ROS‐dependent prostate apoptosis response‐4 (Par‐4) up‐regulation and ceramide generation are the prime signaling events associated with curcumin‐induced autophagic cell death in human malignant glioma Faisal Thayyullathil, Anees Ur Rahman, Siraj Pallichankandy et al. · FEBS Open Bio Open access 2014 63
27 Facemask against viral respiratory infections among Hajj pilgrims: A challenging cluster-randomized trial Mohammad Alfelali, Elizabeth Haworth, Osamah Barasheed et al. · PLoS ONE Open access 13 Oct 2020 56
28 Renal Tubular Acidosis R. Todd Alexander, Martin M. Bitzan · Pediatric Clinics of North America 16 Nov 2018 50
29 Dual Biologic or Small Molecule Therapy in Refractory Pediatric Inflammatory Bowel Disease (DOUBLE-PIBD): A Multicenter Study from the Pediatric IBD Porto Group of ESPGHAN Anat Yerushalmy‐Feler, Christine Olbjørn, Kaija‐Leena Kolho et al. · Inflammatory Bowel Diseases Open access 12 Apr 2023 48
30 The genomic landscape of rare disorders in the Middle East Maha El Naofal et al. · Genome Medicine Open access 26 Jan 2023 48
31 Making the Correct Diagnosis in Thrombotic Microangiopathy: A Narrative Review Phil McFarlane, Martin M. Bitzan, Catherine M. Broome et al. · Canadian Journal of Kidney Health and Disease ReviewOpen access 2021 48
32 Genetic variation in the Middle East—an opportunity to advance the human genetics field Ahmad Abou Tayoun, Heidi L. Rehm · Genome Medicine Open access Dec 2020 48
33 Caring for Critically Ill Children With Suspected or Proven Coronavirus Disease 2019 Infection: Recommendations by the Scientific Sections’ Collaborative of the European Society of Pediatric and Neonatal Intensive Care* Peter C. Rimensberger, Martin C. J. Kneyber, Akash Deep et al. · Pediatric Critical Care Medicine Open access 29 Sep 2020 48
34 Global Variation of Nutritional Status in Children Undergoing Chronic Peritoneal Dialysis: A Longitudinal Study of the International Pediatric Peritoneal Dialysis Network Franz S. Schaefer et al. · Scientific Reports Open access117 authors 20 Mar 2019 46
35 Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms Maninder Kaur et al. · American Journal of Medical Genetics Part A Open access 28 Jun 2023 44
36 Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss Mayher J. Patel et al. · Genetics in Medicine Open access 6 Jul 2021 44
37 Mortality After Pediatric Arterial Ischemic Stroke Lauren A. Beslow, Michael Morgan Dowling, Sahar M. A. Hassanein et al. · PEDIATRICS 25 Apr 2018 44
38 A single‐center SCN8A‐related epilepsy cohort: clinical, genetic, and physiologic characterization Tariq Zaman, Ahmad Abou Tayoun, Ethan M. Goldberg · Annals of Clinical and Translational Neurology Open access 23 Jul 2019 42
39 Elevated ASCL1 activity creates de novo regulatory elements associated with neuronal differentiation Laura M. Woods, Fahad R. Ali, Roshna Lawrence Gomez et al. · BMC Genomics Open access 2 Apr 2022 41
40 Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells Nasna Nassir, Asma Bankapur, Bisan Samara et al. · Human Genomics Open access 21 Nov 2021 41
41 Pediatric Magnet Ingestion, Diagnosis, Management, and Prevention Ahmed Abd Alwahab Nugud, Christos Tzivinikos, Amit Assa et al. · Journal of Pediatric Gastroenterology and Nutrition Open access 22 Mar 2023 40
42 Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome Ghausia Begum, Ammar Albanna, Asma Bankapur et al. · International Journal of Molecular Sciences Open access 19 Feb 2021 39
43 Regulation of angiotensin converting enzyme 2 (ACE2) in obesity: implications for COVID-19 Saba Al Heialy, Mahmood Yaseen Hachim, Abiola Catherine Senok et al. · bioRxiv (Cold Spring Harbor Laboratory) PreprintOpen access 18 Apr 2020 39
44 Genomic medicine in the Middle East Ahmad Abou Tayoun, Khalid Adnan Fakhro, Alawi A.A. Alsheikh-Ali et al. · Genome Medicine Open access 23 Nov 2021 38
45 Genetic variant pathogenicity prediction trained using disease-specific clinical sequencing data sets Perry Evans, Chao Wu, Amanda S. Lindy et al. · Genome Research Open access 24 Jun 2019 38
46 International quality improvement initiatives Patricia A. Hickey, Jean Anne Connor, Kotturathu Mamman Cherian et al. · Cardiology in the Young Open access Dec 2017 38
47 Differences in Management of Eosinophilic Esophagitis in Europe Gilles Tourlamain et al. · Journal of Pediatric Gastroenterology and Nutrition Open access 25 Feb 2020 36
48 Utility of clinical exome sequencing in a complex Emirati pediatric cohort Nour Abu Mahfouz, Praseetha Kizhakkedath, Alia Ibrahim et al. · Computational and Structural Biotechnology Journal Open access 2020 35
49 Multiple early introductions of SARS-CoV-2 into a global travel hub in the Middle East Ahmad Abou Tayoun, Tom Loney, Hamda Hassan Khansaheb et al. · Scientific Reports Open access 20 Oct 2020 34
50 Hydrogen peroxide/ceramide/Akt signaling axis play a critical role in the antileukemic potential of sanguinarine Anees Ur Rahman, Faisal Thayyullathil, Siraj Pallichankandy et al. · Free Radical Biology and Medicine 3 May 2016 33

Citations are OpenAlex's own counts, from its 2026-09-23 snapshot, so the ranking can differ from Google Scholar or Web of Science. A paper is listed for an institution when any of its authors gave it as an affiliation; retracted papers and papers whose citation count cannot be traced to citing works are left out, and a preprint and the article it became are shown once. Release dates are OpenAlex's: where a source gave only a month or a year, that is what is shown. How the lists are chosen.