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Archana Herwadkar

Whole-genome sequencing of patients with rare diseases in a national health system
2020 · Ernest Turro, William J. Astle, et al. · Nature · 574
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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
2016 · Keren J. Carss, Gavin Arno, et al. · The American Journal of Human Genetics · 475
Whole-genome sequencing of a sporadic primary immunodeficiency cohort
2020 · James E. D. Thaventhiran, Hana Lango Allen, et al. · Nature · 244
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Germline selection shapes human mitochondrial DNA diversity
2019 · Wei Wei, Salih Tuna, et al. · Science · 244
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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
2018 · Paul Tuijnenburg, Hana Lango Allen, et al. · Journal of Allergy and Clinical Immunology · 243
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COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience
2020 · Adrian M. Shields, Siobhan O. Burns, et al. · Journal of Allergy and Clinical Immunology · 228
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Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
2021 · Julian Thalhammer, Gerhard Kindle, et al. · Journal of Allergy and Clinical Immunology · 180
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Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
2017 · Charaka Hadinnapola, Marta Bleda, et al. · Circulation · 150
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations
2020 · Tiziana Lorenzini, Manfred Fliegauf, et al. · Journal of Allergy and Clinical Immunology · 149
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The United Kingdom Primary Immune Deficiency (UKPID) Registry: report of the first 4 years' activity 2008–2012
2013 · J D M Edgar, M Buckland, et al. · Clinical & Experimental Immunology · 107
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data
2018 · James H. R. Farmery, Mike L. Smith, et al. · Scientific Reports · 89
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A UK national audit of hereditary and acquired angioedema
2013 · S Jolles, P Williams, et al. · Clinical & Experimental Immunology · 82
Anaphylaxis to the chlorhexidine component of Instillagel®: a case series
2008 · A.W. Parkes, N. Harper, et al. · British Journal of Anaesthesia · 77
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes
2018 · James Whitworth, Philip S. Smith, et al. · The American Journal of Human Genetics · 70
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Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia
2019 · Kathleen M. Gorman, Esther Meyer, et al. · The American Journal of Human Genetics · 67
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Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients
2025 · Gerhard Kindle, Mickaël Alligon, et al. · Journal of Human Immunity · 57
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Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension
2020 · Emilia M. Swietlik, Daniel Greene, et al. · Circulation Genomic and Precision Medicine · 57
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Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma
2023 · Ekaterina Minskaia, Jesmeen Maimaris, et al. · Journal of Clinical Immunology · 45
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De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
2018 · Yoko Ito, Keren J. Carss, et al. · The American Journal of Human Genetics · 42
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Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK
2022 · Adrian M Shields, Ariharan Anantharachagan, et al. · Clinical & Experimental Immunology · 37
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Impact of vaccination on hospitalization and mortality from COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience
2022 · Adrian M. Shields, Susan Tadros, et al. · Frontiers in Immunology · 34
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Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration
2017 · Gavin Arno, Keren J. Carss, et al. · The American Journal of Human Genetics · 33
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A National Survey of Hereditary Angioedema and Acquired C1 Inhibitor Deficiency in the United Kingdom
2023 · Patrick F.K. Yong, Tanya Coulter, et al. · The Journal of Allergy and Clinical Immunology In Practice · 27
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Berotralstat for the prophylaxis of hereditary angioedema—Real‐world evidence data from the United Kingdom
2023 · Manisha Ahuja, Anthony Dorr, et al. · Allergy · 18
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TCF3 Dominant Negative Variant Causes an Early Block in B-Lymphopoiesis and Agammaglobulinemia
2021 · Ebtehal Al Sheikh, Peter D. Arkwright, et al. · Journal of Clinical Immunology · 16
Works count: 52
Citation count: 3,667
H-index: 24
I10-index: 29
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