ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
A common haplotype containing functional CACNA1H variants is frequently coinherited with increased TPSAB1 copy number.
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Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17citing papers in PubMed
1.2field-weighted citation impact, top 21% of its field
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Who cites it
17 citing papers in PubMed, 31 citations in OpenAlex.
- Insights Into Hereditary Alpha-Tryptasemia From a Genome-Wide Association Study in Hymenoptera Venom Anaphylaxis.Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology · 2026Article
- Hereditary alpha tryptasemia: elevated tryptase, female sex, thyroid disorders, and anaphylaxis.Frontiers in allergy · 2024Article
- The Normal Range of Baseline Tryptase Should Be 1 to 15 ng/mL and Covers Healthy Individuals With HαT.The journal of allergy and clinical immunology. In practice · 2023Review
- Mast Cell Activation Syndrome Update-A Dermatological Perspective.Journal of personalized medicine · 2023Review
- Genetically defined individual reference ranges for tryptase limit unnecessary procedures and unmask myeloid neoplasms.Blood advances · 2023Article
- Genotype first: Clinical genomics research through a reverse phenotyping approach.American journal of human genetics · 2023Review
- Small intestinal immunopathology and GI-associated antibody formation in hereditary alpha-tryptasemia.The Journal of allergy and clinical immunology · 2021Article
- Hereditary Alpha-Tryptasemia: a Commonly Inherited Modifier of Anaphylaxis.Current allergy and asthma reports · 2021Review
- Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis.American journal of human genetics · 2021Article
- Hereditary α tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis.Blood · 2021Article
- Case Report: Hereditary Alpha Tryptasemia in Children: A Pediatric Case Series and a Brief Overview of Literature.Frontiers in pediatrics · 2021Article
- Diagnosis, Classification and Management of Mast Cell Activation Syndromes (MCAS) in the Era of Personalized Medicine.International journal of molecular sciences · 2020Review
- An Allosteric Anti-tryptase Antibody for the Treatment of Mast Cell-Mediated Severe Asthma.Cell · 2019Article
- Lipidomic analysis of urinary exosomes from hereditary α-tryptasemia patients and healthy volunteers.FASEB bioAdvances · 2019Article
- Proposed Diagnostic Algorithm for Patients with Suspected Mast Cell Activation Syndrome.The journal of allergy and clinical immunology. In practice · 2019Review
- Why the 20% + 2 Tryptase Formula Is a Diagnostic Gold Standard for Severe Systemic Mast Cell Activation and Mast Cell Activation Syndrome.International archives of allergy and immunology · 2019Review
- Hereditary Alpha Tryptasemia: Genotyping and Associated Clinical Features.Immunology and allergy clinics of North America · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
13 authors at 5 institutions in 2 countries.
Jonathan J LyonsGenetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Stephanie C StotzDepartment of Physiology & Pharmacology, Faculty of Medicine, and The Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.
Jack ChovanecGenetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Yihui LiuGenetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Katie L LewisMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Celeste NelsonGenetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Thomas DiMaggioGenetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Nina JonesClinical Research Directorate/Clinical Monitoring Research Program, Leidos Biomedical Research, Inc.,Frederick, Maryland, USA.
Kelly D StoneGenetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
Heejong SungGenometrics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland, USA.
Leslie G BieseckerMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Michael A ColicosDepartment of Physiology & Pharmacology, Faculty of Medicine, and The Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta, Canada.
Joshua D MilnerGenetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA.
National Institutes of Health · USNational Institute of Allergy and Infectious Diseases · USUniversity of Calgary · CALeidos Biomedical Research Inc. (United States)National Human Genome Research Institute · US
Funding
Genomic Ascertainment - Molecular and Genetic AspectsZIAHG200359 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE · 2009 to 2025
$19.7MTranslational studies in allergic reactions and inflammationZIAAI001192 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI LYONS, JONATHAN · 2014 to 2023
$12.7MGenetic and Pathophysiologic Study of Atopic DiseaseZIAAI001183 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI MILNER, JOSHUA · 2013 to 2019
$8.7MNCI NIH HHS HHSN261200800001E
Abstract
PurposeCa
Indexed as
DNA Copy Number VariationsGene FrequencyHaplotypesInheritance PatternsCalcium Channels, T-TypeCell LineGene DuplicationGenetic Association StudiesGenetic LociGenotyping TechniquesHumansLinkage DisequilibriumMutationPhenotypeSequence Analysis, DNATryptasesCACNA1H protein, humanCalcium Channels, T-TypeTPSAB1 protein, humanTryptases
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.