Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number

Genes with monoallelic expression contribute disproportionately to genetic diversity in humans

(2016) Virginia Savova et al.   NATURE GENETICS

Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

(2015) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical characteristics and risk profile of patients with elevated baseline serum tryptase

(2014) C. Fellinger et al.   ALLERGOLOGIA ET IMMUNOPATHOLOGIA

SensitiveKITD816V mutation analysis of blood as a diagnostic test in mastocytosis

(2014) Thomas Kristensen et al.   AMERICAN JOURNAL OF HEMATOLOGY

Familial hypertryptasemia with associated mast cell activation syndrome

(2014) Vito Sabato et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

(2014) Yu Zhang et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities

(2014) Jonathan J. Lyons et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A Simple, Sensitive and Safe Method to Determine the Human α/β-Tryptase Genotype

(2014) Quang Trong Le et al.   PLoS One

Autoimmune Basis for Postural Tachycardia Syndrome

(2014) Hongliang Li et al.   Journal of the American Heart Association

The Somatic Genomic Landscape of Glioblastoma

(2013) Cameron W. Brennan et al.   CELL

Update on the epidemiology of gastro-oesophageal reflux disease: a systematic review

(2013) Hashem B El-Serag et al.   GUT

Sensitization to Hymenoptera venoms is common, but systemic sting reactions are rare

(2013) Gunter J. Sturm et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Immunology and Clinical Manifestations of Non-Clonal Mast Cell Activation Syndrome

(2012) Juan-Carlos Cardet et al.   CURRENT ALLERGY AND ASTHMA REPORTS

COMPASS 31: A Refined and Abbreviated Composite Autonomic Symptom Score

(2012) David M. Sletten et al.   MAYO CLINIC PROCEEDINGS

Serum total tryptase levels are increased in patients with active chronic urticaria

(2010) M. Ferrer et al.   CLINICAL AND EXPERIMENTAL ALLERGY

New aspects of liver abnormalities as part of the systemic mast cell activation syndrome

(2010) Kirsten Alfter et al.   LIVER INTERNATIONAL

Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome

(2009) Pei-Wen Chiang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine

(2009) L. G. Biesecker et al.   GENOME RESEARCH

Human subjects are protected from mast cell tryptase deficiency despite frequent inheritance of loss-of-function mutations

(2009) Neil N. Trivedi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Predictors of severe systemic anaphylactic reactions in patients with Hymenoptera venom allergy: Importance of baseline serum tryptase—a study of the European Academy of Allergology and Clinical Immunology Interest Group on Insect Venom Hypersensitivity

(2009) Franziska Ruëff et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Unexplained gastrointestinal symptoms and joint hypermobility: is connective tissue the missing link?

(2009) n. zarate et al.   NEUROGASTROENTEROLOGY AND MOTILITY