Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

ACMG clinical laboratory standards for next-generation sequencing

Heidi L. Rehm, Sherri J. Bale, Pınar Bayrak‐Toydemir et al. · Genetics in Medicine · 2013 · 930 citations · Full text

Life Sciences, Biomedical Informatics, Molecular Biology +14

Classification, diagnosis, and approach to treatment for angioedema: consensus report from the <scp>H</scp>ereditary <scp>A</scp>ngioedema <scp>I</scp>nternational <scp>W</scp>orking <scp>G</scp>roup

Marco Cicardi, Werner Aberer, Aleena Banerji et al. · Allergy · 2014 · 651 citations · Full text

Medicine, Pharmacotherapy, Dermatopathology +9

WAO Guideline for the Management of Hereditary Angioedema

Timothy Craig, Emel Aygören Pürsün, Konrad Bork et al. · World Allergy Organization Journal · 2012 · 345 citations · Full text

Life Sciences, Internal Medicine, Clinical Medicine +9

Frequent de novo mutations and exon deletions in the C1inhibitor gene of patients with angioedema

Emanuela Pappalardo, Marco Cicardi, Christiane Duponchel et al. · Journal of Allergy and Clinical Immunology · 2000 · 245 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5