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American Journal of Human Genetics|September 20, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variationWarren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, et al.
Biorxiv : the Preprint Server for Biology|February 17, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variationWarren van Loggerenberg, Shahin Sowlati-Hashjin, Jochen Weile, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2019
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyriasBrenden Chen, Sharon Whatley, Michael Badminton, et al.
Molecular Genetics and Metabolism|September 21, 2024
Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare DiseasesJuliette Bouchereau, Camille Wicker, Karine Mention, et al.
Clinical Genetics|January 4, 2020
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patientLuisa Marsili, Eline Overwater, Nadine Hanna, et al.
Nature Genetics|July 10, 2012
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndromeCatherine Boileau, Dong-Chuan Guo, Nadine Hanna, et al.
Gut|October 4, 2024
Systemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non-human primatesKarol M Córdoba, Daniel Jericó, Lei Jiang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 29, 2020
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysmSandy Elbitar, Marjolijn Renard, Pauline Arnaud, et al.
Hepatology (Baltimore, Md.)|September 13, 2019
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent AttacksLaurent Gouya, Paolo Ventura, Manisha Balwani, et al.
The New England Journal of Medicine|June 11, 2020
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent PorphyriaManisha Balwani, Eliane Sardh, Paolo Ventura, et al.
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