Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria

Manisha Balwani, Eliane Sardh, Paolo Ventura, +31

New England Journal of Medicine

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

Cathérine Boileau, Dong Guo, Nadine Hanna, +23

Nature Genetics

Marfan SyndromeTgfb2 MutationsPathologyCongenital Heart DefectMild Systemic Features +5

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

Sharon D. Whatley, Sarah Ducamp, Laurent Gouya, +15

The American Journal of Human Genetics

BiologyMedicineGeneticsPathogenesisIron Overload +9

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

Laurent Gouya, Hervé Puy, Anne-Marie Robréau, +5

Nature Genetics

BiologyDominant Erythropoietic ProtoporphyriaGeneticsWildtype FechGenetic Variation +1

Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria

Laurent Gouya, Caroline Schmitt, Anne-Marie Robréau, +8

The American Journal of Human Genetics

BiologyGenetic AnalysisAllelic VariantGenome StudyMedicine +10

EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks

Laurent Gouya, Paolo Ventura, Manisha Balwani, +33

Hepatology

Inheritance in Erythropoietic Protoporphyria: A Common Wild-Type Ferrochelatase Allelic Variant With Low Expression Accounts for Clinical Manifestation

Laurent Gouya, Hervé Puy, J. Lamoril, +4

Blood

Molecular Epidemiology and Diagnosis of PBG Deaminase Gene Defects in Acute Intermittent Porphyria

Hervé Puy, Jean‐Charles Deybach, J. Lamoril, +5

The American Journal of Human Genetics

Molecular EpidemiologyGeneticsPathogenesisPathologyMolecular Genetics +3

Germline<i>SFTPA1</i>mutation in familial idiopathic interstitial pneumonia and lung cancer

Nadia Nathan, Violaine Giraud, C. Picard, +23

Human Molecular Genetics

P.trp211arg MutationEngineeringAdvanced Lung DiseaseMedicineProteomics +10

MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections

Mathieu Barbier, Marie Sylvie Gross, Mélodie Aubart, +19

The American Journal of Human Genetics

Mfap5 Loss-of-function MutationsGeneticsMatrix AlterationPathologyCongenital Heart Anomaly +3