Assessing the Impact of Transgenerational Epigenetic Variation on Complex Traits

Frank Johannes, Emmanuelle Porcher, Felipe Karam Teixeira, +10

PLoS Genetics

Plant GeneticsEpigenetic ChangeGeneticsDna MethylationGenomics +14

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

Juliette Albuisson, Swetha E. Murthy, Michael Bandell, +15

Nature Communications

Signal TransductionMolecular PhysiologyMolecular BiologyIon ChannelsGain-of-function Mutations +5

SCN5A Mutations and the Role of Genetic Background in the Pathophysiology of Brugada Syndrome

Vincent Probst, Arthur A.M. Wilde, Julien Barc, +14

Circulation Cardiovascular Genetics

Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies

Paola G. Meregalli, Hanno L. Tan, Vincent Probst, +11

Heart Rhythm

Loss-of-function Sodium ChannelopathiesChannelopathiesHyperpolarization (Biology)NeurophysiologyPhysiology +7

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome

Michael Frank, Juliette Albuisson, Brigitte Ranque, +12

European Journal of Human Genetics

Mendelian DisorderAutoimmune DiseaseGenetic DisorderMedicineGenetics +9

PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance

Soto Romuald Kiando, Nathan R. Tucker, Luis-Jaime Castro-Vega, +30

PLoS Genetics

Vascular Ehlers-Danlos Syndrome

Michael Frank, Salma Adham, Stéphanie Seigle, +10

Journal of the American College of Cardiology

Autoimmune DiseaseVasculitisCardiovascular DiseaseVascular MalformationPathology +5

Kallmann syndrome: 14 novel mutations in<i>KAL1</i>and<i>FGFR1</i>(<i>KAL2</i>)

Juliette Albuisson, Chistophe Pêcheux, Jean‐Claude Carel, +11

Human Mutation

Developmental AnomalyMendelian DisorderGenetic DisorderGeneticsGenetic Epidemiology +12

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

Paul Kuentz, Judith St‐Onge, Yannis Duffourd, +58

Genetics in Medicine

Molecular DiagnosisGenetic TestingMendelian DisorderGenetic DisorderMedicine +7

Characteristics and clinical assessment of unexplained sudden cardiac arrest in the real-world setting: focus on idiopathic ventricular fibrillation

Victor Waldmann, Wulfran Bougouin, Nicole Karam, +25

European Heart Journal