Jacques Puechberty

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)

Sylvie Grandemange, Elodie Sanchez, Pascale Louis‐Plence et al. · Annals of the Rheumatic Diseases · 2016 · 222 citations

Medicine, Immunology, Molecular Genetics +17

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

Marie Vincent, David Geneviève, Agnès Ostertag et al. · Genetics in Medicine · 2015 · 162 citations

Medicine, Clinical Sciences, Molecular Genetics +3

15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients

Clémence Vanlerberghe, Florence Petit, Valérie Malan et al. · European Journal of Medical Genetics · 2015 · 122 citations

Medicine, Genetics, Pediatrics +17

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients

Ngoc Minh Nguyen, Yassemine Khawajkie, Nawel Mechtouf et al. · Modern Pathology · 2018 · 83 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders

Caroline Schluth‐Bolard, Flavie Diguet, Nicolas Chatron et al. · Journal of Medical Genetics · 2019 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17