Guillaume Jedraszak

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 · 120 citations

Cardiovascular Disease, Behaviour Issues, Pediatric Heart Disease +9

Gain‐of‐Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome

Gilles Morin, Nadina Ortiz Bruechle, Amrathlal Rabbind Singh et al. · Human Mutation · 2014 · 111 citations

Genetics, Molecular Biology, Molecular Genetics +17

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: A family report

Guillaume Jedraszak, Karine Braun, Aline Receveur et al. · Annales d Endocrinologie · 2015 · 38 citations

Is Hematopoietic Clonality of Indetermined Potential a Risk Factor for Pulmonary Embolism?

Guillaume Jedraszak, Simon Soudet, Ophélie Evrard et al. · TH Open · 2021 · 34 citations · Full text

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

Julia K. Ehret, Hartmut Engels, Kirsten Cremer et al. · Molecular Cytogenetics · 2015 · 17 citations · Full text