Gilles Morin

机构：Sorbonne Université, Centre Hospitalier Universitaire Amiens-Picardie, Assistance Publique – Hôpitaux de Paris, Pitié-Salpêtrière Hospital

发表论文 67 篇 · 总被引 2756 次 · h-index 19

代表论文

• Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature (2017 · Journal of Medical Genetics · 被引 128)
• SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females (2021 · The American Journal of Human Genetics · 被引 93)
• Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients (2016 · Journal of Neuromuscular Diseases · 被引 93)
• Mutation Update of theCLCN5Gene Responsible for Dent Disease 1 (2015 · Human Mutation · 被引 91)
• Wiedemann‐Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases (2018 · Clinical Genetics · 被引 83)
• Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation (2018 · Genetics in Medicine · 被引 61)