Jennifer Fabre-Teste

Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases

Essam Al Ageeli, Séverine Drunat, Catherine Delanöe et al. · European Journal of Medical Genetics · 2013 · 134 citations

Life Sciences, Genetics, Molecular Genetics +16

The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

Friederike Petzold, Katy Billot, Xiaoyi Chen et al. · Kidney International · 2023 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

Laura Mary, Amélie Piton, Élise Schaefer et al. · European Journal of Human Genetics · 2018 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

Marine Legendre, Montserrat Rodriguez - Ballesteros, Massimiliano Rossi et al. · European Journal of Human Genetics · 2017 · 12 citations · Full text

Medicine, Genetics, Molecular Genetics +13