Martine Doco Fenzy

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

Laïla El Khattabi, Solveig Heide, Jean‐Hubert Caberg et al. · Journal of Medical Genetics · 2018 · 95 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

Catherine Schramm, Camille Charbonnier, Aline Zaréa et al. · Genome Medicine · 2022 · 25 citations · Full text

Life Sciences, Biostatistics, Genetics +17

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Elke Bogaert, Aurore Garde, Thierry Gautier et al. · The American Journal of Human Genetics · 2023 · 25 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening

Gaël Nicolas, Aline Zaréa, Morgane Lacour et al. · Genetics in Medicine · 2024 · 23 citations · Full text

Life Sciences, Genetics, Neurology +17