Enzo Cohen

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 100 citations · Full text

The 2022 version of the gene table of neuromuscular disorders (nuclear genome)

Enzo Cohen, Gisèle Bonne, François Rivier et al. · Neuromuscular Disorders · 2021 · 55 citations · Full text

Neurodegenerative Diseases, Nuclear Genome, Medicine +12

A form of muscular dystrophy associated with pathogenic variants in JAG2

Sandra Coppens, Alison M. Barnard, Sanna Puusepp et al. · The American Journal of Human Genetics · 2021 · 39 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +10

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients

Enzo Cohen, Mohamad Maghnie, Nathalie Collot et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 27 citations · Full text

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldız, Erdi Küçük, Juliet E. Hampstead et al. · Human Genomics · 2023 · 26 citations · Full text