Florence Niel‐Bütschi

Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator

Lila Allou, Sara Balzano, Andreas Magg et al. · Nature · 2021 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations

Béryl Royer‐Bertrand, Katarina Cisarova, Florence Niel‐Bütschi et al. · Genes · 2021 · 57 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability

Claudio Reggiani, Sandra Coppens, Tayeb Sékhara et al. · Genome Medicine · 2017 · 39 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn

Flore Zufferey, Danielle Martinet, Maria‐Chiara Osterheld et al. · Pediatric Critical Care Medicine · 2011 · 23 citations · Full text

Medicine, Genetics, Pediatrics +17

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations.

Florence Niel‐Bütschi, B Kantelip, Justyna Iwaszkiewicz et al. · PubMed · 2011 · 16 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15