Armand Bottani
University Hospital of Geneva(CH)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Genetic Syndromes and Imprinting, RNA modifications and cancer
Most-Cited Works
- → Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B(2004)717 cited
- → Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus(2011)475 cited
- → High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome(2013)364 cited
- → Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy(1997)357 cited
- → Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report(2011)337 cited
- → Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21(2008)325 cited
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