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Armand Bottani | Researchclopedia

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Armand Bottani

University Hospital of Geneva ORCID

118

Works

6,818

Citations

37

h-index

70

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases

Affiliations

University of Geneva1994–2023

Inserm2023–2023

University of Liège1995–1995

Université de Bourgogne2017–2017

University of Zurich1991–2023

Top Works

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

Ian D. Krantz,Jennifer McCallum,et al.

2004717 citations

Genetic Syndromes and Imprinting

RNA modifications and cancer

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont,Alexandre Reymond,et al.

2011476 citations

High cumulative risks of cancer in patients with <i>PTEN</i> hamartoma tumour syndrome

Virginie Bubien,Françoise Bonnet,et al.

2013365 citations

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

Maria D. Lalioti,Hamish S. Scott,et al.

1997358 citations

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report

Hanan Hamamy,Stylianos E. Antonarakis,et al.

2011337 citations

Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Robert Lyle,Frédérique Béna,et al.

2008326 citations

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Christiane Zweier,Maarit Peippo,et al.

2007315 citations

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients

Wendy P. Robinson,Armand Bottani,et al.

1991280 citations

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT,Beata Nowakowska,et al.

2012243 citations