Armand Bottani

Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes

Beat Steinmann, Gábor Mátyás, Marie-Claude Addor, 2009, Human mutation.

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

Juliane Hoyer, Alexander Dreweke, Alfredo Orrico, 2007, American journal of human genetics.

Subtelomeric 6p deletion: Clinical and array‐CGH characterization in two patients

Marie-Claude Addor, Michael A Morris, Jacques S Beckmann, 2008, American journal of medical genetics. Part A.

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

I. Krantz, M. Bamshad, C. Morris, 2004, Nature Genetics.

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Gabriele Gillessen-Kaesbach, Alex Magee, Alain Verloes, 2009, American journal of medical genetics. Part A.

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

Alain Malafosse, S. Antonarakis, C. Buresi, 1997, Nature.

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster

Periklis Makrythanasis, S. Antonarakis, S. Nikolaev, 2014, Genome research.

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

Yves Moreau, Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, 2012, Nature Genetics.