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List of works by Bruno Delobel

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

scientific article

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

scientific article

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

scientific article published on 12 April 2012

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

scientific article published on 14 January 2008

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism

scientific article published on 29 May 2013

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

scientific article published on 5 November 2014

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

scientific article

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

scientific article

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability ⬇️

scientific article published on June 20, 2013

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