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List of works by Francine Mugneret

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

scientific article

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome

scientific article published on 30 March 2011

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder.

scientific article

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.

scientific article published on 23 September 2015

Chromosomal aberrations and their prognostic value in a series of 174 untreated patients with Waldenström's macroglobulinemia

scientific article published on 12 October 2012

Genetic differences between paediatric and adult Burkitt lymphomas

scientific article published on 16 February 2016

Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

scientific article published on February 2009

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

scientific article published in July 2009

Patterns of genomic aberrations suggest that Burkitt lymphomas with complex karyotype are distinct from other aggressive B‐cell lymphomas with MYC rearrangement ⬇️

scientific article published on September 25, 2012

Retracted: Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability ⬇️

scientific article published on November 28, 2011

Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in theOFD1gene

article

Specific chromosomal IG translocations have different prognoses in chronic lymphocytic leukemia

scientific article published on 15 April 2011

The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

scientific article published on 17 February 2011

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