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List of works by Madeleine Fannemel

A 1 Mb de novo deletion within 11q13.1q13.2 in a boy with mild intellectual disability and minor dysmorphic features

scientific article published on 30 August 2012

A balanced de novo inv(7)(p14.3q22.3) disrupting PDE1C and ATXN7L1 in a 14-year old developmentally delayed boy.

scientific article published on 9 May 2013

A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype

scientific article published on 09 April 2010

A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures.

scientific article published on 23 August 2012

A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms

scientific article published on 31 July 2015

Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

scientific article

Haploinsufficiency of ANO6, NELL2 and DBX2 in a boy with intellectual disability and growth delay

scientific article published on 06 April 2015

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms

scientific article published on 7 June 2014

Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

scientific article

Hyperphagia, mild developmental delay but apparently no structural brain anomalies in a boy without SOX3 expression

scientific article

Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report

scientific article published on 07 May 2020

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