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List of works by Lysanne Patry

De novo mutations in moderate or severe intellectual disability

scientific article

Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

scientific article

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria

scientific article

Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly

scientific article

Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome

scientific article

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

scientific article

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

scientific article

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency

scientific article published on 12 December 2012

Mutations in TMEM231 cause Joubert syndrome in French Canadians

scientific article published on 25 September 2012

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia

scientific article published on 26 September 2013

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

scientific article published on 25 March 2011

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

scientific article published on 15 August 2013

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