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Lysanne Patry

Université de Montréal

21

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1596

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

2015 Journal of Medical Genetics
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De Novo Mutations in Moderate or Severe Intellectual Disability

2014 PLOS Genetics
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SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

2014 Human Molecular Genetics
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Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation.

2014 Clinical Dysmorphology
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Citations (19)
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy

2013 Neuron
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Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

2013 American Journal of Human Genetics
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Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

2013 Human Mutation
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Parent–child exome sequencing identifiesa de novo truncating mutation in TCF4 in non‐syndromic intellectual disability

2013 Clinical Genetics
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Identification and biochemical characterization of a novel mutation in DDX11 causing Warsaw breakage syndrome.

2013 Human Mutation
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Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly

2013 Journal of Medical Genetics
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Citations (33)