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List of works by Margot A Cousin

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

scientific article published on 31 January 2020

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

scientific article published on 13 June 2022

Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia

scientific article published on 29 June 2020

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

scientific article published on 07 May 2021

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

scientific article published on 01 July 2021

Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients

scientific article published on 19 March 2017

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

scientific article

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