Margot A Cousin

8PUBLICATIONS
75CO-AUTHORS
Developmental genetics (incl. sex determination)Epigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseasesNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)
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Publications (8)

|Sep 11, 2025
Clinical Practice Guidelines for the Diagnosis, Management, and Surveillance of LMNB1-Related Autosomal Dominant Leukodystrophy.

Radhika Dhamija, W Oliver Tobin, Pietro Cortelli

|Jun 13, 2022
Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

Margot A Cousin, Emma L Veale, Nikita R Dsouza

|Jul 02, 2021
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.

Margot A Cousin, Blake A Creighton, Keith A Breau

|May 08, 2021
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Sukhleen Kour, Deepa S Rajan, Tyler R Fortuna

|Jun 30, 2020
Interpretation challenges of novel dual-class missense and splice-impacting variant in POLR3A-related late-onset hereditary spastic ataxia.

Joel A Morales-Rosado, Erica L Macke, Margot A Cousin

|Feb 02, 2020
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature.

Sophie Nambot, Laurence Faivre, Ghayda Mirzaa

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Frequent Collaborators

2 joint publications

Patrick R Blackburn

2 joint publications

Nicole J Boczek

2 joint publications

Michael T Zimmermann

1 joint publications

Jennifer M Gass