4
Publications
501
Citations
4
H-Index
2017
Active since
Affiliations
Ambry Genetics (United States)(Current)
Emily Mountier is an author at Ambry Genetics (United States) specializing in neurogenetics, genetics, and medicine.
Top concepts
GeneticsMedicineNeurogeneticsGenomicsNeurologyGynecologyNeuroscienceSocial SciencesClinical GeneticsGenetic Variation
Publications per year
2017–2021
4
4
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals
Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott et al. · The American Journal of Human Genetics · 2019 · 298 citations · Full text
Allelic Variant, Ultra-rare Genetic Variation, Whole-exome Sequencing Study +10
Not all <i>SCN1A</i> epileptic encephalopathies are Dravet syndrome
Lynette G. Sadleir, Emily Mountier, Deepak Gill et al. · Neurology · 2017 · 124 citations · Full text
Distinct gene-set burden patterns underlie common generalized and focal epilepsies
Mahmoud Koko, Roland Krause, Thomas Sander et al. · EBioMedicine · 2021 · 15 citations · Full text
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