Publications by authors named "Meaghan Snell"

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Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?
Whiwon Lee, Stephanie Luca, Gregory Costain, Meaghan Snell, Maria Marano

J Genet Couns· April 2022

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A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndrome.
Meredith Curtis, Danielle Baribeau, Susan Walker, Melissa Carter, Gregory Costain, Meaghan Snell

Am J Med Genet A· September 2020

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Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity.
Gregory Costain, Susan Walker, Maria Marano, Danielle Veenma, Meaghan Snell

JAMA Netw Open· September 2020

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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome.
Gregory Costain, Bert Callewaert, Heinz Gabriel, Tiong Y Tan, Susan Walker, Meaghan Snell

Genet Med· April 2019

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Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S Reuter, Meaghan Snell

Eur J Hum Genet· May 2018

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