Publications by authors named "Michelle Demos"

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-related neurodevelopmental disorder: Clinical case reports and biophysical characterization.
Mohammad-Reza Ghovanloo, Cynthia Gershome, Robin van der Lee, Britt Drogemoller, Linhua Zhang, Michelle Demos

Channels (Austin)· December 2025

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A multimorphic variant in ThPOK causes an inborn error of immunity with T cell defects and fibrosis.
Maryam Vaseghi-Shanjani, Mehul Sharma, Pariya Yousefi, Simran Samra, Kaitlin U Laverty, Michelle K Demos

J Exp Med· August 2025

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Putting control into parents' hands: Parent experiences with a genomic results e-booklet.
Shelin Adam, Patricia Gombas, Michelle Demos, Cyrus Boelman, Mary B Connolly

J Genet Couns· August 2025

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Evaluating family-centred care at BC Children's Hospital: Healthcare providers' perspectives.
Tessa Kolar, Courtney B Cook, Anthony Cooper, Tom Blydt-Hansen, Mary B Connolly, Michelle Demos

J Eval Clin Pract· February 2025

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Where there is no genetic counselor: An online decision-aid supports the majority of parents' diagnostic genomic testing choices for their children.
Patricia Birch, Rhea Beauchesne, Nick Bansback, Cyrus Boelman, Mary Connolly, Michelle Demos

Genet Med· September 2024

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Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Malavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, Cyrus Boelman, Richard A Dean, Michelle K Demos

BMC Neurol· January 2024

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Expanding the genotype-phenotype spectrum in SCN8A-related disorders.
Malavika Hebbar, Nawaf Al-Taweel, Inderpal Gill, Cyrus Boelman, Richard A Dean, Michelle K Demos

Res Sq· August 2023

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Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.
Stefanie Perrier, Kether Guerrero, Luan T Tran, Mackenzie A Michell-Robinson, Geneviève Legault, Michelle Demos

Front Neurol· April 2023

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Somatic mosaicism detected by genome-wide sequencing in 500 parent-child trios with suspected genetic disease: clinical and genetic counseling implications.
Courtney B Cook, Linlea Armstrong, Cornelius F Boerkoel, Lorne A Clarke, Christèle du Souich, Michelle K Demos

Cold Spring Harb Mol Case Stud· December 2021

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Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Gabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, Enrico Mingardo, Haktan B Erdem, Michelle Demos

Genet Med· September 2021

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-associated neurodevelopmental disorder.
Alexandra Roston, Dan Evans, Harinder Gill, Margaret McKinnon, Bertrand Isidor, Michelle Demos

J Med Genet· March 2021

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Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Félixe Pelletier, Stefanie Perrier, Ferdy K Cayami, Amytice Mirchi, Stephan Saikali, Michelle Demos

J Clin Endocrinol Metab· January 2021

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Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Marina Trivisano, Alessandro Ferretti, Elizabeth Bebin, Linda Huh, Gaetan Lesca, Michelle Demos

Epilepsia· July 2020

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Correction to: Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy.
Yun-Fei Bai, Michelle Chiu, Elizabeth S Chan, Peter Axerio-Cilies, Jie Lu, Michelle Demos

Mol Brain· March 2020

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Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy.
Yun-Fei Bai, Michelle Chiu, Elizabeth S Chan, Peter Axerio-Cilies, Jie Lu, Michelle Demos

Mol Brain· November 2019

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Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide.
Anita N Datta, Aspasia Michoulas, Ilaria Guella, , Michelle Demos

J Child Neurol· October 2019

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Atypical cerebral palsy: genomics analysis enables precision medicine.
Allison M Matthews, Ingrid Blydt-Hansen, Basmah Al-Jabri, John Andersen, Maja Tarailo-Graovac, Michelle Demos

Genet Med· July 2019

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Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B McKenzie, Sarah E Buerki

Front Neurol· May 2019

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Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.
Shelin Adam, Patricia H Birch, Rachel R Coe, Nick Bansback, Adrian L Jones, Michelle K Demos

J Genet Couns· July 2018

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Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.
Víctor Faundes, William G Newman, Laura Bernardini, Natalie Canham, Jill Clayton-Smith, Michelle K Demos

Am J Hum Genet· January 2018

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An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.
Colin Wilbur, Sarah E Buerki, Ilaria Guella, Eric B Toyota, Daniel M Evans, Michelle Demos

Pediatr Neurol· October 2017

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De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Ilaria Guella, Marna B McKenzie, Daniel M Evans, Sarah E Buerki, Eric B Toyota, Michelle Demos

Am J Hum Genet· August 2017

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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
Anna Lehman, Samrat Thouta, Grazia M S Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Michelle Demos

Am J Hum Genet· July 2017

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De novo mutation in 2 patients with neonatal-onset epilepsy.
Ilaria Guella, Linda Huh, Marna B McKenzie, Eric B Toyota, E Martina Bebin, Michelle Demos

Neurol Genet· December 2016

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Exome Sequencing and the Management of Neurometabolic Disorders.
Maja Tarailo-Graovac, Casper Shyr, Colin J Ross, Gabriella A Horvath, Ramona Salvarinova, Michelle Demos

N Engl J Med· June 2016

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