Publications by authors named "Josh Silver"

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The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics services.
Saumeh Saeedi, Daena Hirijkaka, Marc Clausen, Stephanie Luca, Emma Reble, Josh Silver

Eur J Hum Genet· September 2025

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Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations.
Guylaine D'Amours, Marc Clausen, Stephanie Luca, Emma Reble, Rita Kodida, Josh Silver

BMJ Open· September 2024

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Congenital Myopathy Due to Pathogenic Missense Variant in the Gene.
Vinaya Bhandari, Raymond Kim, Hanna Faghfoury, Josh Silver, Raymond H Chan

Can J Neurol Sci· July 2024

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Genome Sequencing for Diagnosing Rare Diseases.
Monica H Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Josh Silver

N Engl J Med· June 2024

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Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Laura R Claus, Chuan Chen, Jennifer Stallworth, Joshua L Turner, Gisela G Slaats, Josh Silver

Kidney Int· November 2023

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A systematic review of measures of the personal recovery orientation of mental health services and staff.
Mary Leamy, Una Foye, Anne Hirrich, Dagfin Bjørgen, Josh Silver

Int J Ment Health Syst· October 2023

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Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis.
Monica H Wojcik, Gabrielle Lemire, Maha S Zaki, Mariel Wissman, Wathone Win, Josh Silver

medRxiv· August 2023

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Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery.
Stephanie Luca, Marc Clausen, Angela Shaw, Whiwon Lee, Suvetha Krishnapillai, Josh Silver

Hum Genet· March 2023

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The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.
David Heikoop, Lauren Brick, David Chitayat, Samantha Colaiacovo, Lucie Dupuis, Josh Silver

Am J Med Genet A· December 2021

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De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
Volkan Okur, Zefu Chen, Liesbeth Vossaert, Sandra Peacock, Jill Rosenfeld, Josh Silver

NPJ Genom Med· December 2021

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Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Salma Shickh, Mariana Gutierrez Salazar, Kathleen-Rose Zakoor, Conxi Lázaro, Jessica Gu, Josh Silver

J Med Genet· April 2021

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Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics: Yield and Clinical Significance.
Sara Hoss, Manhal Habib, Josh Silver, Melanie Care, Raymond H Chan

Circ Genom Precis Med· April 2020

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Neuroendocrine Neoplasms Associated with Germline Pathogenic Variants in the Homologous Recombination Pathway.
Marta Szybowska, Ozgur Mete, Evan Weber, Josh Silver, Raymond H Kim

Endocr Pathol· September 2019

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Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum.
Jessica S Suddaby, Josh Silver, Joyce So

Psychiatr Genet· June 2019

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Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease.
Saleh Albanyan, Rachel H Giles, Enric Mocholi Gimeno, Josh Silver, Jillian Murphy

Eur J Med Genet· March 2019

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Primary mediastinal paraganglioma associated with a familial variant in the succinate dehydrogenase B subunit gene.
Nardin Samuel, Resham Ejaz, Josh Silver, Shereen Ezzat, Robert J Cusimano

J Surg Oncol· February 2018

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Self-refraction, ready-made glasses and quality of life among rural myopic Chinese children: a non-inferiority randomized trial.
Zhongqiang Zhou, Tingting Chen, Ling Jin, Dongxing Zheng, Shangji Chen, Josh Silver

Acta Ophthalmol· September 2017

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From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2.
Taimoor I Sheikh, Juan Ausió, Hannah Faghfoury, Josh Silver, Jane B Lane

Sci Rep· December 2016

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Lijia Huang, Megan R Vanstone, Taila Hartley, Matthew Osmond, Nick Barrowman, Josh Silver

Hum Mutat· February 2016

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Genetic Counselors' and Genetic Counseling Students' Attitudes Around the Clinical Doctorate and Other Advanced Educational Options for Genetic Counselors: A Report from the Genetic Counseling Advanced Degree Task Force.
Rebecca Nagy, Holly Peay, Melissa Hicks, Jacqueline Kloos, Rachel Westman, Josh Silver

J Genet Couns· August 2015

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Spectacle design preferences among Chinese primary and secondary students and their parents: a qualitative and quantitative study.
Zhongqiang Zhou, Maja Kecman, Tingting Chen, Tianyu Liu, Ling Jin, Josh Silver

PLoS One· January 2015

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