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Josh Silver

Genome Sequencing for Diagnosing Rare Diseases
2024 · Monica H. Wojcik, Gabrielle Lemire, et al. · New England Journal of Medicine · 208
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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
2015 · Lijia Huang, Megan R. Vanstone, et al. · Human Mutation · 74
Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics
2020 · Sara Hoss, Manhal Habib, et al. · Circulation Genomic and Precision Medicine · 53
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
2023 · Laura R. Claus, Chuan Chen, et al. · Kidney International · 43
Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery
2023 · Stephanie Luca, Marc Clausen, et al. · Human Genetics · 33
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Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study
2020 · Salma Shickh, Mariana Gutierrez Salazar, et al. · Journal of Medical Genetics · 32
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)
2017 · Matthew S. Lebo, Kathleen-Rose Zakoor, et al. · Genetics in Medicine · 31
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De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities
2021 · Volkan Okur, Zefu Chen, et al. · npj Genomic Medicine · 28
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From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2
2016 · Taimoor I. Sheikh, Juan Ausió, et al. · Scientific Reports · 27
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Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum
2019 · Jessica S. Suddaby, Josh Silver, et al. · Psychiatric Genetics · 21
Neuroendocrine Neoplasms Associated with Germline Pathogenic Variants in the Homologous Recombination Pathway
2019 · Marta Szybowska, Ozgur Mete, et al. · Endocrine Pathology · 18
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
2014 · Rebecca Nagy, Holly Peay, et al. · Journal of Genetic Counseling · 18
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Genetics providers’ perspectives on the use of digital tools in clinical practice
2024 · Whiwon Lee, Daena Hirjikaka, et al. · Genetics in Medicine · 8
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Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
2023 · Monica H Wojcik, Gabrielle Lemire, et al. · medRxiv · 7
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The phenotypic spectrum of AMER1 ‐related osteopathia striata with cranial sclerosis: The first Canadian cohort
2021 · David Heikoop, Lauren Brick, et al. · American Journal of Medical Genetics Part A · 6
Primary mediastinal paraganglioma associated with a familial variant in the succinate dehydrogenase B subunit gene
2017 · Nardin Samuel, Resham Ejaz, et al. · Journal of Surgical Oncology · 6
Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease
2018 · Saleh Albanyan, Rachel H. Giles, et al. · European Journal of Medical Genetics · 4
Abstracts of the 53rd ESPN Annual Meeting, Amsterdam, The Netherlands, September 2021
2021 · Claus, Laura R., Stallworth, Jennifer, et al. · Pediatric Nephrology · 3
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Genotype and Family History as Risk Markers of Sudden Cardiac Death in Hypertrophic Cardiomyopathy
2026 · Ali Sakhnini, Mahdi Montazeri, et al. · JACC. Clinical electrophysiology · 2
The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services
2025 · Saumeh Saeedi, Daena Hirjikaka, et al. · European Journal of Human Genetics · 2
Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations
2024 · Guylaine D'Amours, Marc Clausen, et al. · BMJ Open · 2
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Congenital Myopathy Due to Pathogenic Missense Variant in the MYBPC1 Gene
2023 · Vinaya Bhandari, Raymond Kim, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques · 2
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FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy
2022 · Laura Claus, Jennifer Stallworth, et al. · Nephrology Dialysis Transplantation · 2
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Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia
2026 · Marion Aubert Mucca, Roberto Mendoza-Londono, et al. · European Journal of Human Genetics · 1
Position Statement on the Regulation of Genetic Counselors in Canada on Behalf of National and Provincial Genetic Counselor Organizations
2026 · Rachel Vanneste, Andrea Secord, et al. · Journal of Genetic Counseling
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Works count: 34
Citation count: 631
H-index: 12
I10-index: 12
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