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Lynette Y. S. Lau

Emerging Adulthood as a Critical Stage in the Life Course
2017 · David Wood, Tara Crapnell, et al. · Springer eBooks · 646
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Epigenomic alterations define lethal CIMP-positive ependymomas of infancy
2014 · S. C. Mack, H. Witt, et al. · Nature · 607
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Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
2013 · Yong-hui Jiang, Ryan K.C. Yuen, et al. · The American Journal of Human Genetics · 474
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Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder
2015 · Kristiina Tammimies, Christian R. Marshall, et al. · JAMA · 418
Intra- and Interindividual Epigenetic Variation in Human Germ Cells
2006 · James M. Flanagan, Violeta Popendikyte, et al. · The American Journal of Human Genetics · 234
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Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder
2014 · Mohammed Uddin, Kristiina Tammimies, et al. · Nature Genetics · 163
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
2023 · Heidi L. Rehm, Heidi L. Rehm, et al. · Genetics in Medicine · 137
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Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia
2015 · Christian R Marshall, Stephen W Scherer, et al. · G3 Genes Genomes Genetics · 76
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Stakeholder Perspectives on Research and Practice in Autism and Transition
2018 · Alice A. Kuo, Tara Crapnell, et al. · PEDIATRICS · 41
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome
2015 · Christian R Marshall, Sandra A Farrell, et al. · BMC Genomics · 27
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The DataHarmonizer: a tool for faster data harmonization, validation, aggregation and analysis of pathogen genomics contextual information
2023 · Ivan S. Gill, Emma J. Griffiths, et al. · Microbial Genomics · 24
Genome-Wide Sequencing Identified Rare Genetic Variants for Childhood-Onset Monogenic Lupus
2022 · Melissa C. Misztal, Fangming Liao, et al. · The Journal of Rheumatology · 23
A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
2021 · Livia O. Loureiro, Jennifer L. Howe, et al. · npj Genomic Medicine · 23
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Prevalence of Low-Frequency, Antiviral Resistance Variants in SARS-CoV-2 Isolates in Ontario, Canada, 2020-2023
2023 · Calvin P. Sjaarda, Lynette Lau, et al. · JAMA Network Open · 18
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Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario
2022 · Robin Z. Hayeems, Christian R. Marshall, et al. · CMAJ Open · 14
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Introduction to Transitions in the Life Course of Autism and Other Developmental Disabilities
2018 · Alice A. Kuo, Kristy A. Anderson, et al. · PEDIATRICS · 11
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon
2024 · Angelica Maria Delgado-Vega, Helene Cederroth, et al. · Nature Genetics · 10
Utility of SARS-CoV-2 Genomic Sequencing for Understanding Transmission and School Outbreaks
2023 · Aaron Campigotto, Allison Chris, et al. · The Pediatric Infectious Disease Journal · 6
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Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial
2025 · Robin Z. Hayeems, Wendy J. Ungar, et al. · Genetics in Medicine · 4
A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis
2025 · Wendy J. Ungar, Vercancy Wu, et al. · Genetics in Medicine · 3
Variant detection and the Autism sequencing project
2011 · Orion Buske, Misko Dzamba, et al. · BMC Bioinformatics · 3
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P740: DMD or not DMD? Clinical genome sequencing in the interpretation of complex copy number gains
2024 · Edward Higginbotham, Lynette Lau, et al. · Genetics in Medicine Open · 2
Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing
2014 · Ashton A. Connor, Hagit Katzov-Eckert, et al. · Familial Cancer · 2
P866: Exploring the impact of secondary findings in a cohort of patients and families receiving genome-wide sequencing
2024 · Katharine Fooks, Lydia Vermeer, et al. · Genetics in Medicine Open · 1
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MG-129 Our experience ofin silicogene panel testing for clinically heterogeneous disorders using exome sequencing
2015 · Raveen K Basran, Christian R Marshall, et al. · Journal of Medical Genetics · 1
Works count: 51
Citation count: 2,967
H-index: 14
I10-index: 17
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