Author

Christina T. Lam

Seattle Children's HospitalORCID 0000-0003-4705-6434Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant calling· 2 Research Focus:differential expression· 1 Research Focus:dimensionality reduction· 1 Approach:experimental assay· 1 Assay:long-read sequencing· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Jenny M. ThiesiD· 2 shared Alexandra AfenjariD· 1 shared Alexandra P. LewisiD· 1 shared Angela SuniD· 1 shared Anne V HingiD· 1 shared Annelise Yoo Mah-SomiD· 1 shared Arvis SulovariiD· 1 shared Audrey E. Squire· 1 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jenny M. ThiesORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 19, 2023

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP

Annelise Yoo Mah-Som, Jil Daw, Diana Huynh…·Marwan S. Shinawi

The paper identifies novel VCP variants causing a childhood-onset neurodevelopmental disorder through exome sequencing and functional analysis.

DOI 10.1101/2023.06.19.23291232

humanwhole-exome sequencing

𝕏 PostBluesky

GenomicsbioRxivPreprintNov 3, 2020

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

Danny E. Miller, Arvis Sulovari, Tianyun Wang…·Evan E. Eichler

This paper introduces targeted long-read sequencing to identify complex structural variants and disease-causing mutations missed by conventional methods, improving diagnostic accuracy in genetic disorders.

9 citations

humanlong-read sequencing

𝕏 PostBluesky