Author

Jenny M. Thies

Seattle Children's HospitalORCID 0000-0002-7122-2431Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Approach:statistical model· 3 Research Focus:differential expression· 2 Research Focus:variant calling· 2 Research Focus:cell type annotation· 1 Research Focus:dimensionality reduction· 1 Approach:experimental assay· 1 Assay:long-read sequencing· 1

Frequent Co-Authors

Christina T. LamiD· 2 shared Marjolein H. WillemseniD· 2 shared Abbey M. Putnam· 1 shared Abeltje M. Polstra· 1 shared Abinayah JohniD· 1 shared Adam JacksoniD· 1 shared Adi Reich· 1 shared Alexandra AfenjariD· 1 shared

Activity by Year

2020-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 18 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christina T. LamORCID

Mutual co-authors in cluster

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4 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

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJan 28, 2022

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

Holly Melland, Fabian Bumbak, Anna Kolesnik…·Kate Baker

This study expands the known genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder by analyzing 22 individuals with de novo missense variants.

46 citationstop 3%

humanstatistical model

𝕏 PostBluesky

GeneticsGenetics in MedicinePeer-reviewedAug 3, 2021

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega…·Tahsin Stefan Barakat

The paper characterizes the clinical and molecular features of 36 individuals with SETD1B variants, identifying a core phenotype of developmental delay and variable epilepsy, with male predominance and potential sex-linked effects.

36 citations

humanstatistical model

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