Author

Klaus Schmitz‐Abe

Boston Children's HospitalORCID 0000-0002-7242-8861Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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

Signature Assays, Organisms & Methods

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Approach:statistical model· 5 Research Focus:differential expression· 4 Organism:human· 4 Assay:bulk RNA-seq· 2 Research Focus:gene regulatory network inference· 2 Research Focus:benchmarking· 1 Research Focus:cell type annotation· 1 Assay:electronic health records· 1

Frequent Co-Authors

Pankaj B. AgrawaliD· 4 shared Alan H. BeggsiD· 3 shared Qifei LiiD· 3 shared Shiyu LuoiD· 3 shared Casie A. GenettiiD· 2 shared Gill BejeranoiD· 2 shared Heidi CopeiD· 2 shared Jasmine LiniD· 2 shared

Activity by Year

2018-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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4 shared papersGenetics

Pankaj B. AgrawalORCID

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5 papers

Recent·Most cited

GeneticsGenetics in MedicinePeer-reviewedMar 20, 2025

Unique Signatures of Highly Constrained Genes Across Publicly Available Genomic Databases

Klaus Schmitz‐Abe, Qifei Li, S. Greene…·Pankaj B. Agrawal

The paper identifies unique signatures of highly constrained genes using gnomAD and explores their association with human disease and molecular pathways.

2 citations

humanwhole-exome sequencing

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Genetic & Genomic MedicinemedRxivPreprintJan 4, 2024

The Solute Carrier Family 26 Member 9 Is a Modifier of the Rapidly Progressing Cystic Fibrosis Associated with F508del CFTR Mutations

Shiyu Luo, S.D. Rollins, Klaus Schmitz‐Abe…·Pankaj B. Agrawal

The paper identifies SLC26A9 variants as modifier genes associated with rapidly progressing cystic fibrosis in patients with deltaF508 homozygous CFTR mutations.

DOI 10.1101/2024.01.04.23300546

humanbulk RNA-seq

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Molecular BiologybioRxivPreprintApr 24, 2023

Integrated multi-omics approach reveals the role of SPEG in skeletal muscle biology including its relationship with myospryn complex

Qifei Li, Jasmine Lin, Shiyu Luo…·Pankaj B. Agrawal

This paper investigates the role of SPEG in skeletal muscle biology using multi-omics approaches, revealing its interaction with the myospryn complex and its impact on mitochondrial function and calcium signaling.

DOI 10.1101/2023.04.24.538136

mouseproteomics

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GeneticsThe American Journal of Human GeneticsPeer-reviewedMar 19, 2020

De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation

Dongxue Mao, Chloe M. Reuter, Maura R. Z. Ruzhnikov…·Christine M. Eng

The paper identifies de novo variants in EIF2AK1 and EIF2AK2 associated with neurodevelopmental disorders and leukoencephalopathy, showing similar pathogenic mechanisms to CACH/VWM.

68 citationstop 4%

humanstatistical model

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GenomicsGenetics in MedicinePeer-reviewedDec 4, 2018

ClinPhen extracts and prioritizes patientphenotypes directly from medical records to accelerate genetic disease diagnosis

Cole A. Deisseroth, Johannes A. Birgmeier, Ethan E. Bodle…·Gill Bejerano

ClinPhen automatically extracts and prioritizes patient phenotypes from medical records to improve genetic disease diagnosis efficiency.

105 citations

humanelectronic health records

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