Author

Juanjiangmeng Du

University of Cologne

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Assay:protein sequence· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aarno V. PalotieiD· 2 shared Dennis LaliD· 2 shared Lisa‐Marie NiestrojiD· 2 shared Mark J. DalyiD· 2 shared Patrick MayiD· 2 shared Peter NürnbergiD· 2 shared Anne O’Donnell‐LuriaiD· 1 shared Eduardo Pérez‐PalmaiD· 1 shared

Activity by Year

2018-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 42 mutual co-author links

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2 shared papersGenetics

Aarno V. PalotieORCID

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2 papers

Recent·Most cited

Identification of pathogenic variant enriched regions across genes and gene families

Eduardo Pérez‐Palma, Patrick May, Sumaiya Iqbal, Lisa‐Marie Niestroj, Juanjiangmeng Du, Henrike Heyne, Jessica C. Lal, Anne O’Donnell‐Luria, Peter Nürnberg, Aarno V. Palotie, Mark J. Daly, Dennis Lal

The paper identifies regions in protein sequences enriched for pathogenic variants using gene family alignments and demonstrates their enrichment in neurodevelopmental disorder de novo variants and ClinVar pathogenic classifications.

Genome Research · Jan 1, 2020Peer-reviewedGenetics

Reassessment Of Lesion-Associated Gene And Variant Pathogenicity In Focal Human Epilepsies

Lisa‐Marie Niestroj, Juanjiangmeng Du, Michael Nothnagel, Patrick May, Aarno V. Palotie, Mark J. Daly, Peter Nürnberg, Ingmar Blümcke, Dennis Lal

The paper reassesses the pathogenicity of gene variants associated with focal human epilepsies using evolutionary constraint, ACMG guidelines, and bioinformatic tools.

Epilepsia · Oct 20, 2018Peer-reviewedGenetics