Author

Holly E. Babcock

Children's National

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

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Genetic & Genomic Medicine· 1

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1

Frequent Co-Authors

Alba Sanchis‐JuaniD· 1 shared Alexandrea F. Wadley· 1 shared Alyssa Gates· 1 shared Amy McTagueiD· 1 shared Angus John ClarkeiD· 1 shared Anne Michele SlavotinekiD· 1 shared Ashley C. TayloriD· 1 shared Bernt PoppiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alba Sanchis‐JuanORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedDec 9, 2020

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Chiara Klöckner, Heinrich Sticht, Pia Zacher…·Konrad Platzer

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

47 citations

humanstatistical model