Genetic & Genomic MedicinemedRxivPreprint
Long-read DNA and RNA sequencing reveal an intronic retrotransposon insertion in TCOF1 causing Treacher Collins syndrome
Federico Ferraro, Nikolas Kühn, Dmitrijs Rots…·Tjakko J. van Ham
Author
Marieke F. van Dooren
Erasmus MC
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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2022-2025 · peak 1/yrCo-Author Collaboration Network
10 top collaborators · 37 mutual co-author linksFocal author (center)Selected co-authorORCID co-authorUnlinked name
Curved chords = mutual co-authorship2 shared papersGenetic & Genomic Medicine
Tahsin Stefan BarakatORCID
Mutual co-authors in cluster
2 papers
Recent·Most cited
- GeneticsCell ReportsPeer-reviewed
Drosophila functional screening of de novo variants in autism uncovers deleterious variants and facilitates discovery of rare neurodevelopmental diseases
Paul C. Marcogliese, Samantha L. Deal, Jonathan C. Andrews…·Shinya Yamamoto
The paper functionally tests ASD missense variants in Drosophila, finding 38% caused functional alterations and identifying GLRA2 as a cause of neurodevelopmental phenotypes.
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