Author

Øyvind L. Busk

Centre Hospitalier Universitaire Sainte-JustineORCID 0000-0002-6960-2304Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Organism:zebrafish· 1

Frequent Co-Authors

Anne Michele SlavotinekiD· 2 shared Christiane ZweieriD· 2 shared Cornelia S. KrausiD· 2 shared Gunnar HougeiD· 2 shared Adam JacksoniD· 1 shared Aditi Shah ParikhiD· 1 shared Alexander P.A. StegmanniD· 1 shared Amanda Openshaw· 1 shared

Activity by Year

2021-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 36 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anne Michele SlavotinekORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

Angela Peron, Felice D’Arco, Kimberly A. Aldinger, Constance L. Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek, Kimberley Bradbury, Andrea Accogli, Erica Andersen, Ping Yee Billie Au, Roberta Battini, Daniah T. Beleford, Lynne M. Bird, Arjan Bouman, Ange‐Line Bruel, , Cristina Dias

This study defines the clinical spectrum and genotype-phenotype correlations of BCL11A-IDD by analyzing 75 patients with molecular and clinical data.

European Journal of Human Genetics · Oct 24, 2024Peer-reviewedGenetic & Genomic Medicine

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Ilaria Mannucci, Nghi Doan-Phuong Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth S Baynam, David R. Bearden, Ana Beleza‐Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frédéric Bilan, Laurence Albert Bindoff, , Davor Lessel

This study identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.

Genome Medicine · May 21, 2021Peer-reviewedGenetic & Genomic Medicine