Author

Brad Angle

Advocate Children's Hospital

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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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Approach:statistical model· 2 Research Focus:benchmarking· 1 Research Focus:differential expression· 1 Organism:human· 1

Frequent Co-Authors

Aishwarya ArjunaniD· 1 shared Alexander J.M. DingemansiD· 1 shared Alexander P.A. StegmanniD· 1 shared Allison L. GoetschiD· 1 shared Amaia Lasa‐AranzastiiD· 1 shared Andrea M. LewisiD· 1 shared Anne‐Sophie Denommé‐PichoniD· 1 shared Antonio VitobelloiD· 1 shared

Activity by Year

2020-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 24 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Aishwarya ArjunanORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Elke de Boer, Charlotte W. Ockeloen, Rosalie A. Kampen, Juliet E. Hampstead, Alexander J.M. Dingemans, Dmitrijs Rots, Lukas Lütje, Tazeen Ashraf, Rachel Baker, Mouna Barat‐Houari, Brad Angle, Nicolas Chatron, the DDD study, Anne‐Sophie Denommé‐Pichon, Orrin Devinsky, , Tjitske Kleefstra

This study identifies ANKRD11 missense variants as a cause of KBG syndrome by impairing protein stability or transcriptional activity, supporting haploinsufficiency as the underlying mechanism.

Genetics in Medicine · Jul 14, 2022Peer-reviewedGenetic & Genomic Medicine

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Aishwarya Arjunan, Holly Bellerose, Raul Torres, Rotem Ben‐Shachar, Jodi D. Hoffman, Brad Angle, Robert Nathan Slotnick, Brittany N. Simpson, Andrea M. Lewis, Pilar L. Magoulas, Kelly Bontempo, Jeanine Schulze, Jennifer M. Tarpinian, Jessica Bucher, Richard Dineen, , Katherine Johansen Taber

This paper classifies 176 genes on an expanded carrier screening panel into severity categories using an algorithm and maps these classifications to ACOG severity criteria.

Prenatal Diagnosis · May 31, 2020Peer-reviewedGenetic & Genomic Medicine