Author

the DDD study

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.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

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

Frequent Co-Authors

Alexander J.M. DingemansiD· 2 shared Alexander P.A. StegmanniD· 2 shared Anne‐Sophie Denommé‐PichoniD· 2 shared Antonio VitobelloiD· 2 shared Christian GilisseniD· 2 shared Elke de BoeriD· 2 shared Laurence Olivier FaivreiD· 2 shared Lisenka E.L.M. VissersiD· 2 shared

Activity by Year

2021-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Alexander J.M. DingemansORCID

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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

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan Manickavasagam Amudhavalli, Siddarth Banka, Frederique Sloan Bena, Bruria Ben‐Zeev, Vincent Robert Bonagura, Ange‐Line Bruel, Theresa Brunet, Han G. Brunner, , Lisenka E.L.M. Vissers

The paper identifies mutation-specific pathophysiological mechanisms in SATB1 variants causing distinct neurodevelopmental disorders.

The American Journal of Human Genetics · Jan 28, 2021Peer-reviewedGenetics