Hans Tomas Bjornsson
11PUBLICATIONS
52CO-AUTHORS
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Publications (11)
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|May 19, 2025
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman
|Jun 19, 2023
SMYD5 is a regulator of the mild hypothermia response.Salvor Rafnsdottir, Kijin Jang, Sara Tholl Halldorsdottir
|Jun 21, 2022
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2.Tinna Reynisdottir, Kimberley Jade Anderson, Leandros Boukas
|May 23, 2022
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.Sangwoo T Han, Katherine J Anderson, Hans T Bjornsson
|Aug 31, 2021
Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation.Teresa Romeo Luperchio, Leandros Boukas, Li Zhang
|Dec 10, 2019
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life.Teresa Romeo Luperchio, Carolyn D Applegate, Olaf Bodamer
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Frequent Collaborators
3 joint publications
Kimberley Jade Anderson
2 joint publications
Tinna Reynisdottir
2 joint publications
Teresa Romeo Luperchio
1 joint publications
Gregory D Bowman
1 joint publications
E M Mahone
1 joint publications
Sarah Bowdin
1 joint publications
Adel Gilbert
1 joint publications
Emma Bedoukian
1 joint publications
Christopher Carew
1 joint publications
Barbara Bernhardt
