Hans Tomas Bjornsson (Hans T Bjornsson, Hans T Björnsson, H T Bjornsson)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 12

Top Venues

bioRxiv : the preprint server for biology

Molecular genetics & genomic medicine

Developmental medicine and child neurology

Genome research

University of Iceland

Johns Hopkins School of Medicine (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Iceland Oct 01 2018

Iceland

Associate Professor :: Pediatrics

National University Hospital of Iceland Jan 01 2018

Iceland

Clinical director :: Genetics

Johns Hopkins University Jul 01 2012

United States

Associate Professor :: Pediatrics/Genetics

Education History

Johns Hopkins School of Medicine Aug 15 2002 - Mar 29 2007

United States

PHD :: Genetics

Publications

Salvor Rafnsdottir, Kijin Jang, Sara Tholl Halldorsdottir, Arnhildur Tomasdottir, Meghna Vinod, Katrin Möller, Tinna Reynisdottir, Laufey Halla Atladottir, Kristin Elisabet Allison, Jin He, Li Zhang, Frances J Northington, Raul Chavez-Valdez, Kimberley Jade Anderson, Hans Tomas Bjornsson
SMYD5 is a novel epigenetic gatekeeper of the mild hypothermia response. bioRxiv : the preprint server for biology (2023)
Leandros Boukas, Teresa Romeo Luperchio, Afrooz Razi, Kaspar D Hansen, Hans Tomas Bjornsson
Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice. bioRxiv : the preprint server for biology (2023)
Christine W Gao, WanYing Lin, Ryan C Riddle, Priyanka Kushwaha, Leandros Boukas, Hans Tomas Bjornsson, Kaspar D Hansen, Jill A Fahrner
Novel mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition. bioRxiv : the preprint server for biology (2023)
Sangwoo T Han, Katherine J Anderson, Hans Tomas Bjornsson, Nicola Longo, David Valle
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia. Journal of inherited metabolic disease 45 (4) (2022)
Tinna Reynisdottir, Kimberley Jade Anderson, Leandros Boukas, Hans Tomas Bjornsson
Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2. PLoS genetics 18 (6) (2022)
Teresa Romeo Luperchio, Leandros Boukas, Li Zhang, Genay Pilarowski, Jenny Jiang, Allison J Kalinousky, Kasper D Hansen, Hans Tomas Bjornsson
Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation. eLife 10 (2021)
Deniz Aygun, Hans Tomas Bjornsson
Clinical epigenetics: a primer for the practitioner. Developmental medicine and child neurology 62 (2) (2019)
Teresa Romeo Luperchio, Carolyn D Applegate, Olaf A Bodamer, Hans Tomas Bjornsson
Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life. Molecular genetics & genomic medicine 8 (2) (2019)
Jacqueline Harris, E Mark Mahone, Hans Tomas Bjornsson
Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities. Journal of intellectual disability research : JIDR 63 (6) (2019)
Leandros Boukas, James M Havrilla, Peter F Hickey, Aaron R Quinlan, Hans Tomas Bjornsson, Kaspar D Hansen
Coexpression patterns define epigenetic regulators associated with neurological dysfunction. Genome research 29 (4) (2019)
Barbara R Migeon, Michael A Beer, Hans Tomas Bjornsson
Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X. PloS one 12 (4) (2017)
Sarah Bowdin, Adel Gilbert, Emma C Bedoukian, Christopher Carew, Margaret P Adam, John Belmont, Barbara A Bernhardt, Barbara B Biesecker, Hans Tomas Bjornsson, Miriam Blitzer, Lisa C A D'Alessandro, Matthew A Deardorff, Laurie Demmer, Alison M Elliott, Gerald L Feldman, Ian A Glass, Gail Herman, Lucia Hindorff, Fuki Hisama, Louanne Hudgins, A Micheil Innes, Laird Jackson, David L Veenstra, Raymond H Kim, Bruce R Korf, David H Ledbetter, Mindy Li, Eriskay Liston, Christian Marshall, Livija Medne, M Stephen Meyn, Nasim Monfared, Cynthia C Morton, John J Mulvihill, Sharon E Plon, Heidi Rehm, Amy Roberts, Cheryl Shuman, Nancy B Spinner, D James Stavropoulos, Kathleen D Valverde, Darrel J Waggoner, Alisha Wilkens, Ronald D Cohn, Ian D Krantz
Recommendations for the integration of genomics into clinical practice. Genetics in medicine : official journal of the American College of Medical Genetics 18 (11) (2016)

Hans Tomas Bjornsson.css-eqlu8i{font-size:small;padding-left:4px;} (Hans T Bjornsson, Hans T Björnsson, H T Bjornsson)

Publication Activity (10 Years)

Top Topics

Top Venues

Hans Tomas Bjornsson (Hans T Bjornsson, Hans T Björnsson, H T Bjornsson)