The Mendelian disorders of the epigenetic machinery

por Bjornsson, Hans Tomas
Publicado 2015

Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active X

por Migeon, Barbara R., Beer, Michael A., Bjornsson, Hans T.
Publicado 2017

A Qualitative Study to Characterize the Humanistic Burden of Kabuki Syndrome in the United States and Canada

por Theodore-Oklota, Christina, Hartman, Deborah S., Hoffman, Deborah L., Björnsson, Hans T.
Publicado 2021

Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2

por Reynisdottir, Tinna, Anderson, Kimberley Jade, Boukas, Leandros, Bjornsson, Hans Tomas
Publicado 2022

Sleep disturbances correlate with behavioral problems among individuals with Wiedemann-Steiner syndrome

por Ng, Rowena, Bjornsson, Hans Tomas, Fahrner, Jill A., Harris, Jacqueline
Publicado 2022

The distribution of a germline methylation marker suggests a regional mechanism of LINE-1 silencing by the piRNA-PIWI system

por Sigurdsson, Martin I, Smith, Albert V, Bjornsson, Hans T, Jonsson, Jon J
Publicado 2012

Haploinsufficiency of KMT2D is sufficient to cause Kabuki syndrome and is compatible with life

por Luperchio, Teresa Romeo, Applegate, Carolyn D., Bodamer, Olaf, Bjornsson, Hans Tomas
Publicado 2019

Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice

por Boukas, Leandros, Luperchio, Teresa Romeo, Razi, Afrooz, Hansen, Kasper D., Bjornsson, Hans T.
Publicado 2023

Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature

por Kalinousky, Allison J., Rapp, Tyler, Hijazi, Hadia, Johnson, Jennifer, Bjornsson, Hans Tomas, Harris, Jacqueline R.
Publicado 2022

Coexpression patterns define epigenetic regulators associated with neurological dysfunction

por Boukas, Leandros, Havrilla, James M., Hickey, Peter F., Quinlan, Aaron R., Bjornsson, Hans T., Hansen, Kasper D.
Publicado 2019

Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?

por Harris, Jacqueline R., Gao, Christine W., Britton, Jacquelyn F., Applegate, Carolyn D., Bjornsson, Hans T., Fahrner, Jill A.
Publicado 2023

Caregiver‐reported clinical characteristics and the burden associated with Kabuki syndrome

por Theodore‐Oklota, Christina, Egan, Shayna, Paulich, Maggie, Evans, Christopher J., Hartman, Deborah S., Hoffman, Deborah L., Björnsson, Hans T.
Publicado 2020

Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation

por Luperchio, Teresa Romeo, Boukas, Leandros, Zhang, Li, Pilarowski, Genay, Jiang, Jenny, Kalinousky, Allison, Hansen, Kasper D, Bjornsson, Hans T
Publicado 2021

Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse model

por Goodman, Sarah Jessica, Luperchio, Teresa Romeo, Ellegood, Jacob, Chater-Diehl, Eric, Lerch, Jason P., Bjornsson, Hans Tomas, Weksberg, Rosanna
Publicado 2023

A Drastic Reduction in the Life Span of Cystatin C L68Q Carriers Due to Life-Style Changes during the Last Two Centuries

por Palsdottir, Astridur, Helgason, Agnar, Palsson, Snaebjorn, Bjornsson, Hans Tomas, Bragason, Birkir Thor, Gretarsdottir, Solveig, Thorsteinsdottir, Unnur, Olafsson, Elias, Stefansson, Kari
Publicado 2008

Novel mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition

por Gao, Christine W, Lin, WanYing, Riddle, Ryan C, Kushwaha, Priyanka, Boukas, Leandros, Björnsson, Hans T, Hansen, Kasper D, Fahrner, Jill A
Publicado 2023

Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB‐type methylmalonic acidemia

por Agnarsdóttir, Dagbjört, Sigurjónsdóttir, Vaka Kristín, Emilsdóttir, Arna Rut, Petersen, Erna, Sigfússon, Gunnlaugur, Rögnvaldsson, Ingólfur, Franzson, Leifur, Vernon, Hilary, Bjornsson, Hans Tomas
Publicado 2022

Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases

por Koenig, Mary Kay, Russo, Sam Nick, McBride, Kim L., Bjornsson, Hans Tomas, Gunnarsdottir, Brynja Bjork, Goldstein, Amy, Falk, Scott A.
Publicado 2022

Universal prediction of cell-cycle position using transfer learning

por Zheng, Shijie C., Stein-O’Brien, Genevieve, Augustin, Jonathan J., Slosberg, Jared, Carosso, Giovanni A., Winer, Briana, Shin, Gloria, Bjornsson, Hans T., Goff, Loyal A., Hansen, Kasper D.
Publicado 2022

Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndrome

por Zhang, Li, Pilarowski, Genay, Pich, Emilio Merlo, Nakatani, Atsushi, Dunlop, John, Baba, Rina, Matsuda, Satoru, Daini, Masaki, Hattori, Yasushi, Matsumoto, Shigemitsu, Ito, Mitsuhiro, Kimura, Haruhide, Bjornsson, Hans Tomas
Publicado 2021