Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2
Reynisdottir, Tinna, Anderson, Kimberley Jade, Boukas, Leandros, Bjornsson, Hans Tomas
Published in PLoS genetics (01.06.2022)
Published in PLoS genetics (01.06.2022)
Get full text
Journal Article
Individuals with Wiedemann-Steiner syndrome show nonverbal reasoning and visuospatial defects with relative verbal skill sparing
Ng, Rowena, Harris, Jacqueline, Fahrner, Jill A., Bjornsson, Hans Tomas
Published in Journal of the International Neuropsychological Society (01.06.2023)
Published in Journal of the International Neuropsychological Society (01.06.2023)
Get full text
Journal Article
Anxiety in Wiedemann–Steiner syndrome
Ng, Rowena, Bjornsson, Hans Tomas, Fahrner, Jill A., Harris, Jacqueline
Published in American journal of medical genetics. Part A (01.02.2023)
Published in American journal of medical genetics. Part A (01.02.2023)
Get full text
Journal Article
The social phenotype associated with Wiedemann-Steiner syndrome: Autistic traits juxtaposed with high social drive and prosociality
Ng, Rowena, Kalinousky, Allison, Fahrner, Jill A, Bjornsson, Hans Tomas, Harris, Jacqueline
Published in American journal of medical genetics. Part A (01.10.2023)
Published in American journal of medical genetics. Part A (01.10.2023)
Get full text
Journal Article
Neurobehavioral phenotype of Kabuki syndrome: Anxiety is a common feature
Kalinousky, Allison J, Rapp, Tyler, Hijazi, Hadia, Johnson, Jennifer, Bjornsson, Hans Tomas, Harris, Jacqueline R
Published in Frontiers in genetics (06.10.2022)
Published in Frontiers in genetics (06.10.2022)
Get full text
Journal Article
Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse model
Goodman, Sarah Jessica, Luperchio, Teresa Romeo, Ellegood, Jacob, Chater-Diehl, Eric, Lerch, Jason P, Bjornsson, Hans Tomas, Weksberg, Rosanna
Published in Clinical epigenetics (27.10.2023)
Published in Clinical epigenetics (27.10.2023)
Get full text
Journal Article
Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndrome
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
Published in Molecular therapy. Methods & clinical development (12.03.2021)
Published in Molecular therapy. Methods & clinical development (12.03.2021)
Get full text
Journal Article
Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases
Koenig, Mary Kay, Russo, Sam Nick, McBride, Kim L., Bjornsson, Hans Tomas, Gunnarsdottir, Brynja Bjork, Goldstein, Amy, Falk, Scott A.
Published in JIMD reports (01.01.2023)
Published in JIMD reports (01.01.2023)
Get full text
Journal Article
Early cardiomyopathy without severe metabolic dysregulation in a patient with cblB‐type methylmalonic acidemia
Agnarsdóttir, Dagbjört, Sigurjónsdóttir, Vaka Kristín, Emilsdóttir, Arna Rut, Petersen, Erna, Sigfússon, Gunnlaugur, Rögnvaldsson, Ingólfur, Franzson, Leifur, Vernon, Hilary, Bjornsson, Hans Tomas
Published in Molecular genetics & genomic medicine (01.07.2022)
Published in Molecular genetics & genomic medicine (01.07.2022)
Get full text
Journal Article
A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries
Palsdottir, Astridur, Helgason, Agnar, Palsson, Snaebjorn, Bjornsson, Hans Tomas, Bragason, Birkir Thor, Gretarsdottir, Solveig, Thorsteinsdottir, Unnur, Olafsson, Elias, Stefansson, Kari
Published in PLoS genetics (01.06.2008)
Published in PLoS genetics (01.06.2008)
Get full text
Journal Article
A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome
Klemenzdottir, Elin Ola, Arnadottir, Gudny Anna, Jensson, Brynjar Orn, Jonasdottir, Adalbjorg, Katrinardottir, Hildigunnur, Fridriksdottir, Run, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Gudjonsson, Sigurjon Axel, Jonsson, Jon Johannes, Stefansdottir, Vigdis, Danielsen, Ragnar, Palsdottir, Astridur, Jonsson, Hakon, Helgason, Agnar, Magnusson, Olafur Thor, Thorsteinsdottir, Unnur, Bjornsson, Hans Tomas, Stefansson, Kari, Sulem, Patrick
Published in European journal of human genetics : EJHG (01.01.2024)
Published in European journal of human genetics : EJHG (01.01.2024)
Get full text
Journal Article
Unique profile of academic learning difficulties in Wiedemann–Steiner syndrome
Ng, R., Bjornsson, H. T., Fahrner, J. A., Harris, J.
Published in Journal of intellectual disability research (01.02.2023)
Published in Journal of intellectual disability research (01.02.2023)
Get full text
Journal Article
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder
Seaby, Eleanor G, Godwin, Annie, Meyer-Dilhet, Géraldine, Clerc, Valentine, Grand, Xavier, Fletcher, Tia, Monteiro, Laloe, Kerkhofs, Martijn, Carelli, Valerio, Palombo, Flavia, Seri, Marco, Olivucci, Giulia, Grippa, Mina, Ciaccio, Claudia, D'Arrigo, Stefano, Iascone, Maria, Bermudez, Marion, Fischer, Jan, Di Donato, Nataliya, Goesswein, Sophie, Leung, Marco L, Koboldt, Daniel C, Myers, Cortlandt, Arnadottir, Gudny Anna, Stefansson, Kari, Sulem, Patrick, Goldberg, Ethan M, Bruel, Ange-Line, Tran Mau Them, Frederic, Willems, Marjolaine, Bjornsson, Hans Tomas, Hognason, Hakon Bjorn, Thorolfsdottir, Eirny Tholl, Agolini, Emanuele, Novelli, Antonio, Zampino, Giuseppe, Onesimo, Roberta, Lachlan, Katherine, Baralle, Diana, Rehm, Heidi L, O'Donnell-Luria, Anne, Courchet, Julien, Guille, Matt, Bourgeois, Cyril F, Ennis, Sarah
Published in Brain (London, England : 1878) (15.10.2024)
Published in Brain (London, England : 1878) (15.10.2024)
Get full text
Journal Article
SMYD5 is a regulator of the mild hypothermia response
Rafnsdottir, Salvor, Jang, Kijin, Halldorsdottir, Sara Tholl, Vinod, Meghna, Tomasdottir, Arnhildur, Möller, Katrin, Halldorsdottir, Katrin, Reynisdottir, Tinna, Atladottir, Laufey Halla, Allison, Kristin Elisabet, Ostacolo, Kevin, He, Jin, Zhang, Li, Northington, Frances J., Magnusdottir, Erna, Chavez-Valdez, Raul, Anderson, Kimberley Jade, Bjornsson, Hans Tomas
Published in Cell reports (Cambridge) (27.08.2024)
Published in Cell reports (Cambridge) (27.08.2024)
Get full text
Journal Article