Bjornsson Hans T - Mckusick-Nathans Department of Genetic Medicine, Johns Hopkins University

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论文共 92 篇作者统计合作学者相似作者

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Automated Fingerprint Analysis As a Diagnostic Tool for the Genetic Disorder Kabuki Syndrome

Viktor Ingi Agustsson, Pall Asgeir Bjornsson, Ashildur Friðriksdottir,Hans Tomas Bjornsson,Lotta Maria Ellingsen

Genetics in Medicine Openpp.101884, (2024)

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A Mouse Model of Weaver Syndrome Displays Overgrowth and Excess Osteogenesis Reversible with KDM6A/6B Inhibition

Christine W. Gao, Wanting Lin,Ryan C. Riddle,Priyanka Kushwaha,Leandros Boukas,Hans T. Bjornsson,Kasper D. Hansen,Jill A. Fahrner

JCI INSIGHTno. 1 (2024)

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Five Years of Experience in the Epigenetics and Chromatin Clinic: What Have We Learned and Where Do We Go from Here

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

HUMAN GENETICS（2024）

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KMT2D Regulates Activation, Localization, and Integrin Expression by T-cells

Sarah J. Potter, Li Zhang,Michael Kotliar,Yuehong Wu,Caitlin Schafer, Kurtis Stefan,Leandros Boukas,Dima Qu'd,Olaf Bodamer,Brittany N. Simpson,Artem Barski,Andrew W. Lindsley,Hans T. Bjornsson

FRONTIERS IN IMMUNOLOGY（2024）

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Monoallelic De Novo Variants in DDX17 Cause a Neurodevelopmental Disorder

Eleanor G Seaby,Annie Godwin,Géraldine Meyer-Dilhet, Valentine Clerc,Xavier Grand, Tia Fletcher,Laloe Monteiro, Martijn Kerkhofs,Valerio Carelli,Flavia Palombo,Marco Seri,Giulia Olivucci,Mina Grippa,Claudia Ciaccio,Stefano D'Arrigo,Maria Iascone, Marion Bermudez,Jan Fischer,Nataliya Di Donato, Sophie Goesswein,Marco L Leung,Daniel C Koboldt,Cortlandt Myers,Gudny Anna Arnadottir,Kari Stefansson,Patrick Sulem,Ethan M Goldberg,Ange-Line Bruel,Frederic Tran Mau Them,Marjolaine Willems,Hans Tomas Bjornsson,Hakon Bjorn Hognason, Eirny Tholl Thorolfsdottir,Emanuele Agolini,Antonio Novelli,Giuseppe Zampino,Roberta Onesimo,Katherine Lachlan,Diana Baralle,Heidi L Rehm,Anne O'Donnell-Luria,Julien Courchet,Matt Guille,Cyril F Bourgeois,Sarah Ennis

Brain a journal of neurology (2024)

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Growth Deficiency in a Mouse Model of Kabuki Syndrome 2 Bears Mechanistic Similarities to Kabuki Syndrome 1

Christine W. Gao,WanYing. Lin,Ryan C. Riddle,Sheetal. Chopra, Jiyoung Kim,Leandros Boukas, Kasper D. Hansen,Hans T. Bjornsson,Jill A. Fahrner

PLOS GENETICSno. 6 (2024)

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Biallelic Loss of Molecular Chaperone Molecule AIP Results in a Novel Severe Multisystem Disease Defined by Defective Proteostasis

Marta Korbonits, Xian Wang,Sayka Barry, Chung Lim,Oniz Suleyman, Stefano De-Tito, Nazia Begum,Maria Lillina Vignola,Charlotte Hall,Laura Perna,Paul Chapple, Sian Henson,Valle Morales,Katiuscia Bianchi, Vidar Orn Edvardsson, Kristjan Ari Ragnarsson, Viktoria Eir Kristinsdottir, Anne Debeer,Yoeri Sleyp,Rena Zinchenko,Glenn Anderson,Michael Duchen,Kritarth Singh,Chih-Yao Chung,Yu Yuan,Sandip Patel,Ezra Aksoy,Artem O Borovikov,Hans Tomas Bjornsson,Hilde Van Esch,Gabor Czibik,Sharon Tooze,Caroline Helen Brennan,Oliver Haworth

biorxiv（2024）

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SMYD5 is a Regulator of the Mild Hypothermia Response

Salvor Rafnsdottir, Kijin Jang, Sara Tholl Halldorsdottir,Meghna Vinod, Arnhildur Tomasdottir,Katrin Moller,Katrin Halldorsdottir,Tinna Reynisdottir,Laufey Halla Atladottir, Kristin Elisabet Allison,Kevin Ostacolo,Jin He,Li Zhang,Frances J. Northington,Erna Magnusdottir,Raul Chavez-Valdez,Kimberley Jade Anderson,Hans Tomas Bjornsson

CELL REPORTSno. 8 (2024)

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In-utero rescue of neurological dysfunction in a mouse model of Wiedemann-Steiner syndrome

Tinna Reynisdottir,Kimberley Jade Anderson, Andrew Brinn, Katie Franklin, Juan Ouyang,Asbjorg Osk Snorradottir,Cathleen M. Lutz,Aamir R. Zuberi,Valerie Burke DeLeon,Hans Tomas Bjornsson

biorxiv（2024）

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