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Human Mutation|December 16, 2014
Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disabilityLars Björn Riecken, Hasan Tawamie, Carsten Dornblut, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 5, 2022
De novo variants in the PABP domain of PABPC1 lead to developmental delayMeret Wegler, Xiangbin Jia, Marielle Alders, et al.
European Journal of Human Genetics : EJHG|April 3, 2023
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohortPaolo Zanoni, Katharina Steindl, Heinrich Sticht, et al.
Plos Pathogens|August 20, 2011
B cell repertoire analysis identifies new antigenic domains on glycoprotein B of human cytomegalovirus which are target of neutralizing antibodiesSonja Pötzsch, Nadja Spindler, Anna-Katharina Wiegers, et al.
Molecular Cancer|September 26, 2024
A high proportion of germline variants in pediatric chronic myeloid leukemiaManuela Krumbholz, Anna Dolnik, Eric Sträng, et al.
International Journal of Molecular Sciences|October 14, 2022
Highly Conserved Interaction Profiles between Clinically Relevant Mutants of the Cytomegalovirus CDK-like Kinase pUL97 and Human Cyclins: Functional Significance of Cyclin HMartin Schütz, Regina Müller, Eileen Socher, et al.
Plos Pathogens|April 22, 2026
Live attenuated vaccination protects aged chimeric ACE2 mice from severe SARS-CoV-2 pathogenicity in vivoAlina Russ, Vera Viherlehto, Stefanie Brey, et al.
Nature Communications|December 18, 2019
T4SS-dependent TLR5 activation by Helicobacter pylori infectionSuneesh Kumar Pachathundikandi, Nicole Tegtmeyer, Isabelle Catherine Arnold, et al.
Clinical Genetics|July 30, 2022
The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndromeBernt Popp, Thierry Bienvenu, Irina Giurgea, et al.
American Journal of Human Genetics|October 28, 2005
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulatorChristian T Thiel, Denise Horn, Bernhard Zabel, et al.
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