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Author Details

Axel Schmidt
Institute of Human Genetics, University Hospital Bonn
2018
17
7
PMIDPaper TitleJournal TitlePublished Year
37924258De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.Genet Med2024
37365401Episignature analysis of moderate effects and mosaics.Eur J Hum Genet2023
37560881Variants in FGF10 cause early onset of severe childhood interstitial lung disease: A detailed description of four affected children.Pediatr Pulmonol2023
37531237Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.Hum Mol Genet2023
37084271Predicting the pathogenicity of missense variants using features derived from AlphaFold2.Bioinformatics2023
35145301GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.Nat Genet2022
35699229Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD<sub>ND</sub> ): Time to Move Beyond the Skin.Mov Disord2022
35574268Reconstruction of the origin of the first major SARS-CoV-2 outbreak in Germany.Comput Struct Biotechnol J2022
36589413Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of <i>de novo</i> mutations.HGG Adv2022
36104871Next-generation phenotyping contributing to the identification of a 4.7 kb deletion in KANSL1 causing Koolen-de Vries syndrome.Hum Mutat2022
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
35101171Genetic Predisposition and the Variable Course of Infectious Diseases.Dtsch Arztebl Int2022
34889978Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.Hum Genet2022
34318586Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes.Am J Med Genet A2021
34210994TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19.NPJ Genom Med2021
32926178Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing.Acta Derm Venereol2020
29796876De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.Hum Genet2018
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Collaborators

Kerstin U Ludwig
Institute of Human Genetics, University of Bonn
Co-authored papers 6
Peter M Krawitz
Institute for Genomic Statistics and Bioinformatics, University of Bonn
Co-authored papers 4
Markus M N??then
Institute of Human Genetics, University Hospital Bonn
Co-authored papers 2
Francesca Mari
Institute de Pathologie et de Genetique ASBL
Co-authored papers 2
Eva C Schulte
Institute of Psychiatric Phenomics and Genomics (IPPG), LMU University Hospital
Co-authored papers 2
John Kenneth Baillie
Roslin Institute, University of Edinburgh
Co-authored papers 2
Robert Frithiof
Uppsala University
Co-authored papers 2
Guillaume Butler-Laporte
McGill University
Co-authored papers 2
Alessandra Renieri
University of Siena
Co-authored papers 2
Miklos Lipcsey
Uppsala University
Co-authored papers 2
Michael Hultstr??m
Uppsala University
Co-authored papers 2
John Brent Richards
Lady Davis Institute for Medical Research, Jewish General Hospital
Co-authored papers 2
Simone Furini
Department of Medical Biotechnologies, University of Siena
Co-authored papers 2
Szymon Pula
Co-authored papers 1
Noam D Beckmann
Icahn School of Medicine at Mount Sinai.
Co-authored papers 1
Antonio Salas
Instituto de Investigacion Sanitaria de Santiago
Co-authored papers 1
Timothy Sanders
David Geffen School of Medicine, University of California-Los Angeles
Co-authored papers 1
Nicole Simons
Icahn School of Medicine at Mount Sinai
Co-authored papers 1
Efren Sandoval
Co-authored papers 1
Carlo Rivolta
Institute of Molecular and Clinical Ophthalmology Basel (IOB)
Co-authored papers 1
Monnat Pongpanich
Chulalongkorn University
Co-authored papers 1
Catherine A Brownstein
Harvard Medical School.
Co-authored papers 1
Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 1
Joseph D Buxbaum
Icahn School of Medicine at Mount Sinai
Co-authored papers 1
Francisco Tanudjaja
Co-authored papers 1
Mateusz Sypniewski
MNM Bioscience Inc.
Co-authored papers 1
Yanara Marincevic-Zuniga
Uppsala University
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Alexandre Bolze
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