Author

Ina Sorge

University Hospital LeipzigORCID 0000-0002-8992-5637Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Johannes R. LemkeiD· 2 shared Julia HentscheliD· 2 shared Rami Abou JamraiD· 2 shared Abdolmajid Omrani· 1 shared Abdullah AlamriiD· 1 shared Amal Mohammed AlhashemiD· 1 shared André EX BrowniD· 1 shared Andreas RumpiD· 1 shared

Activity by Year

2022-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 39 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Johannes R. LemkeORCID

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2 papers

Recent·Most cited

A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2

Bernt Popp, Melanie Brügger, Sibylle Poschmann, Tobias Bartolomaeus, Maximilian Radtke, Julia Hentschel, Nataliya Di Donato, Andreas Rump, Janina Gburek‐Augustat, Elisabeth Graf, Matias Wagner, Ina Sorge, Johannes R. Lemke, Thomas Meitinger, Rami Abou Jamra, , Theresa Brunet

The paper identifies a novel syndrome caused by the gain-of-function variant p.Glu1099Lys in NSD2, leading to distinct clinical features compared to loss-of-function variants.

Clinical Genetics · Oct 3, 2022Peer-reviewedGenetic & Genomic Medicine

Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy and periventricular calcifications

Erik Rosenhahn, Thomas James O’Brien, Maha Saad Zaki, Ina Sorge, Dagmar Wieczorek, Kevin M. Rostasy, Antonio Vitobello, Sophie Nambot, Fowzan Sami Alkuraya, Mais O. Hashem, Amal Mohammed Alhashem, Brahim M. Tabarki, Abdullah Alamri, Ayat H. Al Safar, Dalal Bubshait, , Konrad Platzer

The American Journal of Human Genetics · Jul 12, 2022Peer-reviewedGenetic & Genomic Medicine