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Birgit Popp
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14
Transparent NLP: Using RAG and LLM Alignment for Privacy Q&A
4 days ago by
Anna Leschanowsky
and
others
Computation and Language
Expert-Generated Privacy Q&A Dataset for Conversational AI and User Study Insights
3 February 2025 by
Anna Leschanowsky
and
others
Human-Computer Interaction
Incorporating Nanopore Sequencing into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti
30 January 2025 by
S. Ahting
and
others
Genetic and Genomic Medicine
Evaluating Privacy, Security, and Trust Perceptions in Conversational AI: A Systematic Review
13 June 2024 by
Anna Leschanowsky
and
others
Human-Computer Interaction
Experts-in-the-Loop: Establishing an Effective Workflow in Crafting Privacy Q&A
18 November 2023 by
Zahra Kolagar
and
others
Computation and Language
Re-evaluation and Re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 20%
18 July 2023 by
T. Bartolomaeus
and
others
Genetic and Genomic Medicine
aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment
25 January 2023 by
Joachim Schroeter
and
others
Bioinformatics
A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2
3 October 2022 by
Birgit Popp
and
others
Genetic and Genomic Medicine
Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study
13 September 2022 by
Birgit Popp
and
others
Genetic and Genomic Medicine
Prenatal phenotype of PNKP-related primary microcephaly associated with variants in the FHA and Phosphatase domain
25 October 2021 by
S. Neuser
and
others
Genetic and Genomic Medicine
'Exome first' approach can reduce diagnostic costs and time - retrospective single centre analysis of 111 individuals with rare neurodevelopmental disorders
25 October 2021 by
J. Klau
and
others
Genetic and Genomic Medicine
Clinical, neuroimaging and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
13 April 2021 by
S. Neuser
and
others
Genetic and Genomic Medicine
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
10 December 2020 by
C. KlöCkner
and
others
at
Leipzig
Genetic and Genomic Medicine
Panel Sequencing in Uterine Leiomyomas identifies Missense Mutations associated with immunohistochemical Fumarate Hydratase (FH)-Loss
1 July 2020 by
Birgit Popp
and
others
Pathology
Prenatal diagnosis of HNF1B-associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome?
9 September 2019 by
G. Vasileiou
and
others
Genetics
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
11 February 2019 by
M. Hebebrand
and
others
Genetics
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium
21 November 2018 by
Birgit Popp
and
others
Genomics
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Topics
Genetic and Genomic Medicine
Genetics
Human-Computer Interaction
Computation and Language
Bioinformatics
Pathology
Genomics