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European Journal of Human Genetics (6)
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Showing 1–11 of 11 results

Advanced filters: Author: Alexandra Schröck Clear advanced filters

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Exome sequencing within a structured diagnostic process for rare diseases in Germany shows how facial image analysis and machine learning can guide variant prioritization and uncover many ultrarare diseases.

Axel Schmidt
Magdalena Danyel
Matias Wagner
ResearchOpen Access22 Jul 2024
Nature Genetics

Volume: 56, P: 1644-1653
Correction to: Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga
Carles Hernández-Ferrer
Andreas Rump
Amendments and Corrections16 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1466-1469
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt
Magdalena Danyel
Matias Wagner
Amendments and CorrectionsOpen Access24 Jun 2025
Nature Genetics

Volume: 57, P: 1790-1791
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Rebecca Schüle
Dagmar Timmann
Andreas Rump
Amendments and Corrections25 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1462-1465
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Leslie Matalonga
Carles Hernández-Ferrer
Andreas Rump
ResearchOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1337-1347
Correction to: Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek
Kornelia Ellwanger
Andreas Rump
Amendments and Corrections13 Aug 2021
European Journal of Human Genetics

Volume: 29, P: 1459-1461
Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC

Alexandra A. Baumann
Lisanne I. Knol
Arne Jahn
ResearchOpen Access04 Apr 2025
npj Genomic Medicine

Volume: 10, P: 1-8
Quantitative determination of phosphatidylethanol in dried blood spots for monitoring alcohol abstinence

Phosphatidylethanol (PEth) is a metabolite of ethanol that can be used as a stable, direct marker of alcohol usage. This protocol describes how to determine the concentration of PEth in dry blood spots via manual or automated extraction followed by LC-MS/MS.

Marc Luginbühl
Frederike Stöth
Wolfgang Weinmann
Protocols07 Dec 2020
Nature Protocols

Volume: 16, P: 283-308
Solving unsolved rare neurological diseases—a Solve-RD viewpoint

Rebecca Schüle
Dagmar Timmann
Andreas Rump
ReviewsOpen Access10 May 2021
European Journal of Human Genetics

Volume: 29, P: 1332-1336
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

German Demidov
Burcu Yaldiz
Steven Laurie
ResearchOpen Access26 Oct 2024
npj Genomic Medicine

Volume: 9, P: 1-24
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek
Kornelia Ellwanger
Andreas Rump
ReviewsOpen Access01 Jun 2021
European Journal of Human Genetics

Volume: 29, P: 1325-1331