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Nature Genetics (3)
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Showing 1–8 of 8 results

Advanced filters: Author: Kathrin Grundmann Clear advanced filters

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

Here the authors compare genetic testing strategies in rare movement disorders, improve diagnostic yield with genome analysis, and establish CD99L2 as an X-linked spastic ataxia gene, showing that CD99L2–CAPN1 signaling disruption likely drives neurodegeneration.

Benita Menden
Rana D. Incebacak Eltemur
Tobias B. Haack
ResearchOpen Access14 Feb 2026
Nature Communications

P: 1-21
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
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
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

GestaltMatcher uses a deep convolutional neural network to improve recognition of rare disorders based on facial morphology. The framework detects similarities among patients with previously unseen syndromes, aiding discovery of new disease genes.

Tzung-Chien Hsieh
Aviram Bar-Haim
Peter M. Krawitz
Research10 Feb 2022
Nature Genetics

Volume: 54, P: 349-357
The IRF6 p.274V polymorphism is not a risk factor for isolated cleft lip

Robert Hering
Kathrin Grundmann
Correspondence01 Mar 2005
Genetics in Medicine

Volume: 7, P: 209
Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD

Kathrin Burgmaier
Samuel Kilian
Hulya Nalcacioglu
ResearchOpen Access04 Nov 2021
Scientific Reports

Volume: 11, P: 1-10
Clinical courses and complications of young adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Kathrin Burgmaier
Samuel Kilian
Max C. Liebau
ResearchOpen Access28 May 2019
Scientific Reports

Volume: 9, P: 1-11
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD)

Kathrin Burgmaier
Gema Ariceta
Hulya Nalcacioglu
ResearchOpen Access29 Sept 2020
Scientific Reports

Volume: 10, P: 1-12