Magdalena Danyel

发表

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

M. Nöthen, D. Horn, S. Mundlos, 2021, medRxiv.

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

D. Horn, S. Mundlos, M. Spielmann, 2020, Journal of medical Internet research.

Autosomal dominant Robinow syndrome associated with a novel DVL3 splice mutation

D. Horn, F. Kortüm, K. Kutsche, 2018, American journal of medical genetics. Part A.

Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability, short stature, microcephaly and Dent disease: a case report

D. Horn, Alexej Knaus, E. Suk, 2019, BMC Medical Genomics.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

M. Nöthen, D. Horn, S. Mundlos, 2022, Nature Genetics.

PEDIA: prioritization of exome data by image analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018, Genetics in Medicine.

Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings

D. Horn, S. Mundlos, J. Pantel, 2019, European Journal of Human Genetics.

Evaluation of the role of STAP1 in Familial Hypercholesterolemia

A. Hicks, E. Steinhagen-Thiessen, I. Demuth, 2019, Scientific Reports.

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

D. Horn, S. Mundlos, M. Spielmann, 2022, Nature Genetics.

CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph

H. Fröhlich, Alexej Knaus, N. Fleischer, 2021, medRxiv.

Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals

J. Lupski, D. Seelow, D. Horn, 2023, European Journal of Human Genetics.

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

Heinen, Heiko, Kehrer, 2023, medRxiv.

Biallelic known and novel DCDC2 variants in cholestatic liver disease: Phenotype–genotype observations in four children

C. Mache, P. Bufler, Magdalena Danyel, 2023, Liver international : official journal of the International Association for the Study of the Liver.

Case report: KPTN gene-related syndrome associated with a spectrum of neurodevelopmental anomalies including severe epilepsy

A. Kaindl, S. Biskup, C. Gunnarsson, 2023, Frontiers in Neurology.

PEDIA: prioritization of exome data by image analysis

M. Nöthen, O. Bar, S. Köhler, 2018, Genetics in Medicine.

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study (Preprint)

D. Horn, S. Mundlos, M. Spielmann, 2020 .

Three-Dimensional Histological Characterization of the Placental Vasculature Using Light Sheet Microscopy

R. Dechend, C. Witzel, Hanna H. Allerkamp, 2023, Biomolecules.