M. Mensah

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.

Biallelic intragenic deletion in MASP1 in an adult female with 3MC syndrome.

A. Ekici, E. Klopocki, C. Thiel, 2018, European journal of medical genetics.

Advances in computer-assisted syndrome recognition and differentiation in a set of metabolic disorders

S. Mundlos, J. Pantel, Nurulhuda Hajjir, 2017, bioRxiv.

Microcephaly, short stature, and limb abnormality disorder due to novel autosomal biallelic DONSON mutations in two German siblings

D. Schindler, U. Schneider, B. Romeike, 2018, European Journal of Human Genetics.

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

S. Mundlos, J. Pantel, Nurulhuda Hajjir, 2018, Journal of Inherited Metabolic Disease.

A machine learning-based screening tool for genetic syndromes in children.

D. Horn, J. Pantel, C. Ott, 2022, The Lancet. Digital health.

Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin

T. Klockgether, M. Sturm, M. Synofzik, 2022, Movement disorders : official journal of the Movement Disorder Society.

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.

S. Mundlos, M. Holtgrewe, F. Santos-Simarro, 2020, American journal of medical genetics. Part A.