M. Schwarz

Natural history of KBG syndrome in a large European cohort

N. Brunetti‐Pierri, F. Santorelli, T. Reimand, 2022, Human molecular genetics.

A prospective controlled assessment of microneedling with the Dermaroller device.

H. Laaff, M. Schwarz, 2011, Plastic and reconstructive surgery.

Nail Regeneration by Elongation of the Partially Destroyed Nail Bed

G. Lemperle, S. Lemperle, M. Schwarz, 2003, Plastic and reconstructive surgery.

Solving patients with rare diseases through programmatic reanalysis of genome-phenome data

Pieter B. T. Neerincx, Spencer J. Gibson, Farid Yavari Dizjikan, 2021, European Journal of Human Genetics.

A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis

L. Vissers, A. Hoischen, J. Clayton-Smith, 2021, European Journal of Human Genetics.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.

Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder.

V. Moslerová, M. Turnovec, J. Velemínská, 2024, Scientific reports.

The Human Phenotype Ontology in 2024: phenotypes around the world

Benjamin M. Gyori, Julius O. B. Jacobsen, Janice M. Fullerton, 2023, Nucleic acids research.