Malte Spielmann

PEDIA: prioritization of exome data by image analysis

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

PEDIA: Prioritization of Exome Data by Image Analysis

Borut Peterlin, Sebastian Köhler, Na Zhu, 2018 .

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.

Giorgio Valentini, Tudor Groza, Harry Hochheiser, 2016, American journal of human genetics.

Looking beyond the genes: the role of non-coding variants in human disease.

Stefan Mundlos, Malte Spielmann, S. Mundlos, 2016, Human molecular genetics.

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice.

Stefan Mundlos, Malte Spielmann, Guillaume Andrey, 2015, Cell reports.

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases.

Martin Vingron, Stefan Mundlos, Manuel Holtgrewe, 2020, American journal of human genetics.

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Na Zhu, 2014, American journal of human genetics.

Dynamic 3D chromatin architecture contributes to enhancer specificity and limb morphogenesis

Martin Vingron, Axel Visel, Simona Bianco, 2018, Nature Genetics.

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Damian Smedley, Yves Moreau, Melissa Haendel, 2014, Science Translational Medicine.