Vera Kalscheuer

Regulation of the MID1 protein function is fine-tuned by a complex pattern of alternative splicing

Andreas Kulozik, Marie-Laure Yaspo, Rainer Schneider, 2004, Human Genetics.

Mapping translocation breakpoints by next-generation sequencing.

Martin Vingron, Marcel H. Schulz, Fikret Erdogan, 2008, Genome research.

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Hao Hu, Hugues Richard, Stefan A. Haas, 2009, The HUGO Journal.

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

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

Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability

Thomas Bourgeron, Richard Delorme, Marion Leboyer, 2011, BMC Medical Genetics.

Germline KRAS mutations cause Noonan syndrome

Kam Y. J. Zhang, Erik Sistermans, Kam Y J Zhang, 2006, Nature Genetics.

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Wei Chen, Reinhard Ullmann, Dagmar Wieczorek, 2011, Nature.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

Statistical Applications in Genetics and Molecular Biology Modeling Read Counts for CNV Detection in Exome Sequencing Data

Martin Vingron, Michael I Love, Alena Myšičková, 2011 .