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Publications by Stefan Mundlos

Identifying Cis Elements for Spatiotemporal Control of Mammalian DNA Replication

Molecular Biology

English

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

American Journal of Human Genetics

English

Homeotic Arm-To-Leg Transformation Associated With Genomic Rearrangements at the PITX1 Locus

American Journal of Human Genetics

English

Preformed Chromatin Topology Assists Transcriptional Robustness of SHH During Limb Development

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English

Deletions of the RUNX2 Gene Are Present in About 10% of Individuals With Cleidocranial Dysplasia

English

Duplication of PTHLH Causes Osteochondroplasia With a Combined Brachydactyly Type E/A1 Phenotype With Disturbed Bone Maturation and Rhizomelia

European Journal of Human Genetics

English

Missense Variant in CCDC22 Causes X-Linked Recessive Intellectual Disability With Features of Ritscher-Schinzel/3c Syndrome

European Journal of Human Genetics

English

Proximal Microdeletions and Microduplications of 1q21.1 Contribute to Variable Abnormal Phenotypes

European Journal of Human Genetics

English

GOPHER: Generator of Probes for Capture Hi-C Experiments at High Resolution

English

Severe Congenital Cutis Laxa With Cardiovascular Manifestations Due to Homozygous Deletions in ALDH18A1

Molecular Genetics and Metabolism

Molecular Biology

English