Ron Hochstenbach

Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Heather C. Mefford, Andrew J. Sharp, Carl Baker et al. · New England Journal of Medicine · 2008 · 811 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

Wigard P. Kloosterman, Victor Guryev, Mark van Roosmalen et al. · Human Molecular Genetics · 2011 · 324 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease

Saskia N. van der Crabben, Marije P. Hennus, Grant A. McGregor et al. · Journal of Clinical Investigation · 2016 · 111 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genetic variants in the <i>KDM6B</i> gene are associated with neurodevelopmental delays and dysmorphic features

Elliot Stolerman, E. Nicolás Francisco, Jennifer L. Stallworth et al. · American Journal of Medical Genetics Part A · 2019 · 53 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Deciphering the pathogenic consequences of chromosomal aberrations in human genetic disease

Wigard P. Kloosterman, Ron Hochstenbach · Molecular Cytogenetics · 2014 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17