M.-L. Bondeson

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

Hao Hu, Stefan A. Haas, Jamel Chelly et al. · Molecular Psychiatry · 2015 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni et al. · Human Molecular Genetics · 2014 · 142 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Candidate Gene Association Study for Noise‐induced Hearing Loss in Two Independent Noise‐exposed Populations

Annelies Konings, L. Van Laer, Aneta Wiktorek-Smagur et al. · Annals of Human Genetics · 2009 · 80 citations

Life Sciences, Genetics, Molecular Genetics +17

Molecular and phenotypic variation in patients with severe Hunter syndrome

Kirsten M. Timms, M.-L. Bondeson, M. Ali Ansari‐Lari et al. · Human Molecular Genetics · 1997 · 78 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

A-M Molin, Joris Andrieux, David A. Koolen et al. · Journal of Medical Genetics · 2011 · 57 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17