Ton van Essen

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Claire Navarro, Annachiara De Sandre‐Giovannoli, Rafaëlle Bernard et al. · Human Molecular Genetics · 2004 · 368 citations · Full text

Medicine, Genetics, Molecular Genetics +17

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

M. Doornbos, Birgit Sikkema‐Raddatz, Claudia A.L. Ruijvenkamp et al. · European Journal of Medical Genetics · 2009 · 167 citations

Life Sciences, Genetics, Psychiatry +9

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Lot Snijders Blok, Justine Rousseau, Joanna Twist et al. · Nature Communications · 2018 · 121 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome

Saskia M. Maas, Adam Shaw, Hennie Bikker et al. · European Journal of Medical Genetics · 2015 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5