A. Jeannette M. Hoogeboom

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

Johannes G. Dauwerse, Jill Dixon, Saskia Seland et al. · Nature Genetics · 2010 · 368 citations

Life Sciences, Genetics, Molecular Genetics +7

Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Vikram Sharma, Aimée L Fenwick, Mia Brockop et al. · Nature Genetics · 2013 · 224 citations

Dentistry, Molecular Biology, Molecular Genetics +16

Frontorhiny, a Distinctive Presentation of Frontonasal Dysplasia Caused by Recessive Mutations in the ALX3 Homeobox Gene

Stephen R.F. Twigg, Sarah L. Versnel, Gudrun Nürnberg et al. · The American Journal of Human Genetics · 2009 · 139 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Long-term functional outcome in 167 patients with syndromic craniosynostosis; defining a syndrome-specific risk profile

T de Jong, Natalja Bannink, Hansje Bredero-Boelhouwer et al. · Journal of Plastic Reconstructive & Aesthetic Surgery · 2009 · 125 citations

Medicine, Neurological Surgery, Neurosurgery +12

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