Johanna M. van Hagen

CHARGE syndrome: the phenotypic spectrum of mutations in the <i>CHD7</i> gene

M.C.J. Jongmans, R.J.C. Admiraal, Kim P. van der Donk et al. · Journal of Medical Genetics · 2005 · 458 citations · Full text

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

Simone Martinelli, Alessandro De Luca, Emilia Stellacci et al. · The American Journal of Human Genetics · 2010 · 254 citations · Full text

Tumor Biology, Somatic Variant, Mendelian Disorder +10

Homozygous and Compound Heterozygous Mutations in ZMPSTE24 Cause the Laminopathy Restrictive Dermopathy

Casey L. Moulson, Gloriosa Go, Jennifer M. Gardner et al. · Journal of Investigative Dermatology · 2005 · 149 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +10

Diagnostic exome sequencing in 266 Dutch patients with visual impairment

Lonneke Haer‐Wigman, Wendy AG van Zelst-Stams, Rolph Pfundt et al. · European Journal of Human Genetics · 2017 · 149 citations · Full text

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter et al. · European Journal of Human Genetics · 2010 · 147 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +11