Suzanne C.E.H. Sallevelt

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

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

Pleuntje J. van der Sluijs, Sandra Jansen, Samantha A. Schrier Vergano et al. · Genetics in Medicine · 2018 · 127 citations · Full text

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

Tom E. J. Theunissen, Minh Nguyen, Rick Kamps et al. · Frontiers in Genetics · 2018 · 94 citations · Full text

Clinical Symptoms, Genetics, Genetic Epidemiology +20

Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success

Suzanne C.E.H. Sallevelt, J. Dreesen, Marion Drüsedau et al. · Journal of Medical Genetics · 2013 · 91 citations · Full text

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Chantal Deden, Kornelia Neveling, Dimitra Zafeiropopoulou et al. · Prenatal Diagnosis · 2020 · 86 citations · Full text