Nicole Corsten‐Janssen

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

The Cardiac Phenotype in Patients With a <i>CHD7</i> Mutation

Nicole Corsten‐Janssen, Wilhelmina S. Kerstjens‐Frederikse, Gideon J. du Marchie Sarvaas et al. · Circulation Cardiovascular Genetics · 2013 · 72 citations · Full text

Cohesin complex-associated holoprosencephaly

Paul Kruszka, Seth Berger, Valentina Casà et al. · Brain · 2019 · 61 citations · Full text

Corticobasal Degeneration, Genetics, Disease Gene Identification +18

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated

Nicole Corsten‐Janssen, Sulagna C. Saitta, Lies H. Hoefsloot et al. · Molecular Syndromology · 2013 · 53 citations · Full text

Genetics, Pathology, Typical 22Q11.2 +17

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

Nicole Corsten‐Janssen, Katelijne Bouman, Janouk C. D. Diphoorn et al. · Prenatal Diagnosis · 2020 · 47 citations · Full text