Nicole Corsten‐Janssen

Author

University Medical Center Groningen ORCID

Also Known As

Corsten-Janssen, N., D.-Z Li, N Corsten-Janssen, N. Corsten-Janssen, Nicole Corsten-Janssen, Nicole Corsten‐Janssen

Publications

Citations

H-Index

Concepts

All Affiliations

University Medical Center Groningen University of Groningen Radboud University Nijmegen Radboud University Medical Center Erasmus MC

About

Nicole Corsten‐Janssen is an author at University Medical Center Groningen specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	205
2	Language Studies	1	1	35
3	Natural Sciences	1	1	21
4	Public Health	1	1	35
5	Biochemistry	1	1	21

Nicole Corsten‐Janssen

Publications

525

Citations

H-Index

Page 1

	Year	Citations
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, Prenatal Diagnosis	2020	86
The Cardiac Phenotype in Patients With a <i>CHD7</i> Mutation Nicole Corsten‐Janssen, Wilhelmina S. Kerstjens‐Frederikse, Gideon J. du Marchie Sarvaas, Circulation Cardiovascular Genetics	2013	72
Cohesin complex-associated holoprosencephaly Paul Kruszka, Seth Berger, Valentina Casà, Brain Corticobasal DegenerationGeneticsDisease Gene IdentificationEpigeneticsBrain Pathology	2019	61
More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated Nicole Corsten‐Janssen, Sulagna C. Saitta, Lies H. Hoefsloot, Molecular Syndromology GeneticsPathologyTypical 22Q11.2Congenital Heart AnomalyDeletion Syndrome	2013	53
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, Prenatal Diagnosis	2020	47
<i>De novo DHDDS</i> variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus Serena Galosi, Ban H. Edani, Simone Martinelli, Brain	2021	39
Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of <b><i>OTX2</i></b> O. Patat, Conny M.A. van Ravenswaaij‐Arts, Julia Tantau, Molecular Syndromology Ocular DiseaseGeneticsPrrx1 MutationComparative LiteratureLanguage Studies	2013	35
Variable cardiovascular phenotypes associated with <i>SMAD2</i> pathogenic variants Jorge L. Granadillo, Wendy K. Chung, Leah Hecht, Human Mutation Vascular DiseaseShort StatureGeneticsGenetic EpidemiologyPathology	2018	35
Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy Mirjam Plantinga, L. Zwienenberg, Eva van Dijk, Prenatal Diagnosis	2021	26
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder Justin O. Szot, Hartmut Cuny, Ella MMA Martin, Journal of Clinical Investigation Metabolic DisorderGeneticsNicotinamide Adenine DinucleotideMetabolic SignatureDisease Gene Identification	2024	21

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