Hermine E. Veenstra‐Knol

Author

University Medical Center Groningen ORCID

Also Known As

Aleksandra Jezela-Stanek, E. Martina Bebin, Gea Beunders, H E Veenstra-Knol, H. E. Veenstra-Knol, H. Holzer, Hermine E Veenstra-Knol, Hermine E. Veenstra-Knol, Hermine E. Veenstra‐Knol, Hermine Elisabeth Veenstra - Knol

Publications

2.6K

Citations

H-Index

Concepts

All Affiliations

University Medical Center Groningen University of Groningen Radboud University Medical Center Radboud University Nijmegen Leiden University Medical Center

About

Hermine E. Veenstra‐Knol is an author at University Medical Center Groningen specializing in medicine, genetics, and developmental biology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	14	16	1K
2	Engineering	2	2	170
3	Social Sciences	2	2	172
4	Education	1	1	70
5	Public Health	1	1	164

Hermine E. Veenstra‐Knol

Publications

1.8K

Citations

H-Index

Page 1

	Year	Citations
Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene J. Peter van Tintelen, Isabelle C Van Gelder, Angeliki Asimaki, Heart Rhythm CardiomyopathyHeart FailureCardiovascular DiseaseGeneticsGenetic Epidemiology	2009	164
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, Genetics in Medicine	2018	127
Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity J.S. Witteveen, Marjolein H. Willemsen, Thaís Caroline Dallabona Dombroski, Nature Genetics Intellectual ImpairmentChromatinTranscriptional RegulationDevelopmental BiologyMolecular Neuroscience	2016	126
De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations Margot R.F. Reijnders, Vasilios Zachariadis, Brooke Latour, The American Journal of Human Genetics Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderGenetics	2016	106
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants Katrina Tatton‐Brown, Anna Zachariou, Chey Loveday, Wellcome Open Research	2018	106
Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression Valeska Frank, Sandra Habbig, Malte P. Bartram, Human Molecular Genetics Enlarged Cystic KidneysEngineeringC-myc ExpressionGeneticsMolecular Genetics	2013	100
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly Patrick Rump, Omid Jazayeri, Krista K. van Dijk-Bos, BMC Medical Genomics	2015	99
A study of the clinical and radiological features in a cohort of 93 patients with a <i>COL2A1</i> mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype Rutger Jan Nievelstein, Eva J. J. Verver, Vedat Topsakal, American Journal of Medical Genetics Part A Short StatureGeneticsRelated PhenotypeGenetic EpidemiologyPathology	2015	94
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability Nuria C. Bramswig, Hermann‐Josef Lüdecke, Fadi F. Hamdan, Human Genetics Mendelian DisorderNeurological DisorderEarly Onset EpilepsyGeneticsSevere Intellectual Disability	2017	92
Expanding the Spectrum of<i>FOXC1</i>and<i>PITX2</i>Mutations and Copy Number Changes in Patients with Anterior Segment Malformations Barbara D′haene, Françoise Meire, Ilse Claerhout, Investigative Ophthalmology & Visual Science	2010	87

Page 1