Concepedia

Author

Erik-Jan Kamsteeg

Radboud University Nijmegen

Also Known As

E J Kamsteeg, E.J. Kamsteeg, Erik-Jan Kamsteeg, Hans Scheffer, Henry Houlden, Oegema, Renske, Patrick Chinnery

25

Publications

736

Citations

12

H-Index

18

Concepts

All Affiliations

Radboud University NijmegenRadboud University Medical CenterInsermUniversity College LondonRadboud Institute for Molecular Life Sciences
EK

About

Erik-Jan Kamsteeg is an author at Radboud University Nijmegen specializing in natural sciences, oxidative stress, and molecular biology.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Natural Sciences

2

2

254

2

Medicine

1

1

46

3

Biochemistry

1

1

46

4

Biology

1

1

208

5

Molecular Biology

1

1

46

Erik-Jan Kamsteeg

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9

Publications

641

Citations

9

H-Index

YearCitations

An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus

Erik-Jan Kamsteeg, Thera A.M. Wormhoudt, J.P.L. Rijss,

The EMBO Journal

1999

208

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers,

European Journal of Human Genetics

2021

100

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights

Devon L. Johnstone, Hilal H. Al-Shekaili, Maja Tarailo‐Graovac,

Brain

2018

85

At Physiological Expression Levels the Kidd Blood Group/Urea Transporter Protein Is Not a Water Channel

Frédéric Sidoux-Walter, Nicole Lucien, Bernadette Olivès,

Journal of Biological Chemistry

1999

77

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi,

Acta Neuropathologica

2019

68

Biallelic variants in <i>HPDL</i> cause pure and complicated hereditary spastic paraplegia

Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni,

Brain

2021

46

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldız, Erdi Küçük, Juliet E. Hampstead,

Human Genomics

2023

26

Familial neurohypophyseal diabetes insipidus due to a novel mutation in the arginine vasopressin–neurophysin II gene

Maaike de Fost, A S Paul van Trotsenburg, Hanneke M. van Santen,

European Journal of Endocrinology

2011

19

Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Adam Jackson, Sheng‐Jia Lin, Elizabeth A. Jones,

Human Genetics and Genomics Advances

2023

12

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