Rolph Pfundt - Concepedia

Concepedia

Author

Rolph Pfundt

Radboud University Medical Center

Also Known As

R Pfundt, R. Pfundt, Rolph Pfundt

22

Publications

1.2K

Citations

14

H-Index

27

Concepts

All Affiliations

Radboud University Medical Center Radboud University Nijmegen University Medical Center Groningen University of Groningen University of Antwerp

RP

About

Rolph Pfundt is an author at Radboud University Medical Center specializing in genetics, medicine, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	484
2	Molecular Genetics	4	4	113
3	Biology	1	1	19
4	Cell Biology	1	1	17
5	Hepatology	1	1	18

Rolph Pfundt

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13

Publications

1.2K

Citations

13

H-Index

	Year	Citations
Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders Ian M. Campbell, Bo Yuan, Caroline Robberecht, The American Journal of Human Genetics Down SyndromeInfluences Recurrence RiskDevelopmental BiologyGenetic DisorderGenomic Disorders	2014	278
Genomic and Expression Profiling of Human Spermatocytic Seminomas: Primary Spermatocyte as Tumorigenic Precursor and <i>DMRT1</i> as Candidate Chromosome 9 Gene Leendert H. J. Looijenga, Remko Hersmus, Ad Gillis, Cancer Research	2006	226
Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes Damien L. Bruno, Britt‐Marie Anderlid, Anna Lindstrand, Journal of Medical Genetics	2010	164
Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis Brigitte H. W. Faas, I. van der Bürgt, Angelique J. A. Kooper, Journal of Medical Genetics	2010	144
De novo copy number variants associated with intellectual disability have a paternal origin and age bias Jayne Y. Hehir‐Kwa, Benjamín Rodríguez‐Santiago, Lisenka E.L.M. Vissers, Journal of Medical Genetics	2011	104
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype Bregje W.M. van Bon, David A. Koolen, Louise Brueton, European Journal of Human Genetics Down SyndromeGenetic DisorderGeneticsPathologyMedicine	2009	77
Congenital myopathy caused by a novel missense mutation in the CFL2 gene Charlotte W. Ockeloen, H. Jacobus Gilhuis, Rolph Pfundt, Neuromuscular Disorders Congenital MyopathyMendelian DisorderGenetic DisorderMedicineGenetics	2012	59
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses Steven Laurie, Kiran Polavarapu, Nika Schuermans, Nature Medicine	2025	29
Xq13.2q21.1 duplication encompassing the <i>ATRX</i> gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax Dorien Lugtenberg, Arjan P.M. de Brouwer, Astrid Oudakker, American Journal of Medical Genetics Part A	2009	20
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1 David A. Koolen, J. Herbergs, Joris A. Veltman, Journal of Human Genetics BiologyMedicineGeneticsMolecular GeneticsMb Duplication	2006	19

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