Rolph Pfundt

1.2k citations

10 papers · 455 indexed · h-index 10

Genetics top 10%
Molecular Biology
Surgery
Pediatrics, Perinatology and Child Health top 10%
Reproductive Medicine top 10%

Co-authors: Jayne Y. Hehir‐Kwa Nicole de Leeuw Joris A. Veltman Brigitte H. W. Faas Ad Geurts van Kessel I. van der Bürgt Angelique J. A. Kooper Arie P.T. Smits
Topics: Genomic variations and chromosomal abnormalities (5 papers)Prenatal Screening and Diagnostics (3 papers)Genomics and Rare Diseases (2 papers)
Cited by: Genetics Reproductive Medicine Pediatrics, Perinatology and Child Health
Journals: Cancer Research Journal of Medical Genetics European Journal of Human Genetics
Partner nations: Netherlands United States United Kingdom

In The Last Decade

Rolph Pfundt

10 papers receiving 447 citations

Peers

Countries citing papers authored by Rolph Pfundt

Since Specialization

Citations

This map shows the geographic impact of Rolph Pfundt's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Rolph Pfundt with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Rolph Pfundt more than expected).

Fields of papers citing papers by Rolph Pfundt

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Rolph Pfundt. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Rolph Pfundt. The network helps show where Rolph Pfundt may publish in the future.

Co-authorship network of co-authors of Rolph Pfundt

This figure shows the co-authorship network connecting the top 25 collaborators of Rolph Pfundt. A scholar is included among the top collaborators of Rolph Pfundt based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Rolph Pfundt. Rolph Pfundt is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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10 of 10 papers shown

#	Work	Indexed citations
1	Chromosomal abnormalities in hepatic cysts point to novel polycystic liver disease genes 2016 ·European Journal of Human Genetics ·(unknown),Wybrich R Cnossen,Joris A. Veltman,Rob Woestenenk,Marloes Steehouwer,(unknown),René H. M. te Morsche,Meritxell Huch,Jayne Y. Hehir‐Kwa,(unknown),Rolph Pfundt,Ronald Roepman,Alexander Hoischen,Joost P.H. Drenth	14
2	Whole-genome copy-number analysis identifies new leads for chromosomal aberrations involved in the oncogenesis and metastastic behavior of uveal melanomas 2015 ·Melanoma Research ·Adriana C. H. van Engen–van Grunsven,Marjolein P. Baar,Rolph Pfundt,Jos Rijntjes,Heidi V.N. Küsters‐Vandevelde,(unknown),J. E. E. Keunen,(unknown),Pieter Wesseling,Willeke A.M. Blokx,Patricia J.T.A. Groenen	13
3	Congenital myopathy caused by a novel missense mutation in the CFL2 gene 2012 ·Neuromuscular Disorders ·Charlotte W. Ockeloen,H. Jacobus Gilhuis,Rolph Pfundt,Erik‐Jan Kamsteeg,Pankaj B. Agrawal,Alan H. Beggs,(unknown),(unknown),Nine V.A.M. Knoers,Martin Lammens,Nens van Alfen	42
4	Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies 2012 ·European Journal of Medical Genetics ·Marjolein H. Willemsen,Nicole de Leeuw,Arjan P.M. de Brouwer,Rolph Pfundt,Jayne Y. Hehir‐Kwa,Helger G. Yntema,Willy M. Nillesen,Bert B.A. de Vries,Hans van Bokhoven,Tjitske Kleefstra	13
5	De novo copy number variants associated with intellectual disability have a paternal origin and age bias 2011 ·Journal of Medical Genetics ·Jayne Y. Hehir‐Kwa,Benjamín Rodríguez‐Santiago,Lisenka E.L.M. Vissers,Nicole de Leeuw,Rolph Pfundt,Jan K. Buitelaar,Luis A. Pérez‐Jurado,Joris A. Veltman	67
6	SNP Array Analysis in Constitutional and Cancer Genome Diagnostics – Copy Number Variants, Genotyping and Quality Control 2011 ·Cytogenetic and Genome Research ·Nicole de Leeuw,Jayne Y. Hehir‐Kwa,A. Simons,Ad Geurts van Kessel,Dominique Smeets,Brigitte H. W. Faas,Rolph Pfundt	31
7	Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis 2010 ·Journal of Medical Genetics ·Brigitte H. W. Faas,I. van der Bürgt,Angelique J. A. Kooper,Rolph Pfundt,Jayne Y. Hehir‐Kwa,Arie P.T. Smits,Nicole de Leeuw	79
8	Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax 2009 ·American Journal of Medical Genetics Part A ·Dorien Lugtenberg,Arjan P.M. de Brouwer,Astrid Oudakker,Rolph Pfundt,Ben C.J. Hamel,Hans van Bokhoven,Ernie M.H.F. Bongers	17
9	Genomic and Expression Profiling of Human Spermatocytic Seminomas: Primary Spermatocyte as Tumorigenic Precursor and DMRT1 as Candidate Chromosome 9 Gene 2006 ·Cancer Research ·Leendert H. J. Looijenga,Remko Hersmus,Ad Gillis,Rolph Pfundt,Hans Stoop,Ruud J. H. L. M. van Gurp,Joris A. Veltman,H. Berna Beverloo,Ellen van Drunen,Ad Geurts van Kessel,Renee A. Reijo Pera,Dominik T. Schneider,Brenda Summersgill,Janet Shipley,Alan McIntyre,Peter J. van der Spek,Eric Schoenmakers,J. Wolter Oosterhuis	170
10	Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1 2006 ·Journal of Human Genetics ·David A. Koolen,J. Herbergs,Joris A. Veltman,Rolph Pfundt,Hans van Bokhoven,Hans Stroink,Erik A. Sistermans,Han G. Brunner,Ad Geurts van Kessel,Bert B.A. de Vries	9

About Rolph Pfundt

Rolph Pfundt is a scholar working on Developmental Biology, Genetics and Pediatrics, Perinatology and Child Health, having authored 10 papers that have together received 455 indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (5 papers), Prenatal Screening and Diagnostics (3 papers) and Genomics and Rare Diseases (2 papers). The work is most often cited by research in Genetics (262 citations), Reproductive Medicine (72 citations) and Pediatrics, Perinatology and Child Health (116 citations). Rolph Pfundt has collaborated with scholars based in Netherlands, United States and United Kingdom. Frequent co-authors include Jayne Y. Hehir‐Kwa, Nicole de Leeuw, Joris A. Veltman, Brigitte H. W. Faas, Ad Geurts van Kessel, I. van der Bürgt, Angelique J. A. Kooper, Arie P.T. Smits, Eric Schoenmakers and Ellen van Drunen. Their work appears in journals such as Cancer Research, Journal of Medical Genetics and European Journal of Human Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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