Rolph R Pfundt - Genetic Mutations

Author Information

Rolph R. Pfundt is affiliated with the Department of Human Genetics at Radboud University Medical Center in Nijmegen, The Netherlands. His research primarily focuses on genetic factors underlying neurodevelopmental disorders, intellectual disabilities, and congenital anomalies.

Research Contributions

Rolph R. Pfundt has made significant contributions to the field of genetics, particularly in understanding the genetic basis of neurodevelopmental syndromes and intellectual disabilities. His research has covered a broad spectrum, from identifying recurrent de novo variants in histone H4 genes to exploring the diagnostic yield of genetic testing methods like karyotype, microarray analysis, and whole exome sequencing. Notable studies include the association of TNPO2 variants with developmental delays and the identification of SPEN haploinsufficiency as a cause of neurodevelopmental disorders. His work has also delved into the caveats of clinical exome sequencing and the impact of specific gene variants on neurological and developmental outcomes.

Aliases

Rolph R. Pfundt is also known by several aliases, including R Pfundt, R. Pfundt, and Rolph Pfundt.

Publication and Citation Metrics

Metric	Value
Total Citation Count	14,710
h-index	66
Total Number of Papers	327

Publications:

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

DOI: 10.1016/j.ajhg.2022.02.003

Year: 2022

Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole exome sequencing from Central Brazil

DOI: 10.1371/journal.pone.0266493

Year: 2022

Clinical exome sequencing - mistakes and caveats.

DOI: 10.1002/humu.24360

Year: 2022

A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype

DOI: 10.2147/IJGM.S348844

Year: 2022

TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.

DOI: 10.1016/j.ajhg.2021.06.019

Year: 2021

MED13L-related intellectual disability due to paternal germinal mosaicism

DOI: 10.1101/mcs.a006124

Year: 2021

NGS in diagnostics - where things can go wrong

DOI: 10.22541/au.162788790.01508133/v1

Year: 2021

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

DOI: 10.1016/j.ajhg.2021.01.015

Year: 2021

De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder

DOI: 10.1002/ajmg.a.62254

Year: 2021

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

DOI: 10.15252/emmm.202013258

Year: 2021

How Does UV Radiation Cause Genetic Mutations?

What is BLAST?

What are the Symptoms of Sickle Cell Anemia?

Is Hydroxyurea Mutagenic?

Should Genetic Mutations Be Patented?

What is the Future of Hemophilia Research?

How do PAHs cause genetic mutations?

What Tools Are Used in Phylogenetic Analysis?

How do Environmental Factors Influence Genetic Mutations?

Are There Any FDA-Approved Medications Specifically Designed for Genetic Mutations?

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