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Peter Nürnberg | Researchclopedia

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Peter Nürnberg

University of Cologne ORCID

7

Works

942

Citations

6

h-index

6

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Hippo pathway signaling and YAP/TAZ Protein Kinase Regulation and GTPase Signaling

Affiliations

University of Bonn2008–2008

University of Cologne2007–2025

Humboldt-Universität zu Berlin2001–2001

University Hospital Cologne2022–2025

Charité - Universitätsmedizin Berlin1996–2001

Top Works

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Christiane Zweier,Maarit Peippo,et al.

2007315 citations

Epigenetics and DNA Methylation

Muscle Physiology and Disorders

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

Peter Nürnberg,Hölger Thiele,et al.

2001241 citations

Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

Nina Bögershausen,Vincent Gâtinois,et al.

2016188 citations

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy

Christian Geier,Katja Gehmlich,et al.

2008172 citations

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling

William Dufour,Salem Alawbathani,et al.

202214 citations

Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8

Denise Horn,Peter N. Robinson,et al.

199612 citations

CCB79 is a primate-specific cilium initiation factor essential to maintain neural progenitor diversity in developing brain tissue

Dhanasekaran Rathinam,Vaibhav Jadhav,et al.

20250 citations