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Stephanie Spranger | Researchclopedia

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Stephanie Spranger

Hochschule Bremen

87

Works

3,122

Citations

27

h-index

45

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Affiliations

University Medical Center Groningen2008–2008

Hochschule Bremen2025–2026

University of Groningen2008–2008

University of Bremen1999–2003

Friedrich-Alexander-Universität Erlangen-Nürnberg2008–2008

Top Works

Mutations in the Pericentrin ( <i>PCNT</i> ) Gene Cause Primordial Dwarfism

Anita Rauch,Christian T. Thiel,et al.

2008393 citations

Genetic Syndromes and Imprinting

Pluripotent Stem Cells Research

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

Víctor L. Ruiz‐Pérez,Susan Ide,et al.

2000353 citations

RAD21 Mutations Cause a Human Cohesinopathy

Matthew A. Deardorff,Jonathan J. Wilde,et al.

2012267 citations

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation

Özge Altug Teber,Gabriele Gillessen‐Kaesbach,et al.

2004180 citations

Next-generation sequencing in X-linked intellectual disability

Andreas Tzschach,Ute Grasshoff,et al.

2015149 citations

Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits

Denise Horn,Johannes Kapeller,et al.

2010144 citations

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome

Simone Schiller,Stephanie Spranger,et al.

2000138 citations

Copy-Number Variations Measured by Single-Nucleotide–Polymorphism Oligonucleotide Arrays in Patients with Mental Retardation

Janine Wagenstaller,Stephanie Spranger,et al.

2007131 citations

47 patients with FLNA associated periventricular nodular heterotopia

Max Lange,Burkhard S. Kasper,et al.

2015105 citations