Concepedia

Deborah Bartholdi

DB

Statistics

Publications

42

Citations

4.9K

H-Index

30

Active since

1995

Affiliations

University of Zurich(Current)

University Hospital of Bern

Inserm

University Children's Hospital Zurich

University Hospital of Lausanne

Deborah Bartholdi is an author at University of Zurich specializing in life sciences, genetics, and genetic disorders.

Publications per year

1995–2023

42

Publications

42

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

, , +16

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

Jeroen Roelfsema, Stefan J. White, Yavuz Ariyürek et al. · The American Journal of Human Genetics · 2005 · 478 citations · Full text

, , +6

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Viviana Cordeddu, Elia Di Schiavi, L Pennacchio et al. · Nature Genetics · 2009 · 417 citations · Full text

, , +9

Expression of Pro‐Inflammatory Cytokine and Chemokine mRNA Upon Experimental Spinal Cord Injury in Mouse: an <i>In Situ</i> Hybridization Study

Deborah Bartholdi, Martin E. Schwab · European Journal of Neuroscience · 1997 · 355 citations

, , +17

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

Alexander Hoischen, Bregje W.M. van Bon, Benjamín Rodríguez‐Santiago et al. · Nature Genetics · 2011 · 277 citations

, , +3

1–5 of 42