Katrin Hoffmann

Katrin Hoffmann


Research Focus & Metrics

Academic Career Length

16Years (2011-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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1 July 2011 in The American Journal of Human Genetics
Verified
Journal Article
Closed access
SBSevjidmaa Baasanjav
Sevjidmaa Baasanjav
LALihadh Al-Gazali
Lihadh Al-Gazali
THTaishi Hashiguchi
Taishi Hashiguchi
Shuji MizumotoShuji Mizumoto
Shuji Mizumoto
BFBjörn Fischer
Björn Fischer
KHKatrin Hoffmann
Katrin Hoffmann

28 June 2015 in Clinical Endocrinology
Verified
Journal Article
Closed access
PDF file
KMKonstanze Miehle
Konstanze Miehle
JPJoseph Porrmann
Joseph Porrmann
DMDiana Mitter
Diana Mitter
MSMichael Stumvoll
Michael Stumvoll
CGChristiane Glaser
Christiane Glaser
KHKatrin Hoffmann
Katrin Hoffmann

3 October 2012 in European Journal of Human Genetics
Verified
Journal Article
Open access
PDF file
MAMaria Arélin
Maria Arélin
BSBernt Schulze
Bernt Schulze
BMBertram Müller-Myhsok
Bertram Müller-Myhsok
DHDenise Horn
Denise Horn
ADAlexander Diers
Alexander Diers
KHKatrin Hoffmann
Katrin Hoffmann
Genome-wide linkage analysis is an established tool to map inherited diseases. To our knowledge it has not been used in prenatal diagnostics of any genetic disorder. We present a family with a severe recessive mental retardation syndrome, where the mother wished pregnancy termination to avoid delivering another affected child. By genome-wide scanning using the Affymetrix (Santa Clara, CA, USA) 10k chip we were able to establish the disease haplotype. Without knowing the exact genetic defect, we excluded the condition in the fetus. The woman finally gave birth to a healthy baby. We suggest that genome-wide linkage analysis – based on either SNP mapping or full-genome sequencing – is a very useful tool in prenatal diagnostics of diseases.