Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Andreas Zimmer

12PUBLICATIONS
25CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Genetic immunologyNeurogeneticsHaematological tumoursEpigenetics (incl. genome methylation and epigenomics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (12)

Sort by Publication Date:
|Jun 21, 2024
Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci.

Alexandra Baumann, Christian Ruckert, Christoph Meier

|Mar 29, 2023
Mutational Spectrum of the <i>ABCA12</i> Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis.

Alrun Hotz, Julia Kopp, Emmanuelle Bourrat

|Feb 10, 2023
A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings.

Mingfeng Li, Kenneth Lay, Andreas Zimmer

|Jan 23, 2023
Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans.

Sabine Jägle, Hao-Hsiang Hsu, Hazem A Juratli

|Nov 04, 2022
Acral lamellar ichthyosis with amino acid substitution in the C-terminus of keratin 2.

Leonie Frommherz, Katalin Komlosi, Charlotte Hewel

|Oct 23, 2021
The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome.

Luise D Resch, Alrun Hotz, Andreas D Zimmer

Pageof 2

Frequent Collaborators

8 joint publications

Judith Fischer

5 joint publications

Alrun Hotz

4 joint publications

Cristina Has

3 joint publications

Katalin Komlosi

2 joint publications

Lisa Heinz

2 joint publications

Regina C Betz

2 joint publications

Svenja Alter

1 joint publications

J Vornweg

1 joint publications

Nadja Ballin

1 joint publications

Matthias Schmuth

Frequent Collaborators

8 joint publications

Judith Fischer

5 joint publications

Alrun Hotz

4 joint publications

Cristina Has

3 joint publications

Katalin Komlosi

Top Related Videos

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of <em>BRCA1</em>, <em>BRCA2</em>, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of <em>BRCA1</em>, <em>BRCA2</em>, and 9 Genes Involved in DNA Damage Repair

Published on : Oct 06, 2014

12.3K
Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing
08:39

Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing

Published on : Sep 01, 2017

7.7K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on : Apr 04, 2018

33.9K
See more related videos

Top Related Videos

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of <em>BRCA1</em>, <em>BRCA2</em>, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of <em>BRCA1</em>, <em>BRCA2</em>, and 9 Genes Involved in DNA Damage Repair

Published on : Oct 06, 2014

12.3K
Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing
08:39

Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing

Published on : Sep 01, 2017

7.7K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on : Apr 04, 2018

33.9K
See more related videos