Published since March 20, 2007

Medizinische Genetik

ISSN: 1863-5490

Impact Factor: 0.836

About this journal

Objectives

medizinischegenetik serves education and training among colleagues, the interdisciplinary exchange of knowledge in all areas of human genetics in clinics, practice, research and teaching. Each issue of the quarterly journal deals with a focus that provides a comprehensive overview of current developments in specific clinical pictures, technical developments and therapeutic approaches. All reviews are written in English language. The journal thus creates a platform for the international exchange of knowledge and increased awareness of German research activities in the scientific community.

In addition, medizinischegenetik contains information on activities in its own subject in the German-language section. This includes conference reports, association announcements, personnel matters, statements and guidelines. With health policy questions, historical retrospectives and comments on current developments, the profession takes a stand on human genetic issues in Germany, Austria and Switzerland.

Main Topics for the coming issues are:

Genomics and Epigenomics of Psychiatric Disorders

Hereditary Hearing Loss and Deafness Overview

Periphere Neurogenetic Disorders

Genomic Imprinting

Your Benefits

medizinischegenetik is owned and published by the German Society of Human Genetics (GfH).

Co publishers
Austrian Society of Human Genetics (ÖGH)
Swiss Society of Medical Genetics (SGMG)
Professional Association of German Human Geneticists (BVDH)

Your benefits:

Information on new interdisciplinary research approaches and the international dialogue in the fields of human genetics
Renowned editors and authors
Issues with main focus on special aspects in clinical genetics, syndromal disorders, new technical aspects of genetic diagnostics
Information on events concerning clinical genetics
Print- and online publication

History

medizinischegenetik is a scientific journal that is owned and published by the German Society of Human Genetics e.V. since 1989. The journal was founded by Prof. Jan Murken, München. Self-published until 2006, from 2007-2019 published at Springer Verlag and since 2020 at De Gruyter.

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Supplementary Materials

Topics

Volume 34 Issue 4

December 2022

Publicly Available November 29, 2022

Frontmatter

Page range: I-IV

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MAIN TOPIC: Functional genomics meets human genetics

Open Access November 29, 2022

Functional genomics meets human genetics

Kerstin U. Ludwig, Malte Spielmann

Page range: 259-260

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Open Access November 29, 2022

Single-cell sequencing: promises and challenges for human genetics

Varun K. A. Sreenivasan, Jana Henck, Malte Spielmann

Page range: 261-273

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Abstract

Over the last decade, single-cell sequencing has transformed many fields. It has enabled the unbiased molecular phenotyping of even whole organisms with unprecedented cellular resolution. In the field of human genetics, where the phenotypic consequences of genetic and epigenetic alterations are of central concern, this transformative technology promises to functionally annotate every region in the human genome and all possible variants within them at a massive scale. In this review aimed at the clinicians in human genetics, we describe the current status of the field of single-cell sequencing and its role for human genetics, including how the technology works as well as how it is being applied to characterize and monitor diseases, to develop human cell atlases, and to annotate the genome.

Open Access November 29, 2022

Systematic assays and resources for the functional annotation of non-coding variants

Martin Kircher, Kerstin U. Ludwig

Page range: 275-286

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Abstract

Identification of genetic variation in individual genomes is now a routine procedure in human genetic research and diagnostics. For many variants, however, insufficient evidence is available to establish a pathogenic effect, particularly for variants in non-coding regions. Furthermore, the sheer number of candidate variants renders testing in individual assays virtually impossible. While scalable approaches are being developed, the selection of methods and resources and the application of a given framework to a particular disease or trait remain major challenges. This limits the translation of results from both genome-wide association studies and genome sequencing. Here, we discuss computational and experimental approaches available for functional annotation of non-coding variation.

Open Access November 29, 2022

Model organisms for functional validation in genetic renal disease

Susanne Boettcher, Matias Simons

Page range: 287-296

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Abstract

Functional validation is key for establishing new disease genes in human genetics. Over the years, model organisms have been utilized in a very effective manner to prove causality of genes or genetic variants for a wide variety of diseases. Also in hereditary renal disease, model organisms are very helpful for functional validation of candidate genes and variants identified by next-generation sequencing strategies and for obtaining insights into the pathophysiology. Due to high genetic conservation as well as high anatomical and physiological similarities with the human kidney, almost all genetic kidney diseases can be studied in the mouse. However, mouse work is time consuming and expensive, so there is a need for alternative models. In this review, we will provide an overview of model organisms used in renal research, focusing on mouse, zebrafish, frog, and fruit flies.

Open Access November 29, 2022

Reducing uncertainty in genetic testing with Saturation Genome Editing

Phoebe Dace, Gregory M. Findlay

Page range: 297-304

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Abstract

Accurate interpretation of human genetic data is critical for optimizing outcomes in the era of genomic medicine. Powerful methods for testing genetic variants for functional effects are allowing researchers to characterize thousands of variants across disease genes. Here, we review experimental tools enabling highly scalable assays of variants, focusing specifically on Saturation Genome Editing (SGE). We discuss examples of how this technique is being implemented for variant testing at scale and describe how SGE data for BRCA1 have been clinically validated and used to aid variant interpretation. The initial success at predicting variant pathogenicity with SGE has spurred efforts to expand this and related techniques to many more genes.

BERICHTE AUS DER HUMANGENETIK

GfH-Verbandsmitteilungen

November 29, 2022

Tagungsbericht Syndromtag 30.09.–01.10.2022

Perspektivwechsel – Syndromologie und Onkogenetik

Page range: 305-306

November 29, 2022

Frank-Majewski-Preisträger 2022

Felix Marbach

Page range: 307-308

November 29, 2022

Die GfH-Juniorakademie 2022 – #GfHJAK22 @schlossbuchenau

Simone Ahting, Andreas Forstner, Maria Korte, Ilona Krey, Felicitas Maier, Robert Meyer, Linda Rey-Thol, Franziska Schnabel

Page range: 309-312

November 29, 2022

Grußwort 35. Tumorgenetische Arbeitstagung (TGA)

Page range: 313-313

ÖGH-Verbandsmitteilungen

November 29, 2022

Bericht von der 21. Jahrestagung der Österreichischen Gesellschaft für Humangenetik (ÖGH)

Page range: 315-317

BVDH-Verbandsmitteilungen

November 29, 2022

Fehlende Berücksichtigung von genetischen Risikoparametern in der Leistungsverpflichtung der gesetzlichen oder privaten Krankenversicherungen

Page range: 319-319

November 29, 2022

Ankündigung BVDH 2023 Herbsttagung

Page range: 321-321

Volume 34 (2022)

Volume 33 (2021)

Volume 32 (2020)

Volume 31 (2019)

Volume 30 (2018)

Volume 29 (2017)

Volume 28 (2016)

Volume 27 (2015)

Volume 26 (2014)

Volume 25 (2013)

Volume 24 (2012)

Volume 23 (2011)

Volume 22 (2010)

Volume 21 (2009)

Volume 20 (2008)

Volume 19 (2007)

5-year Impact Factor	1.200
Cite Score	2.6
Impact Factor	0.836
Journal Citation Indicator	0.31
SCImago Journal Rank	0.393
Source Normalized Impact per Paper	0.902

Submit

Submission guidelines

Manuscript types

Original Articles, Reviews, conference reports, association announcements, personnel matters, statements, guidelines, historical retrospectives and comments on current developments

Your benefits of publishing with us

Rapid publication times

Peer review of your article by two independent reviewers and near-term decision upon acceptance

Every article easily discoverable because of SEO and comprehensive Abstracting and Indexing Services

Secure archiving by De Gruyter and the independent archiving service Portico

Professional sales and marketing support (please contact: medgen.editorial@degruyter.com).

Submission process

Please send your manuscript via email to: organisation@gfhev.de.

Please note

Original articles and Reviews are to be submitted in clear and concise English, all other article formats in German language

Before submitting your article please have a look at the Instructions for Authors - Checklist, the Publication Ethics and Publication Malpractice Statement and our Copyright Transfer Agreement
Authors can download a PDF-version of their article. This copy will be explicitly labeled as a personal document of the author

Our Repository Policy allows you to distribute 30 PDF copies of your published article to colleagues (the PDF has to include the information that it is an author's copy). Please also feel free to distribute the link to the online abstract

If you have any general questions please visit our FAQ-page for authors

We look forward to receiving your manuscript!

Editorial

Editor In Chief
Markus Nöthen, Universitätsklinikum Bonn AöR, Germany

Co-Editors
Ute Felbor, Universitätsmedizin Greifswald, Germany
Christian Netzer, Universitätsklinikum zu Köln, Germany
Reiner Siebert, Universitätsklínikum Ulm, Germany
Dagmar Wieczorek, Heinrich-Heine-Universität Düsseldorf, Germany

Editorial Staff (GfH Managing director)
Anja Rössler, Berlin, Deutschland

Graphic Design
Brigitte Fiedler (GfH) Munich, Germany

Scientific Editorial Board
Nuria Brämswig, Uniklinik Essen, Germany
Frank Kaiser, Uniklinik Essen, Germany
Hildegard Kehrer-Sawatzki, Universitätsklinikum Ulm, Germany
Ingo Kurth, Universitätsklinikum der RWTH Aachen, Germany
Deborah Bartholdi, Bern (SGMG), Inselspital Bern, Switzerland
Michael Speicher, Graz (ÖGH), Medizinische Universität Graz, Austria

Owned and published by the German Society of Human Genetics (GfH)

Co-Publishers
Austrian Society of Human Genetics (ÖGH)
Swiss Society of Medical Genetics (SGMG)
Professional Association of German Human Geneticists (BVDH)

(Deutsch)

Online ISSN: 1863-5490
Print ISSN: 0936-5931
Type: Journal
Language: Multiple languages
Publisher: De Gruyter
First published: March 20, 2007
Publication Frequency: 4 Issues per Year