Human Genetics

ISSN: 0340-6717

Journal Home

Journal Guideline

Human Genetics Q1 Unclaimed

Springer Verlag Germany
Unfortunately this journal has not been claimed yet. For this reason, some information may be unavailable.

Human Genetics presents original and timely articles on all aspects of human genetics. Coverage includes gene structure and organization; gene expression; mutation detection and analysis; linkage analysis and genetic mapping; physical mapping; cytogenetics and cytogenomics; genome structure and organization; bioinformatics; gene therapy and gene editing; disease association studies; molecular diagnostics; genetic epidemiology; evolutionary genetics; developmental genetics; genotype-phenotype relationships; pharmacogenetics and -genomics; molecular genetics of tumorigenesis; genetics of complex diseases and epistatic interactions; ethical, legal and social issues. Human Genetics is a Transformative Journal (TJ). When a paper is accepted for publication, authors can choose to publish using either the traditional publishing route or  immediate gold Open Access (Funding available! Please see: https://www.springer.com/journal/439/open-access-publishing) No publication charges except for special services (open access, paper offprints, e-offprints, posters etc.) Color art is free of charge for print and online publication 95% of authors who answered a survey reported that they would definitely publish or probably publish in the journal again It has an SJR impact factor of 2,049.

Human Genetics focuses its scope in these topics and keywords: genetic, human, type, genes, gene, mutation, mapping, risk, mutations, receptor, ...

Type: Journal

Type of Copyright:

Languages: English

Open Access Policy: Open Choice

Type of publications:

Publication frecuency: -

Price

3580 €

Inmediate OA

NPD

Embargoed OA

0 €

Non OA

Metrics

Human Genetics

2,049

SJR Impact factor

152

H Index

142

Total Docs (Last Year)

390

Total Docs (3 years)

9190

Total Refs

1963

Total Cites (3 years)

371

Citable Docs (3 years)

4.35

Cites/Doc (2 years)

64.72

Ref/Doc

Comments

No comments ... Be the first to comment!

Aims and Scope


genetic, human, type, genes, gene, mutation, mapping, risk, mutations, receptor, population, diabetes, characterization, caused, disease, pattern, v, variant, variants, expression, aminoacid,



Best articles by citations

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Peter D. Stenson Matthew Mort Edward V. Ball
1000 Citations View more

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Peter D. Stenson Matthew Mort Edward V. Ball
974 Citations View more

A functional polymorphism in the monoamine oxidase A gene promoter

S. Z. Sabol Stella Hu D. Hamer
802 Citations View more

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak Jochen Reiss DavidN. Cooper
799 Citations View more

Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries

P. Lichter T. Cremer J. Borden
790 Citations View more

Candidate gene studies of ADHD: a meta-analytic review

Ian R. Gizer Courtney Ficks Irwin D. Waldman
752 Citations View more

Nomenclature for the description of human sequence variations

J. den Dunnen S. Antonarakis
641 Citations View more

The CpG dinucleotide and human genetic disease

David N. Cooper Hagop Youssoufian
640 Citations View more

Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human y chromosome long arm

L. Tiepolo Orsetta Zuffardi
637 Citations View more

The hnRNP family: insights into their role in health and disease

Thomas Geuens Delphine Bouhy Vincent Timmerman
629 Citations View more

Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets

Miao-Xin Li Juilian M. Y. Yeung Stacey S. Cherny
564 Citations View more

The heritability of human longevity: A population-based study of 2872 Danish twin pairs born 1870–1900

Anne Maria Herskind Matthew McGue Niels V. Holm
557 Citations View more
SHOW MORE ARTICLES

The frequency of lysosomal storage diseases in The Netherlands

B.J.H.M. Poorthuis R.A. Wevers W.J. Kleijer
497 Citations View more

Missense mutations in the APOL1 gene are highly associated with end stage kidney disease risk previously attributed to the MYH9 gene

Shay Tzur Saharon Rosset Revital Shemer
481 Citations View more

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

David N. Cooper Michael Krawczak Constantin Polychronakos
458 Citations View more

A routine method for the establishment of permanent growing lymphoblastoid cell lines

Heidemarie Neitzel
457 Citations View more

DNA polymerase ? inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes

Thomas W. Glover Carol Berger Jane Coyle
454 Citations View more

Polymorphism in human IL-1 receptor antagonist gene intron 2 is caused by variable numbers of an 86-bp tandem repeat

JoannaK. Tarlow AlexandraI.F. Blakemore Andrew Lennard
454 Citations View more

An improved technique for selective silver staining of nucleolar organizer regions in human chromosomes

S. E. Bloom C. Goodpasture
437 Citations View more

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

AlanH. Beggs Michel Koenig FrederickM. Boyce
436 Citations View more

Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy

G. Simoni B. Brambati C. Danesino
430 Citations View more

Distribution of ADH2 and ALDH2 genotypes in different populations

H.W. Goedde D.P. Agarwal G. Fritze
389 Citations View more

Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization

Stanislas du Manoir Michael R. Speicher Stefan Joos
385 Citations View more

Detection of chromosome aberrations in metaphase and interphase tumor cells by in situ hybridization using chromosome-specific library probes

T. Cremer P. Lichter J. Borden
382 Citations View more

FAQS