Genetics in Medicine Journal Impact Factor & Information

Publisher: American College of Medical Genetics, Nature Publishing Group

Journal description

As a respected part of the genetics community, Genetics in Medicine is a must read for all those applying new genetic findings to their practice. Genetics in Medicine is devoted to the broad clinical application of genetics, and outstanding editorial content and uniqueness make it a necessary acquisition for all clinicians and institutional libraries. Topics covered in the journal include clinical genetics, biochemical genetics, cytogenetics, molecular genetics, common disease genetics, genetic counseling and legal updates and genetics legacies.

Current impact factor: 6.44

Impact Factor Rankings

2015 Impact Factor Available summer 2015
2013 / 2014 Impact Factor 6.435
2012 Impact Factor 5.56
2011 Impact Factor 4.762
2010 Impact Factor 5.28
2009 Impact Factor 3.922
2008 Impact Factor 3.716
2007 Impact Factor 3.318
2006 Impact Factor 3.427
2005 Impact Factor 3.082
2004 Impact Factor 3.805
2003 Impact Factor 3.679
2002 Impact Factor 2.645
2001 Impact Factor 1.933
2000 Impact Factor 1.128
1999 Impact Factor 3.714

Impact factor over time

Impact factor

Additional details

5-year impact 5.04
Cited half-life 4.00
Immediacy index 1.55
Eigenfactor 0.02
Article influence 2.03
Website Genetics in Medicine website
Other titles Genetics in medicine, Genetics medicine
ISSN 1098-3600
OCLC 38569047
Material type Periodical, Internet resource
Document type Journal / Magazine / Newspaper, Internet Resource

Publisher details

Nature Publishing Group

  • Pre-print
    • Author can archive a pre-print version
  • Post-print
    • Author cannot archive a post-print version
  • Restrictions
    • 6 months embargo
  • Conditions
    • Authors retain copyright
    • Published source must be acknowledged and DOI cited
    • Must link to publisher version
    • Publisher's version/PDF cannot be used
    • On author's personal website and institutional repository
    • If funding agency rules apply, authors may post authors version to their relevant funding body's archive, 6 months after publication
    • This policy is an exception to the default policies of 'Nature Publishing Group'
  • Classification
    ​ yellow

Publications in this journal

  • Genetics in Medicine 05/2015; 17(5):424-425. DOI:10.1038/gim.2014.159
  • Genetics in Medicine 04/2015; 17(4):316-318. DOI:10.1038/gim.2014.155
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    ABSTRACT: Purpose: Experimental treatment with substrate replacement was successfully performed in single cases with molybdenum cofactor deficiency type A. The objective of this study was to quantitate the yet undefined natural history in untreated patients to ultimately benefit knowledge in experimental treatments in the future. Methods: Systematic analysis of published cases with molybdenum cofactor deficiency. The main outcome measures were survival, initial cardinal disease features at onset, and diagnostic delay. Results: The median survival for the overall population was 36 months. Initial cardinal disease features at onset were seizures (72%) as well as feeding difficulties (26%) and hypotonia (11%). In addition, developmental delay (9%), hemiplegia (2%), lens dislocation (2%), and hyperreflexia (1%) were reported. The median age at onset of the disease was the first day of life; the median age at diagnosis was 4.5 months. The median time to diagnosis (diagnostic delay) was 89 days. Conclusion: Molybdenum cofactor deficiency has its onset during the neonatal period and infancy. There is considerable diagnostic delay. Although seizures were the most frequent initial cardinal sign, molybdenum cofactor deficiency should be considered as a differential diagnosis in patients presenting with hypotonia, developmental delay, or feeding difficulties. The survival data will inform further natural-history and therapeutic studies.
    Genetics in Medicine 03/2015; advance online publication. DOI:10.1038/gim.2015.12
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    ABSTRACT: Purpose:Enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) prolongs survival in infantile Pompe disease (IPD). However, the majority of cross-reactive immunologic material (CRIM)-negative (CN) patients have immune responses with significant clinical decline despite continued ERT. We aimed to characterize immune responses in CN patients with IPD receiving ERT monotherapy.Methods:A chart review identified 20 CN patients with IPD treated with ERT monotherapy for ≥6 months. Patients were stratified by anti-rhGAA antibody titers: high sustained antibody titers (HSAT; ≥51,200) at least twice; low titers (LT; <6,400) throughout treatment; or sustained intermediate titers (SIT; 6,400-25,600).Results:Despite early initiation of treatment, the majority (85%) of CN patients developed significant antibody titers, most with HSAT associated with invasive ventilation and death. Nearly all patients with HSAT had at least one nonsense GAA mutation, whereas the LT group exclusively carried splice-site or frameshift mutations. Only one patient in the HSAT group is currently alive after successful immune modulation in the entrenched setting.Conclusion:Immunological responses are a significant risk in CN IPD; thus induction of immune tolerance in the naive setting should strongly be considered. Further exploration of factors influencing immune responses is required, particularly with the advent of newborn screening for Pompe disease.Genet Med advance online publication 05 March 2015Genetics in Medicine (2015); doi:10.1038/gim.2015.6.
    Genetics in Medicine 03/2015; DOI:10.1038/gim.2015.6
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    ABSTRACT: Purpose:Genetic etiology of congenital/infantile nystagmus remains largely unknown. This study aimed to identify genomic mutations in patients with infantile nystagmus and an associated disease network.Methods:Patients with inherited and sporadic infantile nystagmus were recruited for whole-exome and Sanger sequencing. β-Mannosidase activities were measured. Gene expression, protein-protein interaction, and nystagmus-associated lysosomal storage disease (LSD) genes were analyzed.Results:A novel heterozygous mutation (c.2013G>A; p.R638H) of MANBA, which encodes lysosomal β-mannosidase, was identified in patients with autosomal-dominant nystagmus. An additional mutation (c.2346T>A; p.L749H) in MANBA was found by screening patients with sporadic nystagmus. MANBA was expressed in the pretectal nucleus of the developing midbrain, known to be involved in oculomotor and optokinetic nystagmus. Functional validation of these mutations demonstrated a significant decrease of β-mannosidase activities in the patients as well as in mutant-transfected HEK293T cells. Further analysis revealed that nystagmus is present in at least 24 different LSDs involving the brain.Conclusion:This is the first identification of MANBA mutations in patients with autosomal-dominant nystagmus, suggesting a new clinical entity. Because β-mannosidase activities are required for development of the oculomotor nervous system, our findings shed new light on the role of LSD-associated genes in the pathogenesis of infantile nystagmus.Genet Med advance online publication 05 March 2015Genetics in Medicine (2015); doi:10.1038/gim.2015.10.
    Genetics in Medicine 03/2015; DOI:10.1038/gim.2015.10
  • Genetics in Medicine 03/2015; 17(3):242-242. DOI:10.1038/gim.2015.1
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    ABSTRACT: Purpose:Retinitis pigmentosa (RP) is a major cause of heritable human blindness with extreme genetic heterogeneity. A large number of causative genes have been defined by next-generation sequencing (NGS). However, due to technical limitations, determining the existence of uncovered or low-depth regions is a fundamental challenge in analyzing NGS data. Therefore, undetected mutations may exist in genomic regions less effectively covered by NGS.Methods:To address this problem, we tested a complementary approach for identifying previously undetected mutations in NGS data sets. The strategy consisted of coverage-based analysis and additional target screening of low-depth regions. Fifty RP patients were analyzed, and none of the mutations found had previously been identified by NGS.Results:Coverage-based analysis indicated that, because of a highly repetitive sequence, the RPGR open reading frame (ORF)15 was located in an uncovered or low-depth region. Through additional screening of ORF15, we identified pathogenic mutations in 14% (7/50) of patients, including four novel mutations first described herein.Conclusion:In brief, we support the need for a complementary approach to identify mutations undetected by NGS, underscoring the power and significance of combining coverage-based analysis with additional target screening of low-depth regions in improving diagnosis of genetic diseases. In addition to its usefulness in RP, this approach is likely applicable to other Mendelian diseases.Genet Med advance online publication 08 January 2015Genetics in Medicine (2014); doi:10.1038/gim.2014.193.
    Genetics in Medicine 01/2015; DOI:10.1038/gim.2014.193
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    ABSTRACT: Purpose:Inherited retinal dystrophy (IRD) is a leading cause of blindness worldwide. Because of extreme genetic heterogeneity, the etiology and genotypic spectrum of IRD have not been clearly defined, and there is limited information on genotype-phenotype correlations. The purpose of this study was to elucidate the mutational spectrum and genotype-phenotype correlations of IRD.Methods:We developed a targeted panel of 164 known retinal disease genes, 88 candidate genes, and 32 retina-abundant microRNAs, used for exome sequencing. A total of 179 Chinese families with IRD were recruited.Results:In 99 unrelated patients, a total of 124 mutations in known retinal disease genes were identified, including 79 novel mutations (detection rate, 55.3%). Moreover, novel genotype-phenotype correlations were discovered, and phenotypic trends noted. Three cases are reported, including the identification of AHI1 as a novel candidate gene for nonsyndromic retinitis pigmentosa.Conclusion:This study revealed novel genotype-phenotype correlations, including a novel candidate gene, and identified 124 genetic defects within a cohort with IRD . The identification of novel genotype-phenotype correlations and the spectrum of mutations greatly enhance the current knowledge of IRD phenotypic and genotypic heterogeneity, which will assist both clinical diagnoses and personalized treatments of IRD patients.Genet Med advance online publication 6 November 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.138.
    Genetics in Medicine 11/2014; DOI:10.1038/gim.2014.138.
  • Genetics in Medicine 03/2014; 16(3):231-237.
  • Genetics in Medicine 01/2014;
  • Genetics in Medicine 09/2013; 15(9):671-672. DOI:10.1038/gim.2013.136
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    ABSTRACT: The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group found insufficient evidence to recommend prostate cancer antigen 3 (PCA3) testing to inform decisions for when to rebiopsy previously biopsy-negative patients for prostate cancer or to inform decisions to conduct initial biopsies for prostate cancer in at-risk men (e.g., previous elevated prostate-specific antigen test or suspicious digital rectal examination).
    Genetics in Medicine 09/2013; 16(4):338-346. DOI:10.1038/gim.2013.141