Human Mutation

Journal

Publication Venue For

  • Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.  42:3-7. 2021
  • Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.  41:641-654. 2020
  • Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1.  41:299-315. 2020
  • Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.  39:939-946. 2018
  • Neurofibromin (NF1) genetic variant structure–function analyses using a full-length mouse cDNA.  39:816-821. 2018
  • panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.  38:889-897. 2017
  • Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients.  36:1088-1099. 2015
  • High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.  36:1052-1063. 2015
  • Participant-Driven Matchmaking in the Genomic Era.  36:965-973. 2015
  • Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination.  35:215-226. 2014
  • Identification of Large NF1 duplications reciprocal to NAHR-Mediated Type-1 NF1 deletions.  35:1469-1475. 2014
  • Palindrome-Mediated and Replication-Dependent Pathogenic Structural Rearrangements within the NF1 Gene.  35:891-898. 2014
  • Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations. [34, 11, 1537-1546, 10.1002/humu.22398].  35:150-150. 2014
  • Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2.  34:587-594. 2013
  • Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel lca5 mutations and new genotype-phenotype correlations.  34:1537-1546. 2013
  • Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.  33:1599-1609. 2012
  • Review and update of SPRED1 mutations causing legius syndrome.  33:1538-1546. 2012
  • Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.  33:1141-1148. 2012
  • Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 F1 deletions.  33:372-383. 2012
  • FAS mRNA editing in human systemic lupus erythematosus.  32:1268-1277. 2011
  • Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).  32:213-219. 2011
  • mRNA editing, FAS, and systemic lupus erythematosus..  32. 2011
  • Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.  31:1142-1154. 2010
  • Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event.  31:552-560. 2010
  • Planning the human variome project: The Spain report.  30:496-510. 2009
  • Somatic mosaicism for copy number variation in differentiated human tissues.  29:1118-1124. 2008
  • A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: Utility and applications.  29:648-658. 2008
  • RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference.  29:299-305. 2008
  • Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption.  28:599-612. 2007
  • CAG and CTG repeat polymorphism in exons of human genes shows distinct features at the expandable loci.  28:451-458. 2007
  • Comprehensive NF1 screening on cultured Schwann cells from neurofibromas.  27:1030-1040. 2006
  • Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1.  24:491-501. 2004
  • The human FOXL2 mutation database.  24:189-193. 2004
  • NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas..  19:309. 2002
  • Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis..  18:164. 2001
  • Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.  15:541-555. 2000
  • Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects..  15:541-555. 2000
  • Mutations in Holoprosencephaly.  16:99-108. 2000
  • Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease. Mutations in brief no. 224. Online..  13:256. 1999
  • Analysis of 22 cystic fibrosis mutations in 62 patients from the flanders, Belgium, reveals a high prevalence of nordic mutation 394delTT.  10:236-238. 1997
  • Identification of a splice site mutation (2789 + 5 G>A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis.  9:332-338. 1997
  • Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT..  10:236-238. 1997
  • Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis..  9:332-338. 1997
  • Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.  7:151-154. 1996
  • Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure..  7:151-154. 1996
  • The first genetic marker detected in the promoter region of the thyroid peroxidase gene by single‐strand conformational polymorphism analysis.  2:418-419. 1993
  • Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.  1:380-387. 1992
  • International Standard Serial Number (issn)

  • 1059-7794
  • Electronic International Standard Serial Number (eissn)

  • 1098-1004