Publication Venue For
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations
Corrigendum to: Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform (Human Mutation, (2020), 41, 6, (1131-1137), 10.1002/humu.24008)
DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants
Re-evaluation of missense variant classifications in NF2
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine
Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience
Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG-dinucleotides
Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes
Neurofibromin (NF1) genetic variant structure–function analyses using a full-length mouse cDNA
panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics
Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation
Data Sharing in the Undiagnosed Diseases Network
Participant-Driven Matchmaking in the Genomic Era
Identification of Large NF1 duplications reciprocal to NAHR-Mediated Type-1 NF1 deletions
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
Palindrome-Mediated and Replication-Dependent Pathogenic Structural Rearrangements within the NF1 Gene
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]
Functional interaction between SNPs and microsatellite in the transcriptional regulation of insulin-like growth factor 1.
Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2
Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel lca5 mutations and new genotype-phenotype correlations
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder
Review and update of SPRED1 mutations causing legius syndrome
Splice site, frameshift, and chimeric GFAP mutations in Alexander disease
Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 F1 deletions
FAS mRNA editing in human systemic lupus erythematosus
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)
mRNA editing, FAS, and systemic lupus erythematosus.
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event
Planning the human variome project: The Spain report
Somatic mosaicism for copy number variation in differentiated human tissues
A panel of ancestry informative markers for estimating individual biogeographical ancestry and admixture from four continents: Utility and applications
RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference
Extensive in silico analysis of NF1 splicing defects uncovers determinants for splicing outcome upon 5′ splice-site disruption
Comprehensive NF1 screening on cultured Schwann cells from neurofibromas
Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1
The human FOXL2 mutation database
Disrupting TP53 in mouse models of human cancers
Novel germline CDH1 mutations in hereditary diffuse gastric cancer families
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
Mutations in Holoprosencephaly
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.
Analysis of 22 cystic fibrosis mutations in 62 patients from the flanders, Belgium, reveals a high prevalence of nordic mutation 394delTT
Identification of a splice site mutation (2789 + 5 G>A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis
Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT.
Identification of a splice site mutation (2789 +5 G > A) associated with small amounts of normal CFTR mRNA and mild cystic fibrosis.
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure
Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure.
The first genetic marker detected in the promoter region of the thyroid peroxidase gene by single‐strand conformational polymorphism analysis
Characterization of an intron 12 splice donor mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene
International Standard Serial Number (issn)
Electronic International Standard Serial Number (eissn)