Human Mutation

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.  43:1377-1395. 2022

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).  43:1344. 2022

DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants.  43:1149-1161. 2022

Re-evaluation of missense variant classifications in NF2.  43:643-654. 2022

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.  43:266-282. 2022

Analysis of patient-specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine.  43:30-41. 2022

Targeted massively parallel sequencing of candidate regions on chromosome 22q predisposing to multiple schwannomas: An analysis of 51 individuals in a single-center experience.  43:74-84. 2022

Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy.  42:177-188. 2021

Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.  42:3-7. 2021

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3′ splice site mutations outside the canonical AG-dinucleotides.  41:1145-1156. 2020

Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform.  41:1131-1137. 2020

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

Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort.  39:1246-1261. 2018

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

Data Sharing in the Undiagnosed Diseases Network.  36:985-988. 2015

Participant-Driven Matchmaking in the Genomic Era.  36:965-973. 2015

Identification of Large NF1 duplications reciprocal to NAHR-Mediated Type-1 NF1 deletions.  35:1469-1475. 2014

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

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

Functional interaction between SNPs and microsatellite in the transcriptional regulation of insulin-like growth factor 1..  34:1289-1297. 2013

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

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

Disrupting TP53 in mouse models of human cancers.  21:321-326. 2003

Novel germline CDH1 mutations in hereditary diffuse gastric cancer families.  19:518-525. 2002

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