publication venue for
- CIC missense variants contribute to susceptibility for spina bifida. 2022
- The MAP3K7 gene: further delineation of clinical characteristics and genotype/phenotype correlations. 2022
- Qatar Genome: Insights on Genomics from the Middle East. 2022
- Human genes differ by their UV sensitivity estimated through analysis of UV-induced silent mutations in melanoma.. 41. 2020
- TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling.. 41. 2020
- Single-molecule detection of cancer mutations using a novel PCR-LDR-qPCR assay.. 41. 2020
- Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida.. 41. 2020
- A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.. 41. 2019
- Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.. 41. 2019
- Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.. 40. 2019
- SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.. 40. 2019
- A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.. 39. 2017
- Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.. 39. 2017
- Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.. 37. 2016
- Rare LRP6 variants identified in spina bifida patients.. 36. 2015
- Comprehensive analysis of pathogenic deletion variants in Fanconi anemia genes.. 35. 2014
- Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networks.. 35. 2014
- Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.. 35. 2013
- Human Variome Project country nodes: documenting genetic information within a country.. 33. 2012
- Detecting false-positive signals in exome sequencing.. 33. 2012
- Rare germline mutations in PALB2 and breast cancer risk: a population-based study.. 33. 2012
- Variants in activators and downstream targets of ATM, radiation exposure, and contralateral breast cancer risk in the WECARE study.. 33. 2011
- Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.. 32. 2011
- Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.. 31. 2010
- Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.. 30. 2009
- Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.. 30. 2009
- Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.. 29. 2008
- Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).. 29. 2008
- PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.. 29. 2008
- Recommendations for locus-specific databases and their curation.. 29. 2008
- Rapid identification of disease-causing mutations using copy number analysis within linkage intervals.. 28. 2007
- Schimke immunoosseous dysplasia: suggestions of genetic diversity.. 28. 2007
- Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome.. 27. 2006
- Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.. 25. 2005
- Harmonized microarray/mutation scanning analysis of TP53 mutations in undissected colorectal tumors.. 24. 2004
- Characterization of mutations in severe methylenetetrahydrofolate reductase deficiency reveals an FAD-responsive mutation.. 21. 2003
- Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.. 21. 2003
- Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancers.. 17. 2001
- Analysis of large-scale sequencing cohorts does not support the role of variants in UCP2 as a cause of hyperinsulinaemic hypoglycaemia.. 38. 2017