Associated Papers
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S6.xls › Sheet1
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency.
Rodríguez-Contreras FJ et al.
American Journal of Medical Genetics. Part A, 2019
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
29795570 (PubMed )
Supplement: pgen.1007329.s012.xlsx › Data_File_S3
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2
Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.
Rodriguez-Flores JL et al.
Human Mutation, 2014
Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.
Leslie EJ et al.
Clinical Genetics, 2013
Evaluation of germline BMP4 mutation as a cause of colorectal cancer.
Lubbe SJ et al.
Human Mutation, 2011
Mutations in BMP4 are associated with subepithelial, microform, and overt cleft lip.
Suzuki S et al.
American Journal of Human Genetics, 2009
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