SNP information rs13078881

Research and publications:

  7509806   Human serum biotinidase. cDNA cloning, sequence, and characterization.

  9232193   Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

  9375914   Profound biotinidase deficiency in two asymptomatic adults.

  9654207   Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

  10206677   Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online.

  10400129   Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.

  10801053   Novel mutations cause biotinidase deficiency in Turkish children.

  11313766   Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation.

  12227467   Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening.

  12618081   Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency.

  14628140   Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies.

  15776412   Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.

  20301497   Biotinidase Deficiency.

  20435227   Clinical assessment incorporating a personal genome.

  20549359   High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.

  20556870   CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies

  20981092   A map of human genome variation from population-scale sequencing.

  21228398   Carrier testing for severe childhood recessive diseases by next-generation sequencing.

  22378278   Clinical utility gene card for: biotinidase deficiency.

  22975760   An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

  22995991   An informatics approach to analyzing the incidentalome.

  24033266   A systematic approach to assessing the clinical significance of genetic variants.

  24525934   Optic neuropathy due to biotinidase deficiency in a 19-year-old man.

  25087612   Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

  25333069   Disease variants in genomes of 44 centenarians.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  35046417   The QChip1 knowledgebase and microarray for precision medicine in Qatar.

  23757202   Free the data: one laboratory's approach to knowledge-based classification of genomic variants and preparation for integration of genomic data into EMR.