Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.

Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders. J Med Genet. 2019 02; 56(2):104-112.

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subject areas

Adolescent
Adult
Child
Child, Preschool
Chromosomal Proteins, Non-Histone
Chromosome Breakpoints
Chromosome Disorders
Ephrin-A5
Female
Humans
Infant
Male
Protein Phosphatase 2
Translocation, Genetic
Whole Genome Sequencing
Young Adult

authors with profiles

Anna Biernacka