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GenomicsNext Generation Mendelian Genetics: Kabuki Syndrome

The ultimate purpose of this research is to identify genes causing hereditary disorders. We are scaling a new approach to identify the candidate genes and gene mutations that underlie rare human Mendelian (a set of primary tenets relating to the transmission of hereditary characteristics from...

phs000295.v1.p1 | EGA
Genomicsena-DATASET-BAMS-05-01-2017-02:07:22:122-13 - samples
Whole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS). The dataset includes 21 samples from 7 families with BAMS; see Gordon et al, Nature Genetics, 2017.
EGAD00001003130 | EGA
GenomicsWhole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS).
The datasets includes 21 samples from 7 families with Bosma arhinia microphthalmia (BAMS). For details of the study please refer to the manuscript "De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development", Nature Genetics 2017. Each sample was exome seq...
EGAS00001002193 | EGA
GenomicsData access committee for BAMS exome sequencing data.
Data Access Committee EGAC00001000583
EGAC00001000583 | EGA
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