In This Issue
Published in Genetics in Medicine
News
Published in Genetics in Medicine
News
Published in Genetics in Medicine
In This Issue
Published in Genetics in Medicine
Correction: Inferring fetal fractions from read heterozygosity empowers the noninvasive prenatal screening
...Published in Genetics in Medicine
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
In This Issue
Published in Genetics in Medicine
News
Published in Genetics in Medicine
DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract
...Published in Genetics in Medicine
PurposeHaploinsufficiency of DYRK1A causes a recognizable clinical syndrome. The goal of this paper is to investigate congenital anomalies of the kidney and urinary tract (CAKUT) and genital defects (GD) in patients with DYRK1A variants.MethodsA large database of clinical exome sequencing (ES) was queried for de novo DYRK1A variants and CAKUT/GD ph...
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder p...
...Published in Genetics in Medicine
PurposeWe observed four individuals in two unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature. The phenotype precisely matched that of an individual of Azorean descent p...
Cost-effectiveness of population genomic screening
Published in Genetics in Medicine
