Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one
dominant allele within the disease gene is sufficient to express the phenotype. Therefore …

To the Editor—Biologists are important stakeholders in genomic data, both as data
generators and as users of genomic data resources. Tools to efficiently visualize and …

Approximately 14.5 million Pakistani individuals have a hearing loss and half of these cases
may be due to genetic causes. Though significant progress has been made in uncovering …

Despite their burden, most congenital defects remain poorly understood, due to lack of
knowledge of embryological mechanisms. Here, we identify Greb1l mutants as a mouse …

The recently discovered neurological disorder NEDAMSS is caused by heterozygous
truncations in the transcriptional regulator IRF2BPL. Here, we reprogram patient skin …

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by aplasia of the
female reproductive tract; the syndrome can include renal anomalies, absence or …

Objective GREB1L has been linked prenatally to Potter's sequence, as well as less severe
anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is …

Mayer–Rokitansky–Küster–Hauser (MRKH) Syndrome is a sex development disorder that
affects 1 in every 4500 46, XX live births. At least a subset of MRKH syndrome is genetically …

In eutherian and marsupial mammals, the site of embryo implantation and gestation is the
uterus. Uterine morphologies vary between mammalian species. For example, laboratory …

Approximately half of congenital hearing impairment cases are inherited, with non-
syndromic hearing impairment (NSHI) being the most frequent clinical entity of genetic …