Branchiootorenal spectrum disorder (BORSD) is a group of rare autosomal dominant entities
characterized by branchiogenic malformations, hearing loss (HL) and renal anomalies. It …

Congenital anomalies of the kidney and urinary tract (CAKUT) form a group of
heterogeneous disorders that affect the kidneys, ureters and bladder, with frequent …

Background: Branchio-oto-renal syndrome (BOR) and branchio-oto syndrome (BOS) are
rare autosomal dominant disorders defined by varying combinations of branchial, otic, and …

Abstract The BTBR T+ Itpr3 tf/J (BTBR/J) strain is one of the most valid models of idiopathic
autism, serving as a potent forward genetics tool to dissect the complexity of autism. We …

Objectives Branchio‐oto‐renal (BOR) syndrome is characterized by branchial defects,
hearing loss, preauricular pits, and renal anomalies, whereas patients with all symptoms …

We developed a sensitive sequencing approach that simultaneously profiles microsatellite
instability, chromosomal instability, and subclonal structure in cancer. We assessed diverse …

Pathogenic structure variations (SVs) are associated with various types of cancer and rare
genetic diseases. Recent studies have used Cas9 nuclease with paired guide RNAs …

Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder
characterized by branchial fistulas, hearing impairment, renal malformations and auricular …

Objective Branchio-oto-renal syndrome (BOR, OMIM# 113,650) is a rare autosomal
dominant disorder that presents with a variety of symptoms, including hearing loss …

Background Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder
characterized by deafness, branchiogenic malformations and renal abnormalities …