Mosaic trisomy 8 as a cause of velopharyngeal insufficiency

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.

Journal of medical genetics·2020

Hearing Results of Surgery for Acquired Atresia of the External Auditory Canal.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·2019

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.

Molecular psychiatry·2018

ZNF462 and KLF12 are disrupted by a de novo translocation in a patient with syndromic intellectual disability and autism spectrum disorder.

European journal of medical genetics·2018

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

The American journal of psychiatry·2017