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A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

artículo científico publicado en 2017

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

artículo científico publicado en 2015

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.

artículo científico publicado en 2017

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration

artículo científico publicado en 2014

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies

artículo científico publicado en 2012

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

artículo científico publicado en 2015

Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.

artículo científico publicado en 2015

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects

scientific journal article

Molecular genetics of FAM161A in North American patients with early-onset retinitis pigmentosa.

artículo científico publicado en 2014

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

scientific journal article

Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies

artículo científico publicado en 2018

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene

scientific article published on 02 July 2019

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