Lista de obras - Susanne Roosing - Dominio Público Uruguay

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

artículo científico publicado en 2017

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

artículo científico publicado en 2012

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

artículo científico publicado en 2008

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Benchmarking deep learning splice prediction tools using functional splice assays

artículo científico publicado en 2021

Causes and consequences of inherited cone disorders.

artículo científico

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy ⬇️

artículo científico publicado el 20 de enero de 2012

Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy

artículo científico publicado en 2015

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy

artículo científico publicado en 2010

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

artículo científico publicado en 2014

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

artículo científico publicado en 2015

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

artículo científico publicado en 2009

Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

artículo científico publicado en 2010

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

artículo científico publicado en 2009

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

artículo científico publicado en 2017

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

artículo científico publicado en 2017

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes ⬇️

artículo científico publicado en 2018

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.

artículo científico publicado en 2016

Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4

artículo científico publicado en 2019

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

artículo científico publicado en 2013

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

artículo científico publicado en 2016

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy

artículo científico publicado en 2014

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

scientific journal article

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

scientific journal article

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

article

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

artículo científico publicado en 2015

Prenylation defects in inherited retinal diseases.

artículo científico

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

artículo científico publicado en 2010

Salmonella induces prominent gene expression in the rat colon

artículo científico publicado en 2007

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss

artículo científico publicado en 2021

The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.

artículo científico publicado en 2011

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy

artículo científico publicado en 2019

Lista de obras de Susanne Roosing

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

Benchmarking deep learning splice prediction tools using functional splice assays

Causes and consequences of inherited cone disorders.

Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy ⬇️

Clinical Utility Gene Card for: autosomal recessive cone-rod dystrophy

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

Heterozygous Deep-Intronic Variants and Deletions inABCA4in Persons with Retinal Dystrophies and One ExonicABCA4Variant

Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects.

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes ⬇️

Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.

Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

Prenylation defects in inherited retinal diseases.

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

Salmonella induces prominent gene expression in the rat colon

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss

The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy