List of works - Susanne Roosing

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

scientific article

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia

scientific article

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

scientific article

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

scientific article published on 20 May 2021

Causes and consequences of inherited cone disorders.

scientific article published on 22 May 2014

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

scientific article published on January 20, 2012

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

scientific article published on 15 April 2015

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

scientific article published on 15 January 2010

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

scientific article

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

scientific article published on 30 May 2015

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

scientific article published on 9 July 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

scientific article

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

scientific article

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

scientific article published on 16 August 2017

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

scientific article published on 27 September 2017

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

scientific article published on 10 January 2018

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

scientific article published on 31 May 2016

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

scientific article published on 03 September 2019

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

scientific article published on 15 March 2013

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

scientific article published on 06 May 2016

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

scientific article published on 13 September 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).

scientific article published on 9 April 2015

Prenylation defects in inherited retinal diseases.

scientific article published on 08 January 2014

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

scientific article published on 23 June 2010

Salmonella induces prominent gene expression in the rat colon

scientific article

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

scientific article published in 2021

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

scientific article published on 17 June 2011

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

scientific article published on 04 April 2019

List of works by 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