List of works - Keren J Carss

A clinical and molecular characterisation of CRB1-associated maculopathy ⬇️

scientific article published in February 2018

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

scientific article published on 26 October 2017

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

scientific article published on 21 January 2017

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa

scientific article published on 5 January 2017

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

article

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

scientific article published on 28 December 2016

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

scientific article published in May 2017

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

scientific article published on 23 February 2017

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures ⬇️

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability

scientific article published on 27 March 2014

Delineating the expanding phenotype associated with SCAPER gene mutation

scientific article published on 13 June 2019

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

scientific article

Exome Sequencing in Fetuses with Structural Malformations

scientific article published on 8 July 2014

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

scientific article

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

scientific article published on 26 July 2016

Further study of chromosome 7p22 to identify the molecular basis of familial hyperaldosteronism type II.

scientific article published on 7 October 2010

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

scientific article

Genomic variation in the vomeronasal receptor gene repertoires of inbred mice

scientific article

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans ⬇️

scientific article published on 22 February 2018

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

scientific article published in November 2016

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

scientific article

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

scientific article published on 07 November 2015

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

scientific article

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

scientific journal article

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

scientific article

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

scientific article

Phenotypic insights into ADCY5-associated disease.

scientific article published on 08 April 2016

Prenatal exome sequencing for fetuses with structural abnormalities: the next step

scientific article published on 09 December 2014

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

scientific article published in September 2016

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy ⬇️

scientific article published on June 2017

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

scientific article published on 9 September 2015

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.

scientific article published on 28 November 2016

List of works by Keren J Carss

A clinical and molecular characterisation of CRB1-associated maculopathy ⬇️

Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. ⬇️

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures ⬇️

De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability

Delineating the expanding phenotype associated with SCAPER gene mutation

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

Exome Sequencing in Fetuses with Structural Malformations

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Further study of chromosome 7p22 to identify the molecular basis of familial hyperaldosteronism type II.

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

Genomic variation in the vomeronasal receptor gene repertoires of inbred mice

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans ⬇️

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Phenotypic insights into ADCY5-associated disease.

Prenatal exome sequencing for fetuses with structural abnormalities: the next step

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy ⬇️

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability

The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants

Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.