Clinical and genetic findings in TRPM1 ‐related congenital stationary night blindness

Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1

(2021) M. Delle Fave et al.   OPHTHALMIC GENETICS

Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4

(2021) Tomasz Z. Tomkiewicz et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Mice with mutations in Trpm1, a gene in the locus of 15q13.3 microdeletion syndrome, display pronounced hyperactivity and decreased anxiety-like behavior

(2021) Tesshu Hori et al.   Molecular Brain

Broad locations of antigenic regions for anti-TRPM1 autoantibodies in paraneoplastic retinopathy with retinal ON bipolar cell dysfunction

(2021) Daichi Gyoten et al.   EXPERIMENTAL EYE RESEARCH

Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

(2021) Charlie Rowlands et al.   Scientific Reports

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

(2021) Zeinab Fadaie et al.   npj Genomic Medicine

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

(2020) Sabrina Mechaussier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Antisense oligonucleotide- and CRISPR-Cas9-mediated rescue of mRNA splicing for a deep intronic CLRN1 mutation

(2020) Anna-Lena Panagiotopoulos et al.   Molecular Therapy-Nucleic Acids

A comparison of the Grass strobe and new LED photic stimulator for paediatric electroretinogram recordings

(2020) Alkiviades Liasis et al.   DOCUMENTA OPHTHALMOLOGICA

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

(2020) Anna Skorczyk-Werner et al.   Orphanet Journal of Rare Diseases

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

(2019) Riccardo Sangermano et al.   GENETICS IN MEDICINE

Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10

(2019) Morgan L. Maeder et al.   NATURE MEDICINE

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F ‐mediated inherited retinal disorders

(2019) Christina Zeitz et al.   HUMAN MUTATION

Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children

(2018) Virginia Miraldi Utz et al.   JAMA Ophthalmology

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

(2017) Jamie M Ellingford et al.   JOURNAL OF MEDICAL GENETICS

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease

(2017) Rachel L. Taylor et al.   OPHTHALMOLOGY

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

(2016) Ajoy Vincent et al.   AMERICAN JOURNAL OF HUMAN GENETICS

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular findings from 537 individuals with inherited retinal disease

(2016) Jamie M Ellingford et al.   JOURNAL OF MEDICAL GENETICS

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease

(2016) Jamie M. Ellingford et al.   OPHTHALMOLOGY

The 15q13.3 deletion syndrome: Deficient α7-containing nicotinic acetylcholine receptor-mediated neurotransmission in the pathogenesis of neurodevelopmental disorders

(2016) Stephen I. Deutsch et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

WholeUSH2AGene Sequencing Identifies Several New Deep Intronic Mutations

(2015) Alessandro Liquori et al.   HUMAN MUTATION

Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

(2015) Christina Zeitz et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions includingTRPM1: A differential diagnosis of ceroid lipofuscinosis

(2014) Alice Masurel-Paulet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ISCEV Standard for full-field clinical electroretinography (2015 update)

(2014) Daphne L. McCulloch et al.   DOCUMENTA OPHTHALMOLOGICA

Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

(2014) Chelsea Lowther et al.   GENETICS IN MEDICINE

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease

(2012) James O'Sullivan et al.   JOURNAL OF MEDICAL GENETICS

Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings

(2011) Malte Spielmann et al.   European Journal of Medical Genetics

A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of theTRPM1,CHRNA7, and other homozygously deleted genes

(2010) Jean-Baptiste LePichon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

TRPM1: The endpoint of the mGluR6 signal transduction cascade in retinal ON-bipolar cells

(2010) Catherine W. Morgans et al.   BIOESSAYS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness

(2009) Maria M. van Genderen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness

(2009) Isabelle Audo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recessive Mutations of the Gene TRPM1 Abrogate ON Bipolar Cell Function and Cause Complete Congenital Stationary Night Blindness in Humans

(2009) Zheng Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

(2009) K. Ye et al.   BIOINFORMATICS

Visually impaired children: “coming to better terms”

(2009) Frans C. C. Riemslag   DOCUMENTA OPHTHALMOLOGICA