Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

(2020) Htoo A. Wai et al.   GENETICS IN MEDICINE

Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants

(2020) Vasileios Toulis et al.   Genes

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

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

(2019) Miriam Bauwens et al.   GENETICS IN MEDICINE

Structural and evolutionary characteristics of dynamin-related GTPase OPA1

(2019) Dandan Li et al.   PeerJ

Deep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

(2019) Nicole Weisschuh et al.   HUMAN MUTATION

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

(2019) Zeinab Fadaie et al.   HUMAN MUTATION

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

(2019) Bastien Le Roux et al.   Orphanet Journal of Rare Diseases

Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved “One-Hit” Cohort with Stargardt Disease

(2019) Nassisi et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease

(2018) Silvia Albert et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss

(2018) Tina Likar et al.   PLoS One

Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration

(2018) Farzad Jamshidi et al.   GENETICS IN MEDICINE

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

(2018) Nicole Weisschuh et al.   PLoS One

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance

(2017) Zachry T. Soens et al.   HUMAN MUTATION

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

(2017) Edwin M. Stone et al.   OPHTHALMOLOGY

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1

(2016) Zachry T. Soens et al.   GENETICS IN MEDICINE

Deep Intronic Sequence Variants inCOL2A1Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment

(2016) Carl Spickett et al.   HUMAN MUTATION

Defective control of pre–messenger RNA splicing in human disease

(2016) Benoit Chabot et al.   JOURNAL OF CELL BIOLOGY

Molecular findings from 537 individuals with inherited retinal disease

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

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

Usher syndrome: An effective sequencing approach to establish a genetic and clinical diagnosis

(2015) S. Lenarduzzi et al.   HEARING RESEARCH

SpeedSeq: ultra-fast personal genome analysis and interpretation

(2015) Colby Chiang et al.   NATURE METHODS

RNA mis-splicing in disease

(2015) Marina M. Scotti et al.   NATURE REVIEWS GENETICS

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients

(2015) Lichun Jiang et al.   Orphanet Journal of Rare Diseases

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype–phenotype correlations and unexpected diagnostic revisions

(2014) Jacques Zaneveld et al.   GENETICS IN MEDICINE

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland

(2014) Li Zhao et al.   HUMAN GENETICS

In Brief: (Mis)splicing in disease

(2014) Simona Pedrotti et al.   JOURNAL OF PATHOLOGY

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Exon identity crisis: disease-causing mutations that disrupt the splicing code

(2014) Timothy Sterne-Weiler et al.   GENOME BIOLOGY

The Very Large G Protein Coupled Receptor (Vlgr1) in Hair Cells

(2012) Jin-Peng Sun et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

New connections between splicing and human disease

(2012) Richard A. Padgett   TRENDS IN GENETICS

Pre-mRNA splicing in disease and therapeutics

(2012) Ravi K. Singh et al.   TRENDS IN MOLECULAR MEDICINE

Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

(2011) Polona Le Quesne Stabej et al.   JOURNAL OF MEDICAL GENETICS

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

(2011) Gema Garcia-Garcia et al.   Orphanet Journal of Rare Diseases

Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

(2010) Anneke I. den Hollander et al.   JOURNAL OF CLINICAL INVESTIGATION

Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa

(2010) T. L. McGee et al.   JOURNAL OF MEDICAL GENETICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH