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Personalized genetic counseling for Stargardt disease : offspring risk estimates based on variant severity
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- Journal Article
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X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients
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- Journal Article
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A novel non-coding variant in DCLRE1C results in deregulated splicing and induces SCID through the generation of a truncated ARTEMIS protein that fails to support V(D)J recombination and DNA damage repair
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- Journal Article
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The phenotypic spectrum of patients with PHARC syndrome due to variants in ABHD12 : an ophthalmic perspective
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GATA2 deficiency and haematopoietic stem cell transplantation : challenges for the clinical practitioner
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Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
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Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease
(2020) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 117(16). p.9001-9012 -
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Three cases of molecularly confirmed Knobloch syndrome
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Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement
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Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
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ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
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Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
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The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene
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A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects
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- Journal Article
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Biallelic and monoallelic ESR2 variants associated with 46,XY disorders of sex development
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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
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arrEYE : a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs
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NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
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De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy
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Visual prognosis in USH2A-associated retinitis pigmentosa is worse for patients with Usher syndrome type IIa than for those with nonsyndromic retinitis pigmentosa
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Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice
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Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion
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Submicroscopic deletions at 13q32.1 cause congenital microcoria
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Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy
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The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy
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Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis
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Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
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Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination and histopathologic examination
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Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response
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Blepharophimosis-ptosis-epicanthus inversus syndrome
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Discordance for retinitis pigmentosa in two monozygotic twin pairs
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- Journal Article
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Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes
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FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions
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The transcription factor FOXL2 in ovarian function and dysfunction
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Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in Blepharophimosis syndrome