List of works - Eamonn Sheridan

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome ⬇️

scientific article

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. ⬇️

scientific article

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development. ⬇️

scientific article

ABCA12 is the major harlequin ichthyosis gene

scientific article

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement ⬇️

scientific article

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54

scientific article

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

scientific article

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

scientific article

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

scientific article published on 14 March 2016

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain ⬇️

scientific article

Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs).

scientific article published in September 2005

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia ⬇️

scientific article published on 5 January 2016

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

scientific article

Extensive gene conversion at the PMS2 DNA mismatch repair locus

scientific article published on May 2007

Genetic diagnosis of familial breast cancer using clonal sequencing

scientific article

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

scientific article

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus ⬇️

scientific article

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

scientific article

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

scientific article

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

scientific article published on 29 September 2008

Illuminator, a desktop program for mutation detection using short-read clonal sequencing

scientific article published on 19 May 2011

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia

scientific article

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing ⬇️

scientific article

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

scientific article

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

scientific article

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects ⬇️

scientific article published on 7 November 2011

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome

scientific article

PEDIA: prioritization of exome data by image analysis

scientific article published on 05 June 2019

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism

scientific article

Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study

scientific article published on 4 July 2013

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface ⬇️

scientific article published on April 2014

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid

scientific article

T (brachyury) gene duplication confers major susceptibility to familial chordoma

scientific article published on 4 October 2009

The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A ⬇️

scientific article

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

scientific article

Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature

scientific article

Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype

scientific journal article

Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk

scientific article

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

scientific article

List of works by Eamonn Sheridan

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome ⬇️

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. ⬇️

A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development. ⬇️

ABCA12 is the major harlequin ichthyosis gene

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement ⬇️

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation

Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain ⬇️

Corroboration of a familial chordoma locus on chromosome 7q and evidence of genetic heterogeneity using single nucleotide polymorphisms (SNPs).

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia ⬇️

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

Extensive gene conversion at the PMS2 DNA mismatch repair locus

Genetic diagnosis of familial breast cancer using clonal sequencing

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

HEATR2 plays a conserved role in assembly of the ciliary motile apparatus ⬇️

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

Illuminator, a desktop program for mutation detection using short-read clonal sequencing

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia

Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing ⬇️

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)

Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects ⬇️

Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome

PEDIA: prioritization of exome data by image analysis

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism

Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study

Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface ⬇️

SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid

T (brachyury) gene duplication confers major susceptibility to familial chordoma

The 9p21.3 risk of childhood acute lymphoblastic leukaemia is explained by a rare high-impact variant in CDKN2A ⬇️

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

Variable expression of neurological phenotype in autosomal recessive oculodentodigital dysplasia of two sibs and review of the literature

Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype

Variation in CDKN2A at 9p21.3 influences childhood acute lymphoblastic leukemia risk

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6