Lista de obras - Eamonn Sheridan - Dominio Público Uruguay

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

ABCA12 is the major harlequin ichthyosis gene

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Extensive gene conversion at the PMS2 DNA mismatch repair locus

artículo científico

Genetic diagnosis of familial breast cancer using clonal sequencing

artículo científico publicado en 2010

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

artículo científico publicado en 2011

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

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination

artículo científico publicado en 2008

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

artículo científico

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

artículo científico publicado en 2004

PEDIA: prioritization of exome data by image analysis

artículo científico publicado en 2019

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

artículo científico publicado en 2013

Lista de obras de 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