Lista de obras - David Parry - Dominio Público Uruguay

A Case of SLC29A3 Spectrum Disorder-Unresponsive to Multiple Immunomodulatory Therapies ⬇️

artículo científico publicado en 2016

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

article

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes

artículo científico publicado en 2015

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency ⬇️

artículo científico publicado en 2015

A new case of Fas-associated death domain protein deficiency and update on treatment outcomes ⬇️

artículo científico publicado en 2015

A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection

artículo científico publicado en 2020

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

scientific journal article

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy

artículo científico publicado en 2017

Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation ⬇️

artículo científico publicado en 2017

Characterizing the morbid genome of ciliopathies. ⬇️

artículo científico publicado en 2016

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study ⬇️

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

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

artículo científico publicado en 2018

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome ⬇️

artículo científico publicado en 2014

De novo mutations in autosomal recessive congenital malformations.

artículo científico publicado en 2016

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta ⬇️

artículo científico publicado en 2014

Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. ⬇️

artículo científico publicado en 2016

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

artículo científico publicado en 2018

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

artículo científico publicado en 2011

Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications. ⬇️

artículo científico publicado en 2017

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome ⬇️

artículo científico publicado en 2015

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

artículo científico publicado en 2011

Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.

artículo científico publicado en 2010

Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta

scientific journal article

Investigation into the Importance of genes encoding ciliary proteins in congenital heart disease using whole exome sequencing.

artículo científico publicado en 2015

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

artículo científico publicado en 2009

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte

artículo científico publicado en 2011

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta

artículo científico publicado en 2012

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia ⬇️

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

artículo científico publicado en 2012

Mutations in TJP2 cause progressive cholestatic liver disease

artículo científico publicado en 2014

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

artículo científico publicado en 2018

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta ⬇️

artículo científico publicado en 2016

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations ⬇️

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Null mutations in LTBP2 cause primary congenital glaucoma

artículo científico publicado en 2009

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

scientific article published on 15 October 2020

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

artículo científico publicado en 2016

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

artículo científico publicado en 2012

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

artículo científico publicado en 2013

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

artículo científico publicado en 2012

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

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

artículo científico publicado en 2022

Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta

artículo científico publicado en 2018

The role of primary cilia in the development and disease of the retina

artículo científico publicado en 2014

Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.

artículo científico publicado en 2009

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations ⬇️

artículo científico publicado en 2015

Lista de obras de David Parry

A Case of SLC29A3 Spectrum Disorder-Unresponsive to Multiple Immunomodulatory Therapies ⬇️

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

A high-throughput genome-wide siRNA screen for ciliogenesis identifies new ciliary functional components and ciliopathy genes

A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency ⬇️

A new case of Fas-associated death domain protein deficiency and update on treatment outcomes ⬇️

A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes ⬇️

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy

Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation ⬇️

Characterizing the morbid genome of ciliopathies. ⬇️

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study ⬇️

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

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome ⬇️

De novo mutations in autosomal recessive congenital malformations.

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta ⬇️

Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. ⬇️

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications. ⬇️

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome ⬇️

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

Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.

Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta

Investigation into the Importance of genes encoding ciliary proteins in congenital heart disease using whole exome sequencing.

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice

Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling

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

Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte

Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta

Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia ⬇️

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

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Mutations in TJP2 cause progressive cholestatic liver disease

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta ⬇️

Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations ⬇️

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

Null mutations in LTBP2 cause primary congenital glaucoma

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

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

Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

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

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta

The role of primary cilia in the development and disease of the retina

Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation.

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations ⬇️