List of works - David Parry

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

scientific article published on 23 May 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

scientific article published on 13 July 2015

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

scientific article published on 9 November 2015

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

scientific article published on 17 March 2015

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

scientific article published on 15 December 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

scientific article published on 14 August 2017

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

scientific article published on 8 November 2017

Characterizing the morbid genome of ciliopathies. ⬇️

scientific article

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

scientific article published on 21 April 2016

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

scientific article

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency

scientific article published on 6 December 2018

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

scientific article

De novo mutations in autosomal recessive congenital malformations.

scientific article

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta ⬇️

scientific article

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

scientific article

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

scientific article published on 26 November 2018

Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

scientific article

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

scientific article published on 6 November 2017

HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome ⬇️

scientific article

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

scientific article

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

scientific article published on 29 December 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.

scientific article published on 13 July 2015

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

scientific article published on 30 April 2009

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Mutations in TJP2 cause progressive cholestatic liver disease

scientific article

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 26 July 2018

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

scientific article published on 6 September 2018

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

scientific article published on 20 September 2016

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

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

Null mutations in LTBP2 cause primary congenital glaucoma

scientific article published on 09 April 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.

scientific article published on 15 March 2016

Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis

scientific article published on 29 May 2012

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

scientific article

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

scientific article published on 14 May 2012

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

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

scientific article published on 09 February 2022

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

scientific article published on 15 March 2018

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

scientific article

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

scientific article

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

scientific article published on 21 February 2015

List of works by 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 ⬇️