Lista de obras - Jessica X. Chong - Dominio Público Uruguay

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites

artículo científico publicado en 2011

A population-based study of autosomal-recessive disease-causing mutations in a founder population

artículo científico publicado en 2012

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

scientific article published on 16 February 2017

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.

artículo científico publicado en 2018

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.

artículo científico publicado en 2012

Accurate imputation of rare and common variants in a founder population from a small number of sequenced individuals

artículo científico publicado en 2012

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

artículo científico publicado en 2015

Centers for Mendelian Genomics: A decade of facilitating gene discovery

artículo científico publicado en 2022

Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

artículo científico publicado en 2015

Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1

article

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype

artículo científico publicado en 2016

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

artículo científico publicado en 2015

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

artículo científico publicado en 2014

Disclosure of genetic research results to members of a founder population

artículo científico publicado en 2014

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes

artículo científico publicado en 2017

Estimating the human mutation rate using autozygosity in a founder population

artículo científico publicado en 2012

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

artículo científico publicado en 2015

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

artículo científico publicado en 2011

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

artículo científico publicado en 2018

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

artículo científico publicado en 2016

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

article

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

artículo científico publicado en 2018

Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population

artículo científico publicado en 2013

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

artículo científico

Matchmaker Exchange

artículo científico publicado en 2017

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

artículo científico publicado en 2013

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

artículo científico publicado en 2014

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results

artículo científico publicado en 2014

Plain-language medical vocabulary for precision diagnosis.

artículo científico publicado en 2018

Practices and policies of clinical exome sequencing providers: analysis and implications.

artículo científico publicado en 2013

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.

artículo científico publicado en 2017

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

artículo científico publicado en 2016

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

artículo científico publicado en 2013

Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy

Solving glycosylation disorders: fundamental approaches reveal complicated pathways

artículo científico

Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

artículo científico publicado en 2017

Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis

artículo científico publicado en 2018

Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.

artículo científico publicado en 2017

Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma

artículo científico publicado en 2014

Lista de obras de Jessica X. Chong

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites

A population-based study of autosomal-recessive disease-causing mutations in a founder population

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5.

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America.

Accurate imputation of rare and common variants in a founder population from a small number of sequenced individuals

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Correction: Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

Disclosure of genetic research results to members of a founder population

ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes

Estimating the human mutation rate using autozygosity in a founder population

Exome Sequencing of Phenotypic Extremes Identifies CAV2 and TMC6 as Interacting Modifiers of Chronic Pseudomonas aeruginosa Infection in Cystic Fibrosis

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Matchmaker Exchange

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results

Plain-language medical vocabulary for precision diagnosis.

Practices and policies of clinical exome sequencing providers: analysis and implications.

Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy

Solving glycosylation disorders: fundamental approaches reveal complicated pathways

Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis

Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.

Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma