Lista de obras - Jennifer E. Posey - Dominio Público Uruguay

22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease

artículo científico publicado en 2017

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

artículo científico publicado en 2017

A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis

artículo científico publicado en 2018

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo

artículo científico publicado en 2018

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

artículo científico publicado en 2019

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.

artículo científico publicado en 2016

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

artículo científico publicado en 2015

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

artículo científico publicado en 2020

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.

artículo científico publicado en 2015

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

artículo científico publicado en 2018

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

scientific article published on 11 July 2019

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

scientific article published on 14 April 2020

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

artículo científico publicado en 2019

Centers for Mendelian Genomics: A decade of facilitating gene discovery

artículo científico publicado en 2022

Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)

artículo científico publicado en 2020

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome

scientific article published on 21 September 2020

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

scientific article published on 17 May 2019

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2017

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

artículo científico publicado en 2018

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

artículo científico publicado en 2019

Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)

artículo científico publicado en 2020

Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance

artículo científico publicado en 2016

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

artículo científico publicado en 2016

Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease

scientific article published on 01 August 2019

Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family

scientific article published on 10 August 2019

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

scientific article published on 27 November 2019

Genome sequencing and implications for rare disorders

scientific article published on 24 June 2019

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis

article

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

artículo científico publicado en 2018

Insights into genetics, human biology and disease gleaned from family based genomic studies

article

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

Lysinuric Protein Intolerance Presenting with Multiple Fractures.

artículo científico publicado en 2014

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

artículo científico publicado en 2015

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

artículo científico publicado en 2020

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

scientific article published on 23 October 2019

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

artículo científico publicado en 2017

Molecular diagnostic experience of whole-exome sequencing in adult patients

artículo científico publicado en 2015

POGZ truncating alleles cause syndromic intellectual disability.

artículo científico publicado en 2016

Paradigm switching in the germinal center.

artículo científico publicado en 2004

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

scientific article published on 27 June 2019

Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)

artículo científico publicado en 2018

Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

scientific article published on 15 September 2020

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

artículo científico publicado en 2017

Phenotypic expansion illuminates multilocus pathogenic variation.

artículo científico publicado en 2018

Phenotypic expansion in - a common cause of intellectual disability in females

artículo científico publicado en 2018

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)

scientific article published on 29 November 2019

Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm

article

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses

artículo científico publicado en 2021

Reanalysis of Clinical Exome Sequencing Data

artículo científico publicado en 2019

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

artículo científico publicado en 2016

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

artículo científico publicado en 2019

Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome

artículo científico publicado en 2014

TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease

artículo científico publicado en 2019

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

scientific article published on 14 January 2019

Target DNA structure plays a critical role in RAG transposition

artículo científico publicado en 2006

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

scientific article published on 20 June 2019

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

artículo científico publicado en 2018

The phenotypic spectrum of Xia-Gibbs syndrome

artículo científico publicado en 2018

Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.

artículo científico publicado en 2015

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

artículo científico publicado en 2018

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

scientific article published on 31 March 2020

Lista de obras de Jennifer E. Posey

22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.

Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.

Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)

Dominant Transmission Observed in Adolescents and Families With Orthostatic Intolerance

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate

Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease

Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1

Genome sequencing and implications for rare disorders

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis

Insights into genetics, human biology and disease gleaned from family based genomic studies

Lessons learned from additional research analyses of unsolved clinical exome cases

Lysinuric Protein Intolerance Presenting with Multiple Fractures.

Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Molecular diagnostic experience of whole-exome sequencing in adult patients

POGZ truncating alleles cause syndromic intellectual disability.

Paradigm switching in the germinal center.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes

Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)

Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

Phenotypic expansion illuminates multilocus pathogenic variation.

Phenotypic expansion in - a common cause of intellectual disability in females

Phenotypic expansion of POGZ-related intellectual disability syndrome (White-Sutton syndrome)

Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm

Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses

Reanalysis of Clinical Exome Sequencing Data

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Syngnathia and obstructive apnea in a case of popliteal pterygium syndrome

TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease

TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model

Target DNA structure plays a critical role in RAG transposition

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease

The phenotypic spectrum of Xia-Gibbs syndrome

Triploidy mosaicism (45,X/68,XX) in an infant presenting with failure to thrive.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation