Lista de obras - Claudia Gonzaga-Jauregui

A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant

scientific article published on 11 May 2019

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

scientific article published on 22 March 2019

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.

artículo científico publicado en 2017

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

artículo científico publicado en 2017

Assessing structural variation in a personal genome-towards a human reference diploid genome.

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

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

artículo científico publicado en 2015

Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort

scientific article published on 13 December 2019

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

artículo científico publicado en 2014

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

artículo científico publicado en 2019

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

scientific article published on 01 November 2019

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

artículo científico publicado en 2016

Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype

artículo científico publicado en 2018

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

artículo científico publicado en 2015

Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults

artículo científico publicado en 2018

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

artículo científico publicado en 2013

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

artículo científico publicado en 2013

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

scientific article published on 06 May 2020

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

scientific article published on 19 May 2020

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease

artículo científico publicado en 2010

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

artículo científico publicado en 2015

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

artículo científico publicado en 2016

Genomic diagnostics within a medically underserved population: efficacy and implications

artículo científico

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

artículo científico publicado en 2015

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

artículo científico publicado en 2014

High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution

artículo científico publicado en 2008

Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype

scientific article published on 11 March 2019

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

article

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

artículo científico publicado en 2014

Human genome sequencing in health and disease

artículo científico publicado en 2012

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

artículo científico publicado en 2015

Identical repeated backbone of the human genome

artículo científico publicado en 2010

Integrating common and rare genetic variation in diverse human populations

artículo científico publicado en 2010

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

artículo científico publicado en 2011

Inverted low-copy repeats and genome instability--a genome-wide analysis

artículo científico publicado en 2012

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

artículo científico publicado en 2010

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

artículo científico publicado en 2017

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

artículo científico publicado en 2014

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

artículo científico publicado en 2014

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

artículo científico publicado en 2013

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation

artículo científico publicado en 2012

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity

artículo científico publicado en 2020

NR2F1 mutations cause optic atrophy with intellectual disability.

artículo científico publicado en 2014

Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency

scientific article published on 09 September 2019

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

artículo científico publicado en 2019

Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes

artículo científico publicado en 2018

Rare Variant in <i>MRC2</i> Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome

artículo científico publicado en 2024

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

artículo científico publicado en 2018

Recurrent DNA inversion rearrangements in the human genome

artículo científico publicado en 2007

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

artículo científico publicado en 2015

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome

article

Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia

artículo científico publicado en 2014

Whole-genome sequencing for optimized patient management

artículo científico publicado en 2011

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

artículo científico publicado en 2010

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

scientific article published on 14 November 2019

Lista de obras de Claudia Gonzaga-Jauregui

A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant

A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

Assessing structural variation in a personal genome-towards a human reference diploid genome.

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

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Genetic identification of familial hypercholesterolemia within a single U.S. health care system

Genomic diagnostics within a medically underserved population: efficacy and implications

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome

High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution

Homozygosity for CHEK2 p.Gly167Arg leads to a unique cancer syndrome with multiple complex chromosomal translocations in peripheral blood karyotype

Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function

Human genome sequencing in health and disease

Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death

Identical repeated backbone of the human genome

Integrating common and rare genetic variation in diverse human populations

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

Inverted low-copy repeats and genome instability--a genome-wide analysis

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability

Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population

Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlation

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity

NR2F1 mutations cause optic atrophy with intellectual disability.

Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency

Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities

Profiling and Leveraging Relatedness in a Precision Medicine Cohort of 92,455 Exomes

Rare Variant in <i>MRC2</i> Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome

Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease

Recurrent DNA inversion rearrangements in the human genome

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome

Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia

Whole-genome sequencing for optimized patient management

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome