List of works - 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

scientific article published in February 2017

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

scientific article published on March 2017

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

scientific article published on 11 April 2015

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

scientific article published on 25 October 2018

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

scientific article published on 20 April 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

scientific article

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

scientific article published on 10 January 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

scientific article published on December 2016

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

scientific article published on 06 June 2018

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

scientific article

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

scientific article published on 01 April 2018

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

scientific article published on 27 June 2013

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

scientific article

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

scientific article

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

scientific article published on November 2015

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

scientific article published on December 2016

Genomic diagnostics within a medically underserved population: efficacy and implications

scientific article published on 20 July 2017

Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

scientific article

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

scientific article

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

scientific article

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

scientific article

Human genome sequencing in health and disease

scientific article

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

scientific article

Identical repeated backbone of the human genome

scientific article (publication date: 23 January 2010)

Integrating common and rare genetic variation in diverse human populations

scientific article (publication date: 2 September 2010)

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

scientific article published on 2 October 2011

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

scientific article published on 11 October 2012

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 5 January 2012

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

scientific article published on 26 October 2020

NR2F1 mutations cause optic atrophy with intellectual disability.

scientific article published on 23 January 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

scientific article published on 08 August 2019

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

scientific article published on 01 May 2018

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

scientific article published in August 2024

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

scientific article published on 20 July 2018

Recurrent DNA inversion rearrangements in the human genome

scholarly article

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

scientific article

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

scientific article

Whole-genome sequencing for optimized patient management

scientific article published in June 2011

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

scientific article

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

List of works by 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