about
Human genome sequencing in health and diseaseHuman CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionMonoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformationsGJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.Identical repeated backbone of the human genomeIntegrating common and rare genetic variation in diverse human populationsWhole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.High-resolution copy-number variation map reflects human olfactory receptor diversity and evolution.Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly.Clinical utility of whole-exome sequencing in rare diseases: GalactosialidosisWhole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4DMechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.Assessing structural variation in a personal genome-towards a human reference diploid genome.Recurrent DNA inversion rearrangements in the human genome.Whole-genome sequencing for optimized patient managementCOPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritisExome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyHutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac deathNIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype-phenotype correlationGenes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathyInverted low-copy repeats and genome instability--a genome-wide analysisNR2F1 mutations cause optic atrophy with intellectual disability.An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.Genomic diagnostics within a medically underserved population: efficacy and implications.Genetic identification of familial hypercholesterolemia within a single U.S. health care system.Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions.An Organismal CNV Mutator Phenotype Restricted to Early Human Development.Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndromeHomozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem diseaseBi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental DelayRare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart diseaseExome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults
P50
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P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
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name
Claudia Gonzaga-Jauregui
@ast
Claudia Gonzaga-Jauregui
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Claudia Gonzaga-Jauregui
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Claudia Gonzaga-Jauregui
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Claudia Gonzaga-Jauregui
@nl
Claudia Gonzaga-Jauregui
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type
label
Claudia Gonzaga-Jauregui
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Claudia Gonzaga-Jauregui
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Claudia Gonzaga-Jauregui
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Claudia Gonzaga-Jauregui
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Claudia Gonzaga-Jauregui
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Claudia Gonzaga-Jauregui
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prefLabel
Claudia Gonzaga-Jauregui
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Claudia Gonzaga-Jauregui
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Claudia Gonzaga-Jauregui
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Claudia Gonzaga-Jauregui
@fr
Claudia Gonzaga-Jauregui
@nl
Claudia Gonzaga-Jauregui
@sl
P106
P1153
18041993100
P21
P31
P3835
claudia-gonzaga-jauregui
P496
0000-0002-4667-3679