Claudia Gonzaga-Jauregui

Claudia Gonzaga-Jauregui

UNVERIFIED PROFILE

Are you Claudia Gonzaga-Jauregui?   Register this Author

Register author
Claudia Gonzaga-Jauregui

Claudia Gonzaga-Jauregui

Publications by authors named "Claudia Gonzaga-Jauregui"

Are you Claudia Gonzaga-Jauregui?   Register this Author

53Publications

2125Reads

40Profile Views

Novel risk genes and mechanisms implicated by exome sequencing of 2572 individuals with pulmonary arterial hypertension.

Genome Med 2019 Nov 14;11(1):69. Epub 2019 Nov 14.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue MLC 7016, Cincinnati, OH, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13073-019-0685-zDOI Listing
November 2019

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

Am J Hum Genet 2019 02 10;104(2):213-228. Epub 2019 Jan 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA; Institute of Mother and Child, 01-211 Warsaw, Poland. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183046
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369446PMC
February 2019

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

Am J Hum Genet 2018 11 25;103(5):794-807. Epub 2018 Oct 25.

National Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183035
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218603PMC
November 2018

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

Circ Genom Precis Med 2018 04;11(4):e001887

Department of Pediatrics (N.Z., C.W., L.M., U.K., E.B.R., W.K.C.), Herbert Irving Comprehensive Cancer Center (A.S., W.K.C.), and Department of Medicine (E.B.R., W.K.C.), Columbia University Medical Center, Department of Applied Physics and Applied Mathematics (H.Q.), Department of Systems Biology (N.Z., H.Q., Y.S.), and Department of Biomedical Informatics (Y.S.), Columbia University, New York, NY; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, NY (C.G.-J., A.K.K., J.G.R., J.D.O., A.B., F.D.); Department of Pediatric Cardiology, Children's Hospital Colorado, Denver (D.D.I.); Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN (E.D.A., R.H.); and Division of Human Genetics, Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, OH (W.C.N., M.W.P., K.A.L.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1161/CIRCGEN.117.001887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5896781PMC
April 2018

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.

Cell 2017 02;168(5):830-842.e7

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cell.2017.01.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407901PMC
February 2017

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

Mol Genet Genomic Med 2016 Jan 14;4(1):77-94. Epub 2015 Nov 14.

Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTexas; Department of PediatricsBaylor College of MedicineHoustonTexas; Texas Children's HospitalHoustonTexas; Department of OphthalmologyBaylor College of MedicineHoustonTexas; Department of MedicineBaylor College of MedicineHoustonTexas.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4707028PMC
January 2016

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

Neuron 2015 Nov;88(3):499-513

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S08966273150083
Publisher Site
http://dx.doi.org/10.1016/j.neuron.2015.09.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4824012PMC
November 2015

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

J Pediatr Gastroenterol Nutr 2014 Jul;59(1):17-21

*Department of Molecular and Human Genetics †Department of Pediatrics ‡Human Genome Sequencing Center §Section of Pediatric Pathology, Department of Pathology, Baylor College of Medicine, Houston, TX.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MPG.0000000000000363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4203304PMC
July 2014

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

Eur J Med Genet 2014 Jul 24;57(7):339-344. Epub 2014 Apr 24.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2014.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4065856PMC
July 2014

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

Genome Med 2013 27;5(6):57. Epub 2013 Jun 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA ; Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/gm461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706849PMC
May 2014

NR2F1 mutations cause optic atrophy with intellectual disability.

Am J Hum Genet 2014 Feb 23;94(2):303-9. Epub 2014 Jan 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2014.01.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928641PMC
February 2014

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

Hum Mutat 2013 Jan 11;34(1):210-20. Epub 2012 Oct 11.

Institute of Informatics, University of Warsaw, Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738003PMC
January 2013

Human genome sequencing in health and disease.

Annu Rev Med 2012 ;63:35-61

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1146/annurev-med-051010-162644DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656720PMC
May 2012

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

Neurogenetics 2010 Oct 9;11(4):465-70. Epub 2010 Jun 9.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-010-0247-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4222676PMC
October 2010

Integrating common and rare genetic variation in diverse human populations.

Nature 2010 Sep;467(7311):52-8

Broad Institute, 7 Cambridge Center, Cambridge, Massachusetts 02138, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nature09298DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3173859PMC
September 2010