Regie Lyn P Santos-Cortez

Regie Lyn P Santos-Cortez

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Regie Lyn P Santos-Cortez

Regie Lyn P Santos-Cortez

Publications by authors named "Regie Lyn P Santos-Cortez"

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Panel 3: Genomics, precision medicine and targeted therapies.

Int J Pediatr Otorhinolaryngol 2019 Dec 24:109835. Epub 2019 Dec 24.

Center for Genomic Sciences, Institute for Molecular Medicine and Infectious Disease, Department of Microbiology and Immunology, Drexel University College of Medicine, 245 N. 15th St., Philadelphia, PA 19102, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijporl.2019.109835DOI Listing
December 2019

Genotype and Blood Type Are Associated with Otitis Media.

Genet Test Mol Biomarkers 2019 Nov;23(11):823-827

Department of Otolaryngology, University of Colorado School of Medicine, Aurora, Colorado.

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http://dx.doi.org/10.1089/gtmb.2019.0135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6857544PMC
November 2019

Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.

Eur J Hum Genet 2019 Sep 3;27(9):1456-1465. Epub 2019 May 3.

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

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http://www.nature.com/articles/s41431-019-0417-2
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http://dx.doi.org/10.1038/s41431-019-0417-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777454PMC
September 2019

FUT2 Variants Confer Susceptibility to Familial Otitis Media.

Am J Hum Genet 2018 11 25;103(5):679-690. Epub 2018 Oct 25.

Department of Otorhinolaryngology, Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183032
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http://dx.doi.org/10.1016/j.ajhg.2018.09.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6217759PMC
November 2018

A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family.

Eur J Dermatol 2018 Apr;28(2):209-216

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, 45320, Pakistan.

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http://dx.doi.org/10.1684/ejd.2017.3210DOI Listing
April 2018

Identification of ASAH1 as a susceptibility gene for familial keloids.

Eur J Hum Genet 2017 10 26;25(10):1155-1161. Epub 2017 Jul 26.

Center for Regenerative Medicine and Skeletal Development, Department of Reconstructive Sciences, University of Connecticut Health Center, Farmington, CT, USA.

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http://dx.doi.org/10.1038/ejhg.2017.121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5602022PMC
October 2017

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.

Hum Mutat 2016 10 21;37(10):991-1003. Epub 2016 Aug 21.

Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, 20892.

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http://dx.doi.org/10.1002/humu.23042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5021573PMC
October 2016

Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms.

J Am Heart Assoc 2016 07 14;5(7). Epub 2016 Jul 14.

Department of Epidemiology, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht, The Netherlands

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http://dx.doi.org/10.1161/JAHA.115.002603DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015357PMC
July 2016

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

Circ Res 2016 Mar 12;118(6):928-34. Epub 2016 Jan 12.

From the Departments of Internal Medicine (D.G., E.S.R., L.G., X.D., Z.R., B.C., E.M.H., D.M.M.) and Cardiothoracic and Vascular Surgery (A.E., H.J.S.), University of Texas Health Science Center, Houston; Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L.); Laboratory for Vascular Translational Science, INSERM U1148, Hôpital Bichat, Paris, France (P.A., G.J., C.B.); Centre National de Référence pour le syndrome de Marfan et apparentés, Département de Génétique Moléculaire, AP-HP, Hôpital Bichat, Paris, France (P.A., C.B.); Department of Pediatrics, MetroHealth Medical Center, Cleveland, OH (R.M.); Department of Medicine, Stanford University Medical Center, CA (D.L.); and Department of Genome Sciences, University of Washington, Seattle (M.J.B., J.S., D.A.N.).

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http://dx.doi.org/10.1161/CIRCRESAHA.115.307130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4839295PMC
March 2016

RNF213 rare variants in an ethnically diverse population with Moyamoya disease.

Stroke 2014 Nov 2;45(11):3200-7. Epub 2014 Oct 2.

From the Division of Medical Genetics, Department of Internal Medicine, University of Texas Health Science Center, Houston (A.C.C., D.G., Z.R., K.F., E.S.R., H.P., D.M.M.); Department of Molecular and Human Genetics, Center for Statistical Genetics, Baylor College of Medicine, Houston, TX (R.L.P.S.-C., S.M.L., G.T.W.); Department of Genome Sciences (J.S., M.J.B., D.A.N.) and Department of Pediatrics (M.J.B.), University of Washington, Seattle; Department of Neurosurgery, Stanford University, CA (G.K.S.); and Clinical Innovation and Research Institute, Memorial Hermann Hospital, Houston, TX (J.C.G.).

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http://dx.doi.org/10.1161/STROKEAHA.114.006244DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4420622PMC
November 2014

Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data.

Am J Hum Genet 2014 Jan 19;94(1):33-46. Epub 2013 Dec 19.

Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.11.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882934PMC
January 2014

Autosomal Recessive Nonsyndromic Hearing Impairment due to a Novel Deletion in the RDX Gene.

Genet Res Int 2011 1;2011:294675. Epub 2011 Nov 1.

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

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http://dx.doi.org/10.4061/2011/294675DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335613PMC
August 2012

A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families.

Genet Res Int 2011 25;2011:368915. Epub 2011 Sep 25.

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

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http://dx.doi.org/10.4061/2011/368915DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3335572PMC
August 2012

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

Am J Med Genet A 2012 Feb 13;158A(2):315-21. Epub 2012 Jan 13.

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

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http://dx.doi.org/10.1002/ajmg.a.34407DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276114PMC
February 2012

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

J Hum Genet 2011 Dec 22;56(12):866-8. Epub 2011 Sep 22.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1038/jhg.2011.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245365PMC
December 2011

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.

Hum Genet 2011 Apr 22;129(4):379-85. Epub 2010 Dec 22.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, 45320, Pakistan.

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http://dx.doi.org/10.1007/s00439-010-0934-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3312604PMC
April 2011