Publications by authors named "George A Diaz"

62Publications

A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.

Clin Genet 2020 Aug 19. Epub 2020 Aug 19.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1111/cge.13835DOI Listing
August 2020

A novel Romani microdeletion variant in the promoter sequence of causes citrullinemia type I.

Mol Genet Metab Rep 2020 Sep 29;24:100619. Epub 2020 Jun 29.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100619DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7330059PMC
September 2020

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Mitochondrion 2019 01 4;44:58-64. Epub 2018 Jan 4.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA; Inherited Metabolic Diseases Clinic, Children's Hospital Colorado, Aurora, CO, USA.

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http://dx.doi.org/10.1016/j.mito.2018.01.001DOI Listing
January 2019

Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months.

J Inherit Metab Dis 2018 09 5;41(5):829-838. Epub 2018 Jan 5.

Clinical Development, Rare Diseases, Sanofi Genzyme, 1, Avenue Pierre Brossolette, 91385, Chilly-Mazarin, France.

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http://dx.doi.org/10.1007/s10545-017-0123-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133173PMC
September 2018

Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years.

Mol Genet Metab 2017 11 8;122(3):46-53. Epub 2017 Sep 8.

Children's Hospital of Pittsburgh, Pittsburgh, PA, USA; University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1016/j.ymgme.2017.09.002DOI Listing
November 2017

Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project.

Eur J Hum Genet 2017 02 4;25(3):280-292. Epub 2017 Jan 4.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1038/ejhg.2016.178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5315514PMC
February 2017

Liver transplantation for pediatric inherited metabolic disorders: Considerations for indications, complications, and perioperative management.

Pediatr Transplant 2016 Sep 21;20(6):756-69. Epub 2016 Jun 21.

Departments of Pediatrics, Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1111/petr.12741DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142218PMC
September 2016

Impact of Genomic Counseling on Informed Decision-Making among ostensibly Healthy Individuals Seeking Personal Genome Sequencing: the HealthSeq Project.

J Genet Couns 2016 10 22;25(5):1044-53. Epub 2016 Feb 22.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, USA.

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http://dx.doi.org/10.1007/s10897-016-9935-zDOI Listing
October 2016

Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders.

Expert Rev Endocrinol Metab 2016 28;11(6):467-473. Epub 2016 Sep 28.

Department of Genetics and Genomic Sciences, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1080/17446651.2016.1239526DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054484PMC
September 2016

Preparing the next generation of genomicists: a laboratory-style course in medical genomics.

BMC Med Genomics 2015 Aug 12;8:47. Epub 2015 Aug 12.

Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1498, New York, NY, 10029, USA.

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http://dx.doi.org/10.1186/s12920-015-0124-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4534145PMC
August 2015

Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance.

Mol Genet Metab 2015 Apr 19;114(4):537-46. Epub 2015 Feb 19.

Children's Hospital Colorado, Aurora, CO, USA; Department of Ophthalmology, University of Colorado School of Medicine, Aurora, CO, USA.

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http://dx.doi.org/10.1016/j.ymgme.2015.01.012DOI Listing
April 2015

How do students react to analyzing their own genomes in a whole-genome sequencing course?: outcomes of a longitudinal cohort study.

Genet Med 2015 Nov 29;17(11):866-74. Epub 2015 Jan 29.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

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http://dx.doi.org/10.1038/gim.2014.203DOI Listing
November 2015

Glycerol phenylbutyrate for the chronic management of urea cycle disorders.

Expert Rev Endocrinol Metab 2014 Sep 12;9(5):427-434. Epub 2014 Aug 12.

a Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1497, New York, NY 10029, USA.

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http://dx.doi.org/10.1586/17446651.2014.945908DOI Listing
September 2014

Informed decision-making among students analyzing their personal genomes on a whole genome sequencing course: a longitudinal cohort study.

Genome Med 2013 30;5(12):113. Epub 2013 Dec 30.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA ; Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, 1425 Madison Avenue, New York, NY 10029, USA.

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http://dx.doi.org/10.1186/gm518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3971344PMC
May 2014

Acute metabolic decompensation due to influenza in a mouse model of ornithine transcarbamylase deficiency.

Dis Model Mech 2014 Feb 21;7(2):205-13. Epub 2013 Nov 21.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1242/dmm.013003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917241PMC
February 2014

Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type.

Mol Genet Metab 2013 Nov 25;110(3):241-7. Epub 2013 Jul 25.

Departments of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.07.018DOI Listing
November 2013

Released on a WHIM.

Authors:
George A Diaz

Blood 2011 Nov;118(18):4764-5

Mount Sinai School of Medicine, NY, USA.

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http://dx.doi.org/10.1182/blood-2011-08-375162DOI Listing
November 2011

Genetic predictors of cue- and stress-induced cigarette craving: an exploratory study.

Exp Clin Psychopharmacol 2012 Feb 12;20(1):40-6. Epub 2011 Sep 12.

Department of Oncological Sciences, Mount Sinai School of Medicine New York, NY, USA.

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http://dx.doi.org/10.1037/a0025369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3576834PMC
February 2012

Protein tyrosine phosphatase PTPN14 is a regulator of lymphatic function and choanal development in humans.

Am J Hum Genet 2010 Sep;87(3):436-44

Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/j.ajhg.2010.08.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2933336PMC
September 2010

Oligoclonality, impaired class switch and B-cell memory responses in WHIM syndrome.

Clin Immunol 2010 Jun 11;135(3):412-21. Epub 2010 Mar 11.

Department of Genetics and Genomic Sciences, Mount Sinai Medical Center, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/j.clim.2010.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2868121PMC
June 2010

High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria.

Mol Genet Metab 2009 Dec 12;98(4):344-8. Epub 2009 Aug 12.

Mount Sinai School of Medicine, Department of Pediatrics, Division of Pediatric Cardiology, NY 10029, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.07.017DOI Listing
December 2009

Profiling of oxidative stress in patients with inborn errors of metabolism.

Mol Genet Metab 2009 Sep-Oct;98(1-2):173-80. Epub 2009 Jun 14.

Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2915835PMC
November 2009

Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Mol Genet Metab 2008 Aug 17;94(4):397-402. Epub 2008 Jun 17.

Children's National Medical Center, The George Washington University, School of Medicine, 111 Michigan Avenue, N.W., Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2640937PMC
August 2008

Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature.

Mol Genet Metab 2008 Jan 26;93(1):22-9. Epub 2007 Oct 26.

Department of Pediatrics, Mt. Sinai Medical Center, One Gustave L. Levy Place, New York, NY 10021, USA.

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http://dx.doi.org/10.1016/j.ymgme.2007.08.119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2786260PMC
January 2008

Parathyroid development and the role of tubulin chaperone E.

Horm Res 2007 27;67(1):12-21. Epub 2006 Sep 27.

Department of Developmental Genetics and Virology, Faculty of Health Sciences and National Institute for Biotechnology, Ben Gurion University of the Negev, Beer Sheva, Israel.

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http://dx.doi.org/10.1159/000095944DOI Listing
March 2007

Cryptic out-of-frame translational initiation of TBCE rescues tubulin formation in compound heterozygous HRD.

Proc Natl Acad Sci U S A 2006 Sep 28;103(36):13491-6. Epub 2006 Aug 28.

Department of Biochemistry, New York University Medical Center, 550 First Avenue, New York, NY 10016, USA.

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http://dx.doi.org/10.1073/pnas.0602798103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1569190PMC
September 2006

Human CD4+ CD25 high cells suppress proliferative memory lymphocyte responses to herpes simplex virus type 2.

J Virol 2006 Aug;80(16):8271-3

Department of Medicine, University of Washington, Seattle, Washington 98195, USA.

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http://dx.doi.org/10.1128/JVI.00656-06DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1563823PMC
August 2006

Sporadic case of warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis syndrome.

J Allergy Clin Immunol 2005 Nov 10;116(5):1101-5. Epub 2005 Oct 10.

Department of Immunology, St Bartholomew's Hospital, West Smithfield, London, EC1A 7BE, United Kingdom.

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http://dx.doi.org/10.1016/j.jaci.2005.08.040DOI Listing
November 2005

WHIM syndrome: a defect in CXCR4 signaling.

Curr Allergy Asthma Rep 2005 Sep;5(5):350-5

Department of Human Genetics, Mount Sinai School of Medicine, One Gustave L. Levy Place, Box 1498, New York, NY 10029, USA.

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http://dx.doi.org/10.1007/s11882-005-0005-0DOI Listing
September 2005

A case of Ramsay Hunt-like syndrome caused by herpes simplex virus type 2.

Clin Infect Dis 2005 May 13;40(10):1545-7. Epub 2005 Apr 13.

Department of Medicine, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1086/429624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1255911PMC
May 2005

CXCR4 mutations in WHIM syndrome: a misguided immune system?

Authors:
George A Diaz

Immunol Rev 2005 Feb;203:235-43

Departments of Human Genetics and Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA.

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http://dx.doi.org/10.1111/j.0105-2896.2005.00226.xDOI Listing
February 2005

Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.

J Pediatr Endocrinol Metab 2004 Dec;17(12):1583-90

Pediatric Endocrinology Unit and Department of Developmental Molecular Genetics, Soroka Medical Center and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.

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http://dx.doi.org/10.1515/jpem.2004.17.12.1583DOI Listing
December 2004

Genomic organization and sequence variation of the human integrin subunit alpha8 gene (ITGA8).

Matrix Biol 2004 Nov;23(7):487-96

Department of Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.1016/j.matbio.2004.08.005DOI Listing
November 2004

Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis.

Dev Biol 2004 Feb;266(2):299-309

Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA.

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http://dx.doi.org/10.1016/j.ydbio.2003.10.026DOI Listing
February 2004

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease.

Nat Genet 2003 May;34(1):70-4

Department of Human Genetics, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, New York 10029, USA.

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http://www.nature.com/articles/ng1149
Publisher Site
http://dx.doi.org/10.1038/ng1149DOI Listing
May 2003