Publications by authors named "Daniel Pineda-Alvarez"

40Publications

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.

Hum Mutat 2020 Dec 10;41(12):2028-2057. Epub 2020 Nov 10.

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1002/humu.24107DOI Listing
December 2020

Response to Maya et al.

Genet Med 2020 Jul 28;22(7):1278-1279. Epub 2020 Apr 28.

Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA.

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http://dx.doi.org/10.1038/s41436-020-0796-3DOI Listing
July 2020

Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.

Am J Med Genet C Semin Med Genet 2018 06;178(2):175-186

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.c.31622DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127867PMC
June 2018

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

Hum Mutat 2018 12 24;39(12):1875-1884. Epub 2018 Sep 24.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/humu.23627DOI Listing
December 2018

Noninvasive prenatal screening for aneuploidy: positive predictive values based on cytogenetic findings.

Am J Obstet Gynecol 2015 Aug 3;213(2):214.e1-5. Epub 2015 Apr 3.

Department of Pathology, Stanford University School of Medicine, Palo Alto, CA.

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http://dx.doi.org/10.1016/j.ajog.2015.04.001DOI Listing
August 2015

Analysis of cardiac anomalies in VACTERL association.

Birth Defects Res A Clin Mol Teratol 2013 Dec;97(12):792-7

Department of Pediatrics, Walter Reed National Military Medical Center-Bethesda, Maryland; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/bdra.23211DOI Listing
December 2013

Comparison of mutation findings in ZIC2 between microform and classical holoprosencephaly in a Brazilian cohort.

Birth Defects Res A Clin Mol Teratol 2012 Nov 27;94(11):912-7. Epub 2012 Jul 27.

Molecular Genetics Laboratory and Clinical Genetics Service, Hospital for Rehabilitation and Craniofacial Anomalies, University of Sao Paolo, Bauru, Sao Paolo, Brazil.

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http://dx.doi.org/10.1002/bdra.23047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501551PMC
November 2012

Patients within the Broad Holoprosencephaly Spectrum have Distinct and Subtle Ophthalmologic Anomalies: Response to Khan.

Am J Med Genet A 2012 May 7;158A(5):1244-1245. Epub 2012 Feb 7.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/ajmg.a.35207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3331949PMC
May 2012

Incidental medical information in whole-exome sequencing.

Pediatrics 2012 Jun 14;129(6):e1605-11. Epub 2012 May 14.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1542/peds.2011-0080DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362899PMC
June 2012

A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.

Am J Med Genet A 2011 Nov 4;155A(11):2713-20. Epub 2011 Oct 4.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20814, USA.

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http://dx.doi.org/10.1002/ajmg.a.34261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200498PMC
November 2011

Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.

Hum Genet 2012 Feb 13;131(2):301-10. Epub 2011 Aug 13.

Medical Genetics Branch, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, MD 20892-3717, USA.

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http://dx.doi.org/10.1007/s00439-011-1078-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3695622PMC
February 2012

De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene.

Birth Defects Res A Clin Mol Teratol 2011 Sep 23;91(9):862-5. Epub 2011 May 23.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/bdra.20821DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3193386PMC
September 2011

Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association.

Eur J Med Genet 2011 May-Jun;54(3):323-8. Epub 2011 Feb 26.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1B207, 35 Convent Drive MSC 3717, Bethesda, MD 20892-3717, United States.

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http://dx.doi.org/10.1016/j.ejmg.2011.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3086932PMC
September 2011

VACTERL association and mitochondrial dysfunction.

Birth Defects Res A Clin Mol Teratol 2011 Mar 9;91(3):192-4. Epub 2011 Feb 9.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. solomonb@ mail.nih.gov

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http://dx.doi.org/10.1002/bdra.20768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3500509PMC
March 2011

Long-term outcomes of adults with features of VACTERL association.

Eur J Med Genet 2011 Jan-Feb;54(1):34-41. Epub 2010 Oct 1.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Building 35, Room 1B207, 35 Convent Drive MSC 3717, Bethesda, MD 20892-3717, USA.

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http://dx.doi.org/10.1016/j.ejmg.2010.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3033487PMC
June 2011

Analysis of component findings in 79 patients diagnosed with VACTERL association.

Am J Med Genet A 2010 Sep;152A(9):2236-44

Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1002/ajmg.a.33572DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2930065PMC
September 2010

Clinical utility gene card for: Holoprosencephaly.

Eur J Hum Genet 2011 Jan 21;19(1):preceeding 118-20. Epub 2010 Jul 21.

Génétique Moléculaire, UMR 6061 CNRS IGDR, CHU Pontchaillou,University of Rennes, Rennes, France.

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http://dx.doi.org/10.1038/ejhg.2010.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039493PMC
January 2011

Consideration of VACTERL association in patients with trisomy 21.

Clin Dysmorphol 2010 Oct;19(4):209-11

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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https://insights.ovid.com/crossref?an=00019605-201010000-000
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http://dx.doi.org/10.1097/MCD.0b013e32833b2b9cDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2933298PMC
October 2010

Evidence for inheritance in patients with VACTERL association.

Hum Genet 2010 Jun 6;127(6):731-3. Epub 2010 Apr 6.

Medical Genetics Branch, National Human Genome Research Institute, NIH MSC 3717, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1007/s00439-010-0814-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2871973PMC
June 2010

Analysis of genotype-phenotype correlations in human holoprosencephaly.

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):133-41

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

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http://dx.doi.org/10.1002/ajmg.c.30240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2815217PMC
February 2010

Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients.

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):93-101

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-3717, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30253
Publisher Site
http://dx.doi.org/10.1002/ajmg.c.30253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2815008PMC
February 2010

Holoprosencephaly flashcards: A summary for the clinician.

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):3-7

National Human Genome Research Institute, USA.

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http://dx.doi.org/10.1002/ajmg.c.30245DOI Listing
February 2010