Publications by authors named "Pinar Bayrak-Toydemir"

77Publications

Elevated Leukodystrophy Incidence Predicted From Genomics Databases.

Pediatr Neurol 2020 10 17;111:66-69. Epub 2020 Jun 17.

Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah; Brain and Spine Center, Primary Children's Hospital, Salt Lake City, Utah; Primary Children's Center for Personalized Medicine, Salt Lake City, Utah. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2020.06.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7506144PMC
October 2020

Parkes Weber syndrome associated with two somatic pathogenic variants in .

Cold Spring Harb Mol Case Stud 2020 Aug 25;6(4). Epub 2020 Aug 25.

Department of Pathology, University of Utah, Salt Lake City, Utah 84108, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/mcs.a005256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7476407PMC
August 2020

Addendum: American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease.

Genet Med 2020 Jul 20. Epub 2020 Jul 20.

Department of Pathology, University of Utah School of Medicine and ARUP Laboratories, Salt Lake City, UT, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-020-0893-3DOI Listing
July 2020

Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2).

Genet Med 2020 Jul 17;22(7):1201-1205. Epub 2020 Apr 17.

Division of Cardiovascular Medicine, Department of Medicine, University of Utah, Salt Lake City, UT, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-020-0775-8DOI Listing
July 2020

Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.

Am J Med Genet A 2019 05 17;179(5):792-796. Epub 2019 Feb 17.

Division of Medical Genetics, University of Utah, Salt Lake City, Utah.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61091DOI Listing
May 2019

Characterization of a mutation in the zona pellucida module of Endoglin that causes Hereditary Hemorrhagic Telangiectasia.

Gene 2019 May 11;696:33-39. Epub 2019 Feb 11.

Molecular Medicine Department, General Biology and Medical Genetics Unit, University of Pavia, Via Forlanini 14, 27100 Pavia, Italy. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03781119193012
Publisher Site
http://dx.doi.org/10.1016/j.gene.2019.02.016DOI Listing
May 2019

Characterization of a family mutation in the 5' untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia.

J Hum Genet 2019 Apr 6;64(4):333-339. Epub 2019 Feb 6.

Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones Científicas (CSIC), and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28040, Madrid, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s10038-019-0564-xDOI Listing
April 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 02 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

Novel Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes.

Child Neurol Open 2018 23;5:2329048X18789282. Epub 2018 Jul 23.

Pediatric Motor Disorders Research Program, Department of Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/2329048X18789282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6056774PMC
July 2018

De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder.

Eur J Med Genet 2019 Jan 22;62(1):55-60. Epub 2018 May 22.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.05.003DOI Listing
January 2019

Tissue-specific mosaicism in hereditary hemorrhagic telangiectasia: Implications for genetic testing in families.

Am J Med Genet A 2018 07 7;176(7):1618-1621. Epub 2018 May 7.

ARUP Institute for Clinical and Experimental Pathology, University of Utah, Salt Lake City, Utah.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38695DOI Listing
July 2018

The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

Am J Med Genet A 2017 Nov 21;173(11):3022-3028. Epub 2017 Sep 21.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38485DOI Listing
November 2017

Pathogenic variants that alter protein code often disrupt splicing.

Nat Genet 2017 Jun 17;49(6):848-855. Epub 2017 Apr 17.

Center for Computational Molecular Biology, Brown University, Providence, Rhode Island, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.3837DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679692PMC
June 2017

EIF2AK4 Mutations in Patients Diagnosed With Pulmonary Arterial Hypertension.

Chest 2017 04 22;151(4):821-828. Epub 2016 Nov 22.

Department of Medicine, Intermountain Medical Center, Murray, UT; Department of Internal Medicine, University of Utah, Salt Lake City, UT. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.chest.2016.11.014DOI Listing
April 2017

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.

Neurology 2016 Sep 24;87(11):1131-9. Epub 2016 Aug 24.

From the Department of Biology and Howard Hughes Medical Institute (E.G.B., E.M.J.), and Department of Pathology (Y.S., P.B.-T.), University of Utah, Salt Lake City; ARUP Institute for Clinical and Experimental Pathology (Y.S., P.B.-T.), Salt Lake City, UT; Division of Medical Genetics (D.A.S.), Department of Pediatrics, Stanford University, CA; Department of Neurology (T.M.N.), Pediatric Motor Disorders Research Program, University of Utah School of Medicine, Salt Lake City; and Department of Neurology (K.J.S.), Massachusetts General Hospital, Boston.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000003095DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027803PMC
September 2016

Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.

Am J Med Genet A 2016 12 19;170(12):3207-3214. Epub 2016 Aug 19.

Department of Experimental Medicine, University of Genova, Genova, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37933DOI Listing
December 2016

RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.

Am J Med Genet A 2016 06 11;170(6):1450-4. Epub 2016 Mar 11.

Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37613DOI Listing
June 2016

Genetic Variants Associated with Port-Wine Stains.

PLoS One 2015 20;10(7):e0133158. Epub 2015 Jul 20.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, United States of America; Department of Pathology, University of Utah, Salt Lake City, UT, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0133158PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4508108PMC
May 2016

Processed Pseudogene Confounding Deletion/Duplication Assays for SMAD4.

J Mol Diagn 2015 Sep 10;17(5):576-82. Epub 2015 Jul 10.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah; Pathology Department, University of Utah, Salt Lake City, Utah.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmoldx.2015.05.005DOI Listing
September 2015

Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology.

J Mol Diagn 2015 Mar 12;17(2):107-17. Epub 2015 Feb 12.

Incidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah; Department of Molecular Genetics, ARUP Laboratories, Salt Lake City, Utah.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmoldx.2014.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707203PMC
March 2015

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.

Front Genet 2015 26;6. Epub 2015 Jan 26.

Department of Pathology, University of Utah Salt Lake City, UT, USA ; ARUP Institute for Clinical and Experimental Pathology Salt Lake City, UT, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2015.00001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306304PMC
February 2015

American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease.

Genet Med 2014 Dec 30;16(12):e2. Epub 2014 Oct 30.

Department of Pathology, University of Utah School of Medicine and ARUP Laboratories, Salt Lake City, Utah, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2014.146DOI Listing
December 2014

Noncontinuously binding loop-out primers for avoiding problematic DNA sequences in PCR and sanger sequencing.

J Mol Diagn 2014 Sep 9;16(5):477-480. Epub 2014 Jul 9.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah; Department of Pathology, University of Utah, Salt Lake City, Utah. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jmoldx.2014.04.005DOI Listing
September 2014

EIF2AK4 mutations in pulmonary capillary hemangiomatosis.

Chest 2014 Feb;145(2):231-236

Department of Medicine, School of Medicine, and Pulmonary Division, The University of Utah, Salt Lake City, UT; Department of Medicine, Intermountain Medical Center, Intermountain Healthcare, Murray, UT. Electronic address:

View Article

Download full-text PDF

Source
http://journal.publications.chestnet.org/data/Journals/CHEST
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S001236921534162
Publisher Site
http://dx.doi.org/10.1378/chest.13-2366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3921094PMC
February 2014

ACMG clinical laboratory standards for next-generation sequencing.

Genet Med 2013 Sep 25;15(9):733-47. Epub 2013 Jul 25.

Laboratory for Molecular Medicine, Partners Healthcare Center for Personalized Genetic Medicine, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
https://www.acmg.net/docs/ACMG_Lab_Standards_Next_Generation
Web Search
http://www.nature.com/doifinder/10.1038/gim.2013.92
Publisher Site
http://dx.doi.org/10.1038/gim.2013.92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4098820PMC
September 2013

Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period.

J Clin Bioinforma 2013 Jan 23;3(1). Epub 2013 Jan 23.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/2043-9113-3-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3563502PMC
January 2013

Capillary electrophoresis for the detection of Fragile X expanded alleles.

Methods Mol Biol 2013 ;919:275-85

Pathology Department, University of Utah School of Medicine, Salt Lake City, UT, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-62703-029-8_24DOI Listing
January 2013

Candidate locus analysis for PHACE syndrome.

Am J Med Genet A 2012 Jun 27;158A(6):1363-7. Epub 2012 Apr 27.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3356486PMC
June 2012

Mosaicism in Stickler syndrome.

Eur J Med Genet 2012 Jun 30;55(6-7):418-22. Epub 2012 Mar 30.

Dept. of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2012.03.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674818PMC
June 2012

Design and analytical validation of clinical DNA sequencing assays.

Arch Pathol Lab Med 2012 Jan;136(1):41-6

ARUP Laboratories, Institute of Clinical and Experimental Pathology, Salt Lake City, Utah, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5858/arpa.2010-0623-OADOI Listing
January 2012

RASA1 analysis: clinical and molecular findings in a series of consecutive cases.

Eur J Med Genet 2012 Feb 8;55(2):91-5. Epub 2011 Dec 8.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212110012
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2011.11.008DOI Listing
February 2012

Hemangioma is associated with atopic disease.

Otolaryngol Head Neck Surg 2012 Feb 26;146(2):206-9. Epub 2011 Oct 26.

Division of Otolaryngology, Department of Surgery, University of Utah, Salt Lake City, Utah, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0194599811427242DOI Listing
February 2012

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification.

BMC Med Genet 2011 Sep 21;12:119. Epub 2011 Sep 21.

Department of Pathology, University of Utah Health Science Center, Salt Lake City, UT 84108, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-12-119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196690PMC
September 2011

Familial clustering of hemangiomas.

Arch Otolaryngol Head Neck Surg 2011 Aug;137(8):757-60

Division of Otolaryngology, Department of Surgery, University of Utah, Salt Lake City, UT 84132, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/archoto.2011.91DOI Listing
August 2011

Verification of multiplex ligation-dependent probe amplification probes in the absence of positive samples.

Genet Test Mol Biomarkers 2011 Nov 20;15(11):793-9. Epub 2011 Jun 20.

ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA.

View Article

Download full-text PDF

Source
http://www.liebertpub.com/doi/10.1089/gtmb.2011.0051
Publisher Site
http://dx.doi.org/10.1089/gtmb.2011.0051DOI Listing
November 2011

Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis.

Genet Med 2011 Jul;13(7):607-16

HHT Center, University of Utah Medical Center, Salt Lake City, UT 84132-2140, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e3182136d32DOI Listing
July 2011

Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients.

J Med Genet 2011 May 4;48(5):358-60. Epub 2011 Mar 4.

Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmg.2010.088286DOI Listing
May 2011

A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation.

Am J Med Genet A 2010 Nov;152A(11):2838-44

Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33674
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33674DOI Listing
November 2010

p.R672C mutation of MYH3 gene in an Egyptian infant presented with Freeman-Sheldon syndrome.

Indian J Pediatr 2011 Jan 6;78(1):103-5. Epub 2010 Oct 6.

Mansoura University Children's Hospital, Mansoura, Egypt.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12098-010-0230-yDOI Listing
January 2011

Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes.

Hum Mutat 2010 May;31(5):588-93

ARUP Institute for Clinical and Experimental Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84108, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.21230DOI Listing
May 2010

Identifying common genetic variants by high-resolution melting.

Clin Chem 2007 Jul 24;53(7):1191-8. Epub 2007 May 24.

Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1373/clinchem.2007.085407DOI Listing
July 2007

A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7.

Am J Med Genet A 2006 Oct;140(20):2155-62

Associated Regional and University Pathologists (ARUP), Institute of Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31450DOI Listing
October 2006

Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations.

Am J Med Genet A 2006 Mar;140(5):463-70

Department of Pathology, University of Utah, Salt Lake City, Utah 84108, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31101DOI Listing
March 2006

Hereditary hemorrhagic telangiectasia.

Haematologica 2005 Jun;90(6):728-32

View Article

Download full-text PDF

Source
June 2005

Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype.

Am J Med Genet A 2004 Sep;130A(1):88-91

Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30200DOI Listing
September 2004

Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians.

Genet Med 2004 Jul-Aug;6(4):175-91

Department of Pathology, Associated Regional University Pathologists (ARUP), University of Utah, 50 N. Medical Drive, Salt Lake City, UT 84132, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.gim.0000132689.25644.7cDOI Listing
January 2005

Are fetal cells in maternal plasma really there? We think they are.

J Hum Genet 2003 8;48(12):665-667. Epub 2003 Nov 8.

Reprogenetics Research Inc., Chicago, Illinois, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/doifinder/10.1007/s10038-003-0084-5
Publisher Site
http://dx.doi.org/10.1007/s10038-003-0084-5DOI Listing
February 2004

Applying a test system for discriminating fetal from maternal cells.

Prenat Diagn 2003 Aug;23(8):619-24

Reprogenetics Research, Inc., Chicago, Illinois, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.656DOI Listing
August 2003

Sex ratio: a biological perspective of 'Sex and the City'.

Reprod Biomed Online 2002 Jul-Aug;5(1):43-6

Department of Obstetrics and Gynecology, Northwestern University, Chicago, IL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s1472-6483(10)61596-9DOI Listing
January 2003

To clone or not to clone: who will answer the question?

Differentiation 2002 Jan;69(4-5):182-3

DePaul University, 25 E. Jackson Blvd, Chicago, IL 60604, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1046/j.1432-0436.2002.690410.xDOI Listing
January 2002