Publications by authors named "Meral Gunay-Aygun"

65Publications

Prospective evaluation of kidney and liver disease in autosomal recessive polycystic kidney disease-congenital hepatic fibrosis.

Mol Genet Metab 2020 Sep 3. Epub 2020 Sep 3.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Johns Hopkins University School of Medicine, McKusick-Nathans Department of Genetic Medicine, Department of Pediatrics, Baltimore, MD 21287, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.08.006DOI Listing
September 2020

Pitfalls in the Diagnosis of Hereditary Fructose Intolerance.

Pediatrics 2020 08;146(2)

Department of Genetic Medicine, School of Medicine, Johns Hopkins University, Baltimore, Maryland; and.

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http://dx.doi.org/10.1542/peds.2019-3324DOI Listing
August 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nat Commun 2020 01 30;11(1):595. Epub 2020 Jan 30.

Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.

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http://dx.doi.org/10.1038/s41467-020-14360-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6992768PMC
January 2020

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome.

Proc Natl Acad Sci U S A 2020 01 26;117(2):1113-1118. Epub 2019 Dec 26.

Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle upon Tyne NE1 3BZ, United Kingdom;

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http://dx.doi.org/10.1073/pnas.1912602117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6969532PMC
January 2020

Clinical characteristics of individual organ system disease in non-motile ciliopathies.

Transl Sci Rare Dis 2019 Jul 4;4(1-2):1-23. Epub 2019 Jul 4.

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

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http://dx.doi.org/10.3233/TRD-190033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6864414PMC
July 2019

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts.

Sci Rep 2019 07 25;9(1):10828. Epub 2019 Jul 25.

Institute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, United Kingdom.

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http://dx.doi.org/10.1038/s41598-019-47243-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658666PMC
July 2019

Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.

Am J Med Genet A 2019 03 23;179(3):410-416. Epub 2019 Jan 23.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.61037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038632PMC
March 2019

Alström syndrome: Renal findings in correlation with obesity, insulin resistance, dyslipidemia and cardiomyopathy in 38 patients prospectively evaluated at the NIH clinical center.

Mol Genet Metab 2018 09 24;125(1-2):181-191. Epub 2018 Jul 24.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; Johns Hopkins University School of Medicine, Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.07.010DOI Listing
September 2018

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.

Ophthalmology 2018 12 25;125(12):1937-1952. Epub 2018 Jul 25.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland; Johns Hopkins University School of Medicine, Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1016/j.ophtha.2018.05.026DOI Listing
December 2018

Cover Image, Volume 173A, Number 12, December 2017.

Am J Med Genet A 2017 Dec;173(12)

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38548DOI Listing
December 2017

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Am J Med Genet A 2017 Dec 20;173(12):3231-3237. Epub 2017 Oct 20.

NIH Undiagnosed Diseases Program, Common Fund, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.38376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5685896PMC
December 2017

Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients.

Mol Genet Metab 2017 08 30;121(4):336-343. Epub 2017 May 30.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA; Johns Hopkins University School of Medicine, Department of Pediatrics and McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192173009
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http://dx.doi.org/10.1016/j.ymgme.2017.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5555226PMC
August 2017

Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients.

Am J Med Genet A 2017 Aug 1;173(8):2210-2218. Epub 2017 Jun 1.

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.a.38316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526054PMC
August 2017

Abnormal glycosylation in Joubert syndrome type 10.

Cilia 2017 23;6. Epub 2017 Mar 23.

NIH Undiagnosed Disease Program, Common Fund, Office of the Director, and National Human Genome Research Institute, National Institutes of Health, Bethesda, MD USA.

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http://dx.doi.org/10.1186/s13630-017-0048-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364566PMC
March 2017

Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

Mol Genet Metab 2017 03 18;120(3):288-294. Epub 2016 Dec 18.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States; NIH Undiagnosed Diseases Program, NIH Common Fund, National Institutes of Health, Bethesda, MD, United States; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.1016/j.ymgme.2016.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346474PMC
March 2017

Respiratory manifestations in 38 patients with Alström syndrome.

Pediatr Pulmonol 2017 04 28;52(4):487-493. Epub 2016 Dec 28.

National Human Genome Research Institute, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ppul.23607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7171443PMC
April 2017

TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.

Hum Mutat 2016 11 21;37(11):1144-1148. Epub 2016 Aug 21.

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

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http://dx.doi.org/10.1002/humu.23054DOI Listing
November 2016

The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Am J Med Genet A 2016 06 21;170(6):1600-2. Epub 2016 Mar 21.

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37620DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702463PMC
June 2016

Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.

J Med Genet 2015 Dec 18;52(12):830-9. Epub 2015 Sep 18.

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

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http://dx.doi.org/10.1136/jmedgenet-2015-103316DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5517294PMC
December 2015

An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis.

Am J Med Genet A 2015 Jul 30;167(7):1644-9. Epub 2015 Mar 30.

Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.37066DOI Listing
July 2015

Pregnancy in autosomal recessive polycystic kidney disease.

Arch Gynecol Obstet 2015 Mar 12;291(3):705-8. Epub 2014 Sep 12.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, Building 10, Room 10C103CA, Bethesda, Maryland, 20892-1851, USA.

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http://dx.doi.org/10.1007/s00404-014-3445-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4320663PMC
March 2015

Reply: To PMID 23041322.

Gastroenterology 2013 May 23;144(5):1156-7. Epub 2013 Mar 23.

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http://dx.doi.org/10.1053/j.gastro.2013.03.041DOI Listing
May 2013

A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.

Am J Med Genet A 2012 Jun 14;158A(6):1414-21. Epub 2012 May 14.

McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35363
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http://dx.doi.org/10.1002/ajmg.a.35363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5101836PMC
June 2012

Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease.

Mol Genet Metab 2011 Dec 8;104(4):677-81. Epub 2011 Sep 8.

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

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http://dx.doi.org/10.1016/j.ymgme.2011.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3224207PMC
December 2011

Spectrum of clinical diseases caused by disorders of primary cilia.

Proc Am Thorac Soc 2011 Sep;8(5):444-50

Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45244, USA.

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http://pats.atsjournals.org/cgi/doi/10.1513/pats.201103-025S
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http://dx.doi.org/10.1513/pats.201103-025SDDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3209578PMC
September 2011

Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease.

J Pediatr Gastroenterol Nutr 2012 Jan;54(1):83-9

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1097/MPG.0b013e318228330cDOI Listing
January 2012

The York Platelet Syndrome: a third case.

Platelets 2011 30;22(2):117-34. Epub 2010 Nov 30.

Department of Laboratory Medicine, Pathology and Pediatrics, University of Minnesota School of Medicine, Minneapolis, MN, USA.

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http://dx.doi.org/10.3109/09537104.2010.524323DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501964PMC
May 2011

Liver and kidney disease in ciliopathies.

Am J Med Genet C Semin Med Genet 2009 Nov;151C(4):296-306

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Dr., Bldg 10, Rm. 10C103, Bethesda, MD 20892-1851, USA.

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http://dx.doi.org/10.1002/ajmg.c.30225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2919058PMC
November 2009

Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF).

Pediatr Radiol 2009 Feb 17;39(2):100-11. Epub 2008 Dec 17.

Molecular Imaging Program, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/s00247-008-1064-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2918426PMC
February 2009

Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.

Annu Rev Genomics Hum Genet 2008 ;9:359-86

Cell Biology of Metabolic Disorders Unit, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://www.annualreviews.org/doi/10.1146/annurev.genom.9.081
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http://dx.doi.org/10.1146/annurev.genom.9.081307.164303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2755194PMC
December 2008

Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.

Mol Genet Metab 2005 Jun 25;85(2):125-32. Epub 2005 Mar 25.

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920500074
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http://dx.doi.org/10.1016/j.ymgme.2005.02.011DOI Listing
June 2005

3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features.

Mol Genet Metab 2005 Jan;84(1):1-3

Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.ymgme.2004.12.003DOI Listing
January 2005

Molecular defects that affect platelet dense granules.

Semin Thromb Hemost 2004 Oct;30(5):537-47

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

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http://dx.doi.org/10.1055/s-2004-835674DOI Listing
October 2004