John Pappas

John Pappas

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John Pappas

John Pappas

Publications by authors named "John Pappas"

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Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.

Am J Med Genet A 2019 Oct 9;179(10):2144-2151. Epub 2019 Jul 9.

Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.61284DOI Listing
October 2019

Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia.

Case Rep Pediatr 2019 27;2019:4178251. Epub 2019 May 27.

Division of Neonatology, Department of Pediatrics and Microbiology, New York University School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.1155/2019/4178251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556792PMC
May 2019

Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent.

Am J Med Genet A 2018 12 22;176(12):2907-2910. Epub 2018 Oct 22.

Clinical Genetic Services, NYU Langone Health, New York, New York.

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http://doi.wiley.com/10.1002/ajmg.a.40667
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http://dx.doi.org/10.1002/ajmg.a.40667DOI Listing
December 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.

Am J Med Genet A 2017 Dec 22;173(12):3158-3164. Epub 2017 Sep 22.

Department of Pediatrics, Division of Clinical Genetics, Columbia University Medical Center (CUMC), New York, New York.

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http://dx.doi.org/10.1002/ajmg.a.38460DOI Listing
December 2017

Kufor-Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese-American Brothers.

Mov Disord Clin Pract 2018 Jan-Feb;5(1):92-95. Epub 2017 Dec 21.

Department of Neurology Weill Cornell Medicine New York-Presbyterian Hospital New York New York USA.

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http://dx.doi.org/10.1002/mdc3.12567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336435PMC
December 2017

Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor.

Case Rep Endocrinol 2017 23;2017:3905905. Epub 2017 May 23.

Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, New York University School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.1155/2017/3905905DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5460444PMC
May 2017

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.

Am J Hum Genet 2017 Jan 22;100(1):128-137. Epub 2016 Dec 22.

Undiagnosed Diseases Program, NIH Common Fund, Office of the Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223093PMC
January 2017

Potocki-Lupski syndrome in conjunction with bilateral clubfoot.

J Pediatr Orthop B 2015 Jul;24(4):373-6

aDepartment of Orthopaedic Surgery, NYU Hospital for Joint Diseases bDepartment of Pediatric Orthopaedic Surgery, Center for Children, NYU Hospital for Joint Diseases cNYU Department of Pediatrics, Human Genetics Division.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/BPB.0000000000000131DOI Listing
July 2015

The clinical course of an overgrowth syndrome, from diagnosis in infancy through adulthood: the case of Beckwith-Wiedemann syndrome.

Authors:
John G Pappas

Curr Probl Pediatr Adolesc Health Care 2015 Apr 7;45(4):112-7. Epub 2015 Apr 7.

Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY.

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https://linkinghub.elsevier.com/retrieve/pii/S15385442150002
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http://dx.doi.org/10.1016/j.cppeds.2015.03.001DOI Listing
April 2015

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoya.

Pediatrics 2013 Jun 27;131(6):e1996-2001. Epub 2013 May 27.

Department of Pediatrics, New York University School of Medicine, New York, NY, USA.

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http://dx.doi.org/10.1542/peds.2012-0749DOI Listing
June 2013

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.

Am J Med Genet A 2013 Apr 12;161A(4):822-8. Epub 2013 Mar 12.

Department of Cytogenetics, Laboratory Corporation of America, Center for Molecular Biology and Pathology, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1002/ajmg.a.35699DOI Listing
April 2013

Well-differentiated pancreatic neuroendocrine carcinoma in tuberous sclerosis--case report and review of the literature.

Am J Surg Pathol 2012 Jan;36(1):149-53

Department of Pathology, New York University Langone Medical Center, New York, NY, USA.

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http://dx.doi.org/10.1097/PAS.0b013e31823d0560DOI Listing
January 2012

Congenital absence of the superior oblique tendon in Noonan-neurofibromatosis syndrome.

J AAPOS 2011 Dec;15(6):593-4

Department of Ophthalmology, North Shore-Long Island Jewish Health System, Great Neck, New York, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10918531110052
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http://dx.doi.org/10.1016/j.jaapos.2011.07.015DOI Listing
December 2011

UPD detection using homozygosity profiling with a SNP genotyping microarray.

Am J Med Genet A 2011 Apr 15;155A(4):757-68. Epub 2011 Mar 15.

Laboratory Corporation of Cytogenetics Triangle Park, North Carolina, USA.

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http://dx.doi.org/10.1002/ajmg.a.33939DOI Listing
April 2011

Aprepitant vs. multimodal prophylaxis in the prevention of nausea and vomiting following extended-release epidural morphine.

Pain Pract 2010 May-Jun;10(3):245-8. Epub 2010 Mar 2.

Department of Anesthesiology, William Beaumont Hospital-Troy, Troy, Michigan 48085, USA.

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http://dx.doi.org/10.1111/j.1533-2500.2010.00364.xDOI Listing
September 2010

Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia.

J Clin Endocrinol Metab 2009 Dec 22;94(12):5028-33. Epub 2009 Oct 22.

Department of Pediatric Endocrinology, New York University Medical Center, 550 First Avenue, New York, New York 10016, USA.

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http://dx.doi.org/10.1210/jc.2009-0679DOI Listing
December 2009

Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization.

J Ultrasound Med 2009 Dec;28(12):1735-42

Department of Obstetrics and Gynecology, New York University School of Medicine, 550 First Ave, NBV-9N26, New York, NY 10016, USA.

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http://dx.doi.org/10.7863/jum.2009.28.12.1735DOI Listing
December 2009

Successful pregnancy outcome in Ehlers-Danlos syndrome, vascular type.

J Matern Fetal Neonatal Med 2009 Oct;22(10):924-7

Department of OB/GYN, Johns Hopkins, 600 N Wolfe Street, Phipps Bldg, Baltimore, Maryland 21287, USA.

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http://dx.doi.org/10.1080/14767050902874071DOI Listing
October 2009

A single-step enrichment of Th2 lymphocytes using CCR4 microbeads.

Immunol Lett 2006 Jan 24;102(1):110-4. Epub 2005 Aug 24.

Department of Immunotherapeutics, Purdue Pharma L.P., Cranbury, NJ 08512, USA.

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http://dx.doi.org/10.1016/j.imlet.2005.07.011DOI Listing
January 2006

Multifocal renal oncocytoma in a patient with Von Hippel-Lindau mutation.

Urology 2005 Dec;66(6):1320

Department of Urology, New York University School of Medicine/Bellevue Hospital, New York, New York, USA.

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http://dx.doi.org/10.1016/j.urology.2005.06.122DOI Listing
December 2005

Identification of HLA-DQalpha and -DRbeta residues associated with susceptibility and protection to epithelial ovarian cancer.

Hum Immunol 2005 May 3;66(5):554-62. Epub 2005 Mar 3.

Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.humimm.2005.01.019DOI Listing
May 2005

Mobile technology in a clinical setting.

AMIA Annu Symp Proc 2003 :863

Application Development, Partners HealthCare System, Boston, MA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1479959PMC
December 2004

A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.

Am J Med Genet A 2004 Oct;130A(2):160-4

Collagen Research Unit, Biocenter and Department of Medical Biochemistry and Molecular Biology, University of Oulu, Finland.

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http://dx.doi.org/10.1002/ajmg.a.30111DOI Listing
October 2004

Immune responses to human tumors: development of tumor vaccines.

Anticancer Res 2003 May-Jun;23(3A):1969-96

Department of Microbiology and Immunology, School of Medicine, Center for Biotechnology, College of Science and Technology, Temple University, Philadelphia, PA, USA.

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August 2003

Gadolinium, carbon dioxide, and iodinated contrast material for planning inferior vena cava filter placement: a prospective trial.

J Vasc Interv Radiol 2003 Aug;14(8):1017-22

Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 South Kingshighway Boulevard, St. Louis, Missouri 63110, USA.

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http://dx.doi.org/10.1097/01.rvi.0000082865.05622.adDOI Listing
August 2003

Echogenic polymer coating: does it improve needle visualization in sonographically guided biopsy?

AJR Am J Roentgenol 2002 May;178(5):1188-90

Department of Radiology, Duke University Medical Center, Box 3808, Durham, NC 27710, USA.

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http://dx.doi.org/10.2214/ajr.178.5.1781188DOI Listing
May 2002

The angiographic string sign.

Authors:
John N Pappas

Radiology 2002 Jan;222(1):237-8

Department of Radiology, Duke University Medical Center, Durham, NC.

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http://pubs.rsna.org/doi/10.1148/radiol.2221000366
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http://dx.doi.org/10.1148/radiol.2221000366DOI Listing
January 2002