Douglas R Stewart

Douglas R Stewart

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Douglas R Stewart

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Gynecologic and reproductive health in patients with pathogenic germline variants in DICER1.

Gynecol Oncol 2020 Jan 15. Epub 2020 Jan 15.

Office of the Clinical Director, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1016/j.ygyno.2019.12.037DOI Listing
January 2020

Stomaching multigene panel testing: what to do about CDH1?

J Natl Cancer Inst 2019 Dec 16. Epub 2019 Dec 16.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA.

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http://dx.doi.org/10.1093/jnci/djz230DOI Listing
December 2019

Dental abnormalities in individuals with pathogenic germline variation in DICER1.

Am J Med Genet A 2019 Sep 16;179(9):1820-1825. Epub 2019 Jul 16.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH Rockville, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.61292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692906PMC
September 2019

Response to Hannah-Shmouni and Stratakis.

Genet Med 2019 05 4;21(5):1256. Epub 2018 Oct 4.

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

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http://www.nature.com/articles/s41436-018-0313-0
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http://dx.doi.org/10.1038/s41436-018-0313-0DOI Listing
May 2019

The prevalence of germline DICER1 pathogenic variation in cancer populations.

Mol Genet Genomic Med 2019 03 22;7(3):e555. Epub 2019 Jan 22.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, Maryland.

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http://dx.doi.org/10.1002/mgg3.555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418698PMC
March 2019

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

Hum Mutat 2019 01 19;40(1):97-105. Epub 2018 Nov 19.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland.

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http://doi.wiley.com/10.1002/humu.23673
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http://dx.doi.org/10.1002/humu.23673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6296902PMC
January 2019

Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Genet Med 2018 07 26;20(7):671-682. Epub 2018 Apr 26.

Department of Neurology, New York University School of Medicine, New York, New York, USA.

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http://www.nature.com/articles/gim201828
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http://dx.doi.org/10.1038/gim.2018.28DOI Listing
July 2018

Type I Pleuropulmonary Blastoma versus Congenital Pulmonary Airway Malformation Type IV.

Neonatology 2017 26;111(1):76. Epub 2016 Aug 26.

Lauren V. Ackerman Laboratory of Surgical Pathology, Washington University Medical Center, St. Louis, Mo., USA.

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http://dx.doi.org/10.1159/000447992DOI Listing
January 2018

Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history.

Hum Mutat 2017 12 21;38(12):1723-1730. Epub 2017 Sep 21.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1002/humu.23320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858060PMC
December 2017

DICER1-related Sertoli-Leydig cell tumor and gynandroblastoma: Clinical and genetic findings from the International Ovarian and Testicular Stromal Tumor Registry.

Gynecol Oncol 2017 12 14;147(3):521-527. Epub 2017 Oct 14.

International Ovarian and Testicular Stromal Tumor Registry, Children's Minnesota, Minneapolis, MN, United States; Department of Pathology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, United States.

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http://dx.doi.org/10.1016/j.ygyno.2017.09.034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716477PMC
December 2017

The prevalence of DICER1 pathogenic variation in population databases.

Int J Cancer 2017 11 21;141(10):2030-2036. Epub 2017 Aug 21.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.

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http://dx.doi.org/10.1002/ijc.30907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5749397PMC
November 2017

Neurofibromatosis Type 1-Associated MPNST State of the Science: Outlining a Research Agenda for the Future.

J Natl Cancer Inst 2017 08;109(8)

Rare Tumor Initiative, Laboratory of Pathology, and Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD; Center for Cancer and Blood Disorders, Children's National Medical Center, Washington, DC; Department of Neurology, Johns Hopkins Hospital, Baltimore, MD; Neurofibromatosis Center, Department of Neurology Guy's Hospital London, London, UK; Department of Neurology, Washington University School of Medicine, St. Louis, MO; Department of Human Genetics, University of Leuven, Leuven, Belgium; Hunstman Cancer Institute, University of Utah, Salt Lake City, UT; Division of Experimental Hematology and Cancer Biology, Department of Pediatrics, Cincinnati Children's Hospital, University of Cincinnati, Cincinnati, OH; Bill and Melinda Gates Foundation, Seattle, WA; Children's Tumor Foundation, New York, NY; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.

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http://dx.doi.org/10.1093/jnci/djx124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057517PMC
August 2017

Mosaic chromosome Y loss and testicular germ cell tumor risk.

J Hum Genet 2017 Jun 9;62(6):637-640. Epub 2017 Mar 9.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.

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http://dx.doi.org/10.1038/jhg.2017.20DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5444985PMC
June 2017

No Association between Radiation Dose from Pediatric CT Scans and Risk of Subsequent Hodgkin Lymphoma.

Cancer Epidemiol Biomarkers Prev 2017 05 4;26(5):804-806. Epub 2017 Jan 4.

Institute of Health & Society, Newcastle University, Newcastle, United Kingdom.

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http://dx.doi.org/10.1158/1055-9965.EPI-16-1011DOI Listing
May 2017

Malignant Peripheral Nerve Sheath Tumors State of the Science: Leveraging Clinical and Biological Insights into Effective Therapies.

Sarcoma 2017 16;2017:7429697. Epub 2017 May 16.

National Cancer Institute, Pediatric Oncology Branch, 10 Center Drive, Room 1-3742, Building 10, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1155/2017/7429697DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448069PMC
May 2017

Macrocephaly associated with the DICER1 syndrome.

Genet Med 2017 02 21;19(2):244-248. Epub 2016 Jul 21.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2016.83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5253131PMC
February 2017

Research participant interest in primary, secondary, and incidental genomic findings.

Genet Med 2016 12 21;18(12):1218-1225. Epub 2016 Apr 21.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5074919PMC
http://dx.doi.org/10.1038/gim.2016.36DOI Listing
December 2016

Comment on: DICER1-Negative Pleuropulmonary Blastoma in a Patient With Selective IgA Deficiency.

Pediatr Blood Cancer 2016 10 30;63(10):1869-70. Epub 2016 May 30.

Division of Pathology, Center for Genetic Medicine Research, Children's National Health System, Washington, District of Columbia.

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http://dx.doi.org/10.1002/pbc.26075DOI Listing
October 2016

Rare inactivating PDE11A variants associated with testicular germ cell tumors.

Endocr Relat Cancer 2015 Dec;22(6):909-17

Clinical Genetics BranchDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USAProgram on Developmental Endocrinology and GeneticsEunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USACancer Genomics Research LaboratoryDivision of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, Maryland, USAPerelman School of MedicineAbramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania, USAGenetic Epidemiology BranchHormonal and Reproductive Epidemiology BranchDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, 9609 Medical Center Drive, Room 6E422, Rockville, Maryland 20850, USA

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http://dx.doi.org/10.1530/ERC-15-0034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812348PMC
December 2015

Cephalometry in adults and children with neurofibromatosis type 1: Implications for the pathogenesis of sphenoid wing dysplasia and the "NF1 facies".

Eur J Med Genet 2015 Nov 8;58(11):584-90. Epub 2015 Sep 8.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4659762PMC
November 2015

Prospectively Identified Incident Testicular Cancer Risk in a Familial Testicular Cancer Cohort.

Cancer Epidemiol Biomarkers Prev 2015 Oct 11;24(10):1614-21. Epub 2015 Aug 11.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, Maryland.

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http://dx.doi.org/10.1158/1055-9965.EPI-14-1240DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592450PMC
October 2015

Juvenile myelomonocytic leukemia due to a germline CBL Y371C mutation: 35-year follow-up of a large family.

Hum Genet 2015 Jul 5;134(7):775-87. Epub 2015 May 5.

Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch, National Cancer Institute, National Institutes of Health, 9609 Medical Center Drive Rm 6E450, Bethesda, MD, 20892, USA,

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http://dx.doi.org/10.1007/s00439-015-1550-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6941732PMC
July 2015

Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas.

Neuro Oncol 2015 Apr 1;17(4):566-73. Epub 2014 Dec 1.

Surgical Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland (R.D., K.L.M., R.A.V., P.C., X.W., A.R.-C., A.R.A.); Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland (A.P., D.R.S.); Office of the Clinical Director, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland (H.J.K.); Radiology and Imaging Sciences, The Clinical Center at the National Institutes of Health, National Institutes of Health, Bethesda, Maryland (J.A.B.); Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland (S.C.C.); Department of Neurosurgery, University of Virginia, CDW, Charlottesville, Virginia (A.R.A.).

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http://dx.doi.org/10.1093/neuonc/nou317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4483079PMC
April 2015

Genetic modifiers of neurofibromatosis type 1-associated café-au-lait macule count identified using multi-platform analysis.

PLoS Genet 2014 Oct 16;10(10):e1004575. Epub 2014 Oct 16.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1004575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199479PMC
October 2014

-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions.

Pathol Case Rev 2014 Mar;19(2):90-100

International Pleuropulmonary Blastoma Registry, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN ; International Ovarian and Testicular Stromal Tumor Registry, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN ; Division of Pathology, Children's National Medical Center and Center for Genetic Medicine Research, Children's Research Institute, Washington DC ; Department of Integrative Systems Biology, George Washington University School of Medicine & Health Sciences, Washington DC.

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http://dx.doi.org/10.1097/PCR.0000000000000027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209484PMC
March 2014

Mitotic recombination of chromosome arm 17q as a cause of loss of heterozygosity of NF1 in neurofibromatosis type 1-associated glomus tumors.

Genes Chromosomes Cancer 2012 May 17;51(5):429-37. Epub 2012 Jan 17.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD 20852, USA.

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http://dx.doi.org/10.1002/gcc.21928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3295917PMC
May 2012

Diagnosis, management, and complications of glomus tumours of the digits in neurofibromatosis type 1.

J Med Genet 2010 Aug 7;47(8):525-32. Epub 2010 Jun 7.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Building 49, Room 4A62, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1136/jmg.2009.073965DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3412429PMC
August 2010

Family-based analysis of candidate genes for polycystic ovary syndrome.

J Clin Endocrinol Metab 2010 May 3;95(5):2306-15. Epub 2010 Mar 3.

Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1210/jc.2009-2703DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2869537PMC
May 2010

Evidence of perturbations of cell cycle and DNA repair pathways as a consequence of human and murine NF1-haploinsufficiency.

BMC Genomics 2010 Mar 22;11:194. Epub 2010 Mar 22.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://bmcgenomics.biomedcentral.com/articles/10.1186/1471-2
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http://dx.doi.org/10.1186/1471-2164-11-194DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2858150PMC
March 2010

A quantitative assessment of the burden and distribution of Lisch nodules in adults with neurofibromatosis type 1.

Invest Ophthalmol Vis Sci 2009 Nov 10;50(11):5035-43. Epub 2009 Jun 10.

Penn State University College of Medicine, Hershey, Pennsylvania, USA.

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http://dx.doi.org/10.1167/iovs.09-3650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883270PMC
November 2009

The chromosome 9q subtelomere deletion syndrome.

Am J Med Genet C Semin Med Genet 2007 Nov;145C(4):383-92

National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Bldg. 49, Room 4A62, Bethesda, MD 20892, USA.

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http://doi.wiley.com/10.1002/ajmg.c.30148
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http://dx.doi.org/10.1002/ajmg.c.30148DOI Listing
November 2007

The genetics of Hirschsprung disease.

Gastroenterol Clin North Am 2003 Sep;32(3):819-37, vi

Children's Hospital of Philadelphia, 34th & Civic Center Boulevard, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/s0889-8553(03)00051-7DOI Listing
September 2003