John E Niederhuber

John E Niederhuber

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John E Niederhuber

John E Niederhuber

Publications by authors named "John E Niederhuber"

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61Publications

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EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome.

Neuropediatrics 2019 Aug 21;50(4):257-261. Epub 2019 Jun 21.

Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, United States.

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http://dx.doi.org/10.1055/s-0039-1692129DOI Listing
August 2019

Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error.

J Comput Biol 2019 May 3;26(5):405-419. Epub 2019 Apr 3.

1 Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia.

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http://dx.doi.org/10.1089/cmb.2018.0253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6533806PMC
May 2019

Endosomal trafficking defects in patient cells with biallelic variants.

Genes Dis 2019 Mar 7;6(1):56-67. Epub 2019 Jan 7.

Inova Translational Medicine Institute, Inova Health System, Fairfax, VA, United States.

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http://dx.doi.org/10.1016/j.gendis.2018.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411657PMC
March 2019

Prenatal exposure to PM and birth weight: A pooled analysis from three North American longitudinal pregnancy cohort studies.

Environ Int 2017 10 22;107:173-180. Epub 2017 Jul 22.

Department of Environmental Medicine and Public Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Kravis Children's Hospital, Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01604120173012
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http://dx.doi.org/10.1016/j.envint.2017.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5568041PMC
October 2017

Collection of non-meconium stool on fecal occult blood cards is an effective method for fecal microbiota studies in infants.

Microbiome 2017 09 5;5(1):114. Epub 2017 Sep 5.

Inova Translational Medicine Institute (ITMI), 3300 Gallows Road, Claude Moore Bldg, 2nd Floor, Falls Church, VA, 22042, USA.

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http://dx.doi.org/10.1186/s40168-017-0333-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5583988PMC
September 2017

A Child's HLA-DRB1 genotype increases maternal risk of systemic lupus erythematosus.

J Autoimmun 2016 11 4;74:201-207. Epub 2016 Jul 4.

Genetic Epidemiology and Genomics Lab, Division of Epidemiology, School of Public Health, University of California Berkeley, 324 Stanley Hall, Berkeley, CA 94720-3220, USA; California Institute for Quantitative Biosciences (QB3), University of California Berkeley, 174 Stanley Hall, Berkeley, CA 94720-3220, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5079818PMC
http://dx.doi.org/10.1016/j.jaut.2016.06.017DOI Listing
November 2016

Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome.

Brain 2016 09 24;139(Pt 9):e52. Epub 2016 Jun 24.

1 Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA 4 Department of Pediatrics, Virginia Commonwealth University School of Medicine, 1201 E Marshall St, Richmond, Virginia 23298, USA 6 Inova Children's Hospital, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.

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http://dx.doi.org/10.1093/brain/aww135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841196PMC
September 2016

Parent-of-origin-specific signatures of de novo mutations.

Nat Genet 2016 08 20;48(8):935-9. Epub 2016 Jun 20.

Inova Translational Medicine Institute (ITMI), Inova Health Systems, Falls Church, Virginia, USA.

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http://dx.doi.org/10.1038/ng.3597DOI Listing
August 2016

Whole-Genome Sequencing of a Healthy Aging Cohort.

Cell 2016 May 21;165(4):1002-11. Epub 2016 Apr 21.

The Scripps Translational Science Institute, Scripps Health, and The Scripps Research Institute, La Jolla, CA 92037, USA; Cypher Genomics, Inc., San Diego, CA 92121, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2016.03.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4860090PMC
May 2016

The Microbiome in Necrotizing Enterocolitis: A Case Report in Twins and Minireview.

Clin Ther 2016 04 9;38(4):747-53. Epub 2016 Mar 9.

Inova Translational Medicine Institute, Fairfax, Virginia; Johns Hopkins School of Medicine, Baltimore, Maryland.

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http://dx.doi.org/10.1016/j.clinthera.2016.02.014DOI Listing
April 2016

Surgery: Limitations of prospective surgical oncology trials - a US view.

Nat Rev Clin Oncol 2016 Jan 24;13(1):6-8. Epub 2015 Nov 24.

Inova Fairfax Hopsital, Cancer Center, 3300 Gallows Road, Falls Church, Virginia 22042, USA.

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http://dx.doi.org/10.1038/nrclinonc.2015.212DOI Listing
January 2016

New observations on maternal age effect on germline de novo mutations.

Nat Commun 2016 Jan 19;7:10486. Epub 2016 Jan 19.

Inova Translational Medicine Institute, Inova Health System, 3300 Gallows Road, Falls Church, Virginia 22042, USA.

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http://dx.doi.org/10.1038/ncomms10486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4735694PMC
January 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

Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.

Am J Med Genet A 2015 May 25;167A(5):1111-6. Epub 2015 Feb 25.

Inova Translational Medicine Institute, Inova Health System, Falls Church, Virginia; Department of Pediatrics, Inova Health System, Falls Church, Virginia; Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.36883DOI Listing
May 2015

Diagnosis and treatment of cancer using genomics.

BMJ 2015 May 28;350:h1832. Epub 2015 May 28.

Inova Translational Medicine Institute, Inova Fairfax Medical Center, Falls Church, VA 22042, USA Johns Hopkins University, School of Medicine, Baltimore, MD, USA.

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http://www.bmj.com/cgi/doi/10.1136/bmj.h1832
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http://dx.doi.org/10.1136/bmj.h1832DOI Listing
May 2015

Mutations in NOTCH1 cause Adams-Oliver syndrome.

Am J Hum Genet 2014 Sep 14;95(3):275-84. Epub 2014 Aug 14.

Department of Medical Genetics and Child and Family Research Institute, University of British Columbia, Vancouver, BC V6H 3N1, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157158PMC
September 2014

A small molecule (pluripotin) as a tool for studying cancer stem cell biology: proof of concept.

PLoS One 2013 21;8(2):e57099. Epub 2013 Feb 21.

Screening Technologies Branch, Developmental Therapeutics Program, Division of Cancer Treatment and Diagnosis, National Cancer Institute at Frederick, Frederick, MD, USA.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0057099PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578829PMC
August 2013

Comparative effectiveness research: relative and efficient outcomes in surgery patients.

Ann Surg 2011 Oct;254(4):550-7

Department of Surgery, UAB Comprehensive Cancer Center, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

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http://dx.doi.org/10.1097/SLA.0b013e3182314074DOI Listing
October 2011

Translating discovery to patient care.

JAMA 2010 Mar;303(11):1088-9

National Cancer Institute, 31 Center Dr, Room 11A48, Bethesda, MD 20892, USA.

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http://jama.jamanetwork.com/article.aspx?doi=10.1001/jama.20
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http://dx.doi.org/10.1001/jama.2010.281DOI Listing
March 2010

Facilitating patient-centered cancer research and a new era of drug discovery.

Oncologist 2009 Apr 13;14(4):311-2. Epub 2009 Apr 13.

Office of Communications, National Cancer Institute, NIH, Bethesda, MD 20892-2580, USA.

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http://dx.doi.org/10.1634/theoncologist.2009-0051DOI Listing
April 2009

Five strategies for accelerating the war on cancer in an era of budget deficits.

Oncologist 2009 Feb 15;14(2):110-6. Epub 2009 Jan 15.

National Cancer Institute, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1634/theoncologist.2008-0270DOI Listing
February 2009

An old problem that may be getting worse.

Ann Surg 2008 Feb;247(2):222-3

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http://dx.doi.org/10.1097/SLA.0b013e318163ff78DOI Listing
February 2008

Keeping pace.

Oncologist 2008 Jan;13(1):4-5

Cell and Cancer Biology Branch, National Cancer Institute, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1634/theoncologist.2007-0213DOI Listing
January 2008

Developmental biology, self-renewal, and cancer.

Lancet Oncol 2007 Jun;8(6):456-7

National Cancer Institute, Bethesda, MD, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S147020450770150
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http://dx.doi.org/10.1016/S1470-2045(07)70150-XDOI Listing
June 2007

A look inside the National Cancer Institute budget process: implications for 2007 and beyond.

Cancer Res 2007 Feb;67(3):856-62

National Cancer Institute, National Institutes of Health, Building 31, 31 Center Drive, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1158/0008-5472.CAN-06-4472DOI Listing
February 2007

Investiture of John E. Niederhuber, M.D., director of National Cancer Institute.

Oncologist 2007 Feb;12(2):136-41

Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1634/theoncologist.12-2-136DOI Listing
February 2007

Treatment of metastatic disease in patients with neuroendocrine tumors.

Surg Oncol Clin N Am 2006 Jul;15(3):511-33, viii

National Cancer Institute, 31 Center Drive, Room 11A48, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.soc.2006.05.004DOI Listing
July 2006

Honoring Blake Cady, MD: Society of Surgical Oncology President, 1988-1989.

Ann Surg Oncol 2004 Sep;11(9):807-9

Clinical Cancer Center, University of Wisconsin Comprehensive Cancer Center, 600 Highland Avenue, Box 7375 CSC, Madison, WI 53792, USA.

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http://dx.doi.org/10.1245/ASO.2004.06.930DOI Listing
September 2004

Models of breast cancer growth and investigations of adjuvant surgical oophorectomy.

Ann Surg Oncol 2004 Sep;11(9):818-28

Department of Medicine, University of Wisconsin School of Medicine, 610 Walnut St., 256 WARF Bldg., Madison, WI 53726-2397, USA.

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http://dx.doi.org/10.1245/ASO.2004.02.019DOI Listing
September 2004

Combined serous microcystic adenoma and well-differentiated endocrine pancreatic neoplasm: a case report and review of the literature.

Arch Pathol Lab Med 2003 Oct;127(10):1369-72

Department of Pathology and Laboratory Medicine, University of Wisconsin, Madison 53792, USA.

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http://dx.doi.org/10.1043/1543-2165(2003)127<1369:CSMAAW>2.0.CO;2DOI Listing
October 2003

Annals of surgical oncology impact factor/rating has dramatically increased.

Ann Surg Oncol 2003 Jan-Feb;10(1):1-3

Society of Surgical Oncology, Editorial Office, Alexandria, Virginia.

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http://dx.doi.org/10.1245/aso.2003.11.004DOI Listing
April 2003

The things that matter most.

Ann Surg Oncol 2002 Oct;9(8):709-16

University of Wisconsin Comprehensive Cancer Center, Clinical Cancer Center, Madison 53792, USA.

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http://dx.doi.org/10.1007/bf02574490DOI Listing
October 2002

Seeking calmer waters in a sea of controversy.

Oncologist 2002 ;7(3):172-3

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http://dx.doi.org/10.1634/theoncologist.7-3-172DOI Listing
July 2002

Should suspected early gallbladder cancer be treated laparoscopically?

J Gastrointest Surg 2002 Jan-Feb;6(1):50-6; discussion 56-7

Department of Surgery, Division of General Surgery, University of Wisconsin-Madison, Madison, WI 53792, USA.

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June 2002

Cryoablation and liver resection for noncolorectal liver metastases.

Am J Surg 2002 Apr;183(4):384-9

University of Wisconsin-Madison, Department of Surgery Division of General Surgery, H4/710 Clinical Science Center, 600 Highland Avenue, Madison, WI 53792, USA.

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http://dx.doi.org/10.1016/s0002-9610(02)00806-1DOI Listing
April 2002