Roxanne Fischer

Roxanne Fischer

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Roxanne Fischer

Roxanne Fischer

Publications by authors named "Roxanne Fischer"

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19Publications

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Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

Hum Genet 2017 04 17;136(4):409-420. Epub 2017 Feb 17.

Office of Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive MSC 1851, Building 10, 10-C103, Bethesda, MD, 20892, USA.

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http://dx.doi.org/10.1007/s00439-017-1767-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5848494PMC
April 2017

CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.

Am J Med Genet A 2017 Mar 4;173(3):661-666. Epub 2017 Jan 4.

Section of Human Biochemical Genetics, 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.38005DOI Listing
March 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

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

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

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

Hum Mutat 2009 Dec;30(12):1611-9

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1002/humu.21120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2830005PMC
December 2009

Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.

Hum Genet 2006 Apr 31;119(3):284-94. Epub 2006 Jan 31.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, NIH, DHHS, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1007/s00439-006-0138-9DOI Listing
April 2006

HLA B44 is associated with decreased severity of autoimmune lymphoproliferative syndrome in patients with CD95 defects (ALPS type Ia).

Clin Immunol 2006 Jan 27;118(1):59-65. Epub 2005 Oct 27.

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Drive, Building 49, Room 4A14, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.clim.2005.09.006DOI Listing
January 2006