Joanna Wiszniewska

Joanna Wiszniewska

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Joanna Wiszniewska

Joanna Wiszniewska

Publications by authors named "Joanna Wiszniewska"

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24Publications

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An Organismal CNV Mutator Phenotype Restricted to Early Human Development.

Cell 2017 02;168(5):830-842.e7

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2017.01.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5407901PMC
February 2017

Myxoid Dermatofibrosarcoma Protuberans of the Vulva: Case Report of a Rare Variant in an Unusual Location, With Unusual Morphologic and Immunohistochemical Features.

Am J Dermatopathol 2016 Mar;38(3):226-30

*Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX; and †Texas Children's Hospital, Houston, TX.

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http://dx.doi.org/10.1097/DAD.0000000000000421DOI Listing
March 2016

De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.

Am J Med Genet A 2012 Oct 17;158A(10):2557-63. Epub 2012 Aug 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.35549DOI Listing
October 2012

WDR62 missense mutation in a consanguineous family with primary microcephaly.

Am J Med Genet A 2012 Mar 3;158A(3):622-5. Epub 2012 Feb 3.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.34417DOI Listing
March 2012

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.

J Hum Genet 2011 Dec 20;56(12):834-9. Epub 2011 Oct 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1038/jhg.2011.112DOI Listing
December 2011

Copy number and SNP arrays in clinical diagnostics.

Annu Rev Genomics Hum Genet 2011 ;12:25-51

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://www.annualreviews.org/doi/10.1146/annurev-genom-09201
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http://dx.doi.org/10.1146/annurev-genom-092010-110715DOI Listing
October 2011

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.

Mol Genet Metab 2011 Jul 11;103(3):262-7. Epub 2011 Mar 11.

Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.03.006DOI Listing
July 2011

Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome.

Am J Med Genet A 2009 Dec;149A(12):2723-30

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.33112DOI Listing
December 2009

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome.

Am J Med Genet A 2008 Apr;146A(8):1042-8

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.32215DOI Listing
April 2008

[The principles of molecular diagnosis of recessive forms of prelingual non-syndromic hearing loss].

Med Wieku Rozwoj 2002 Oct-Dec;6(4):309-18

Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Kasprzaka 17A, 01-211 Warszawa, Poland.

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August 2003