Publications by authors named "Marjorie A Withers"

11Publications

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.

Am J Hum Genet 2014 Aug 24;95(2):143-61. Epub 2014 Jul 24.

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

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http://dx.doi.org/10.1016/j.ajhg.2014.06.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4129405PMC
August 2014

Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki-Lupski duplication syndrome.

Hum Mol Genet 2013 Feb 16;22(4):749-56. Epub 2012 Nov 16.

State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai 200433, China.

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http://dx.doi.org/10.1093/hmg/dds482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3554201PMC
February 2013

Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.

PLoS Genet 2011 Aug 25;7(8):e1002247. Epub 2011 Aug 25.

Human DNA Damage Response Disorders Group, Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1002247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3161930PMC
August 2011

Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates.

Am J Hum Genet 2004 Jul 13;75(1):75-81. Epub 2004 May 13.

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

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http://dx.doi.org/10.1086/422016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182010PMC
July 2004

Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.

Am J Hum Genet 2003 Dec 24;73(6):1302-15. Epub 2003 Nov 24.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180396PMC
http://dx.doi.org/10.1086/379979DOI Listing
December 2003