Publications by authors named "Marjorie Withers"

30Publications

Mutations in ANKLE2, a ZIKA Virus Target, Disrupt an Asymmetric Cell Division Pathway in Drosophila Neuroblasts to Cause Microcephaly.

Dev Cell 2019 12 14;51(6):713-729.e6. Epub 2019 Nov 14.

Howard Hughes Medical Institute, BCM, Houston, TX 77030, USA; Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; MD/PhD Medical Scientist Training Program and MHG Graduate program, BCM, Houston, TX 77030, USA; Program in Developmental Biology, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.devcel.2019.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6917859PMC
December 2019

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.

Cell 2019 03 28;176(6):1310-1324.e10. Epub 2019 Feb 28.

Department of Molecular and Human Genetics, BCM, Houston, TX 77030, USA; Human Genome Sequencing Center, BCM, Houston, TX 77030, USA; Department of Pediatrics, BCM, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Dan L. Duncan Comprehensive Cancer Center, BCM, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2019.01.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438178PMC
March 2019

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

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.

J Clin Endocrinol Metab 2015 Jan;100(1):E140-7

Department of Molecular and Human Genetics (E.K., D.P., W.-L.C., Y.B., T.G., M.W., M.M.A., R.A.G., J.R.L.), Baylor College of Medicine, Houston, Texas 77030; Department of Radiology (R.B.), Duzce University Medical School, 81620 Duzce, Turkey; Department of Medical Biology (K.O.Y.), Kahramanmaras Sutcu Imam University, Medical School, 46100 Kahramanmaras, Turkey; Department of Pediatric Endocrinology (I.A., S.B.), Duzce University Medical School, 81620 Duzce, Turkey; Center for Human Genetic Research (S.E.), Massachussetts General Hospital, Boston, Massachussetts 02114; Department of Radiology (A.B.), Duzce Ataturk Community Hospital, 81620 Duzce, Turkey; Department of Medical Biology and Genetics (E.Y.), Duzce University Institute of Health Science, 81620 Duzce, Turkey; Human Genome Sequencing Center (S.N.J., D.M.M., R.A.G.), Baylor College of Medicine, Houston Texas 77030; Department of Pediatrics (J.R.L.), Baylor College of Medicine, Houston, Texas 77030; and Texas Children's Hospital (J.R.L.), Houston, Texas 77030.

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http://dx.doi.org/10.1210/jc.2014-1984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4283017PMC
January 2015

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

Serial segmental duplications during primate evolution result in complex human genome architecture.

Genome Res 2004 Nov;14(11):2209-20

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

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http://dx.doi.org/10.1101/gr.2746604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC525679PMC
November 2004

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

Genome architecture catalyzes nonrecurrent chromosomal rearrangements.

Am J Hum Genet 2003 May 20;72(5):1101-16. Epub 2003 Mar 20.

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/PMC1180264PMC
http://dx.doi.org/10.1086/374385DOI Listing
May 2003