Jacqueline K Rainger

Jacqueline K Rainger

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Jacqueline K Rainger

Jacqueline K Rainger

Publications by authors named "Jacqueline K Rainger"

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11Publications

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Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 05;49(6):969

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http://dx.doi.org/10.1038/ng0617-969cDOI Listing
May 2017

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Nat Genet 2017 Feb 9;49(2):238-248. Epub 2017 Jan 9.

Molecular Neurogenetics Unit and Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473428PMC
February 2017

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

Eur J Med Genet 2014 Oct 3;57(10):587-95. Epub 2014 Sep 3.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; Southeast Scotland Clinical Genetics Services, Western General Hospital, Edinburgh EH4 2XU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.08.007DOI Listing
October 2014

A trans-acting protein effect causes severe eye malformation in the Mp mouse.

PLoS Genet 2013 12;9(12):e1003998. Epub 2013 Dec 12.

The MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1003998DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3861116PMC
August 2014

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Am J Hum Genet 2014 Feb 23;94(2):295-302. Epub 2014 Jan 23.

Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928658PMC
February 2014

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.

Mol Genet Genomic Med 2013 May 27;1(1):15-31. Epub 2013 Mar 27.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine at the University of Edinburgh, Western General Hospital Edinburgh, EH4 2XU, United Kingdom.

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http://dx.doi.org/10.1002/mgg3.2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893155PMC
May 2013