Ana S A Cohen

Ana S A Cohen

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Ana S A Cohen

Ana S A Cohen

Publications by authors named "Ana S A Cohen"

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Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

Loss of maternal EED results in postnatal overgrowth.

Clin Epigenetics 2018 07 13;10(1):95. Epub 2018 Jul 13.

Centre for Reproductive Health, Hudson Institute of Medical Research and Department of Molecular and Translational Science, Monash University, Clayton, Victoria, 3168, Australia.

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http://dx.doi.org/10.1186/s13148-018-0526-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6045828PMC
July 2018

A novel mutation in EED associated with overgrowth.

J Hum Genet 2015 Jun 19;60(6):339-42. Epub 2015 Mar 19.

1] Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada [2] Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, BC, Canada.

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http://dx.doi.org/10.1038/jhg.2015.26DOI Listing
June 2015

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis.

Am J Med Genet A 2014 Sep 5;164A(9):2360-4. Epub 2014 Jun 5.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada; Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, BC, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36622DOI Listing
September 2014