Ganka Douglas

Ganka Douglas

UNVERIFIED PROFILE

Are you Ganka Douglas?   Register this Author

Register author
Ganka Douglas

Ganka Douglas

Publications by authors named "Ganka Douglas"

Are you Ganka Douglas?   Register this Author

34Publications

2626Reads

48Profile Views

Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability.

Clin Genet 2019 Oct 17;96(4):354-358. Epub 2019 Jul 17.

Département de Biochimie et Génétique du CHU d'Angers, Centre Hospitalier Universitaire d'Angers, Angers, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13603DOI Listing
October 2019

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

Hum Mutat 2018 12 24;39(12):1875-1884. Epub 2018 Sep 24.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23627DOI Listing
December 2018

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.

View Article

Download full-text PDF

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

The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

Am J Med Genet A 2017 Nov 21;173(11):3022-3028. Epub 2017 Sep 21.

Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38485DOI Listing
November 2017

Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity.

Am J Med Genet A 2017 Jan 16;173(1):213-216. Epub 2016 Nov 16.

Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.37977
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37977DOI Listing
January 2017

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

View Article

Download full-text PDF

Source
http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.

Cold Spring Harb Mol Case Stud 2016 Jan;2(1):a000661

Department of Pediatrics, Columbia University Medical Center, New York, New York 10032, USA;; Department of Medicine, Columbia University Medical Center, New York, New York 10032, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/mcs.a000661DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4849844PMC
January 2016

Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene.

J Cyst Fibros 2013 May 19;12(3):290-4. Epub 2012 Sep 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX77030, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jcf.2012.08.017DOI Listing
May 2013

Diagnostic approaches to apparent homozygosity.

Genet Med 2012 Oct 17;14(10):877-82. Epub 2012 May 17.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2012.58DOI Listing
October 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.

View Article

Download full-text PDF

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

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.

Mol Genet Metab 2011 Aug 7;103(4):349-57. Epub 2011 May 7.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX 77030, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.05.001DOI Listing
August 2011