Publications by authors named "Patricia Bader"

32Publications

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

Clin Genet 2019 10 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

7q11.23 Duplication syndrome: Physical characteristics and natural history.

Am J Med Genet A 2015 Dec 3;167A(12):2916-35. Epub 2015 Sep 3.

Departments of Medicine and Molecular Genetics and Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5005957PMC
December 2015

A novel dominant COL11A1 mutation resulting in a severe skeletal dysplasia.

Am J Med Genet A 2014 Oct 4;164A(10):2607-12. Epub 2014 Aug 4.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36688DOI Listing
October 2014

CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.

Eur J Hum Genet 2014 Sep 15;22(9):1071-6. Epub 2014 Jan 15.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA [2] The Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.302DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135413PMC
September 2014

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.

Hum Mol Genet 2014 May 30;23(10):2752-68. Epub 2013 Dec 30.

The Centre for Applied Genomics.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddt669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990173PMC
May 2014

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.

Am J Hum Genet 2013 Aug 27;93(2):197-210. Epub 2013 Jun 27.

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

View Article

Download full-text PDF

Source
http://www.cell.com/cms/attachment/2024885301/2044552963/mmc
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S000292971300269
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2013.05.027DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738832PMC
August 2013

A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation.

Am J Med Genet A 2011 May 7;155A(5):1196-201. Epub 2011 Apr 7.

Division of Genetics, Department of Pediatrics, University of California, San Francisco, 94143-0748, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34002DOI Listing
May 2011

MECP2 duplications in six patients with complex sex chromosome rearrangements.

Eur J Hum Genet 2011 Apr 1;19(4):409-15. Epub 2010 Dec 1.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2010.195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060318PMC
April 2011

Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: Does the relative proportion of the 45,X line really matter?

Am J Med Genet A 2010 Jul;152A(7):1832-7

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33475DOI Listing
July 2010

PTCH1 duplication in a family with microcephaly and mild developmental delay.

Eur J Hum Genet 2009 Feb 1;17(2):267-71. Epub 2008 Oct 1.

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/ejhg.2008.176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986050PMC
February 2009

New perspectives on the face in fetal alcohol syndrome: what anthropometry tells us.

Am J Med Genet 2002 May;109(4):249-60

St. Vincent Hospitals and Health Services, 2001 West 86th Street, PO Box 40970, Indianapolis, IN 46240, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10197DOI Listing
May 2002