Patricia G Wheeler

Patricia G Wheeler

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Patricia G Wheeler

Patricia G Wheeler

Publications by authors named "Patricia G Wheeler"

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26Publications

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Heterozygous Pathogenic Variant in DACT1 Causes an Autosomal-Dominant Syndrome with Features Overlapping Townes-Brocks Syndrome.

Hum Mutat 2017 04 2;38(4):373-377. Epub 2017 Feb 2.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.

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http://dx.doi.org/10.1002/humu.23171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390682PMC
April 2017

Whole exome sequence analysis of Peters anomaly.

Hum Genet 2014 Dec 3;133(12):1497-511. Epub 2014 Sep 3.

Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin, Milwaukee, WI, 53226, USA.

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http://dx.doi.org/10.1007/s00439-014-1481-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4395516PMC
December 2014

Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals.

Am J Med Genet A 2014 Jul 8;164A(7):1826-9. Epub 2014 Apr 8.

Divison of Genetics, Nemours Children's Clinic, Orlando, Florida.

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http://dx.doi.org/10.1002/ajmg.a.36542DOI Listing
July 2014

8q23-q24 duplication--further delineation of a rare chromosomal abnormality.

Am J Med Genet A 2010 Feb;152A(2):459-63

Division of Genetics, Nemours Children's Clinic, Orlando, Florida 32806, USA.

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http://dx.doi.org/10.1002/ajmg.a.33237DOI Listing
February 2010

Adults with VATER association: long-term prognosis.

Am J Med Genet A 2005 Oct;138A(3):212-7

Division of Genetics/Metabolism, Nemours Children's Clinic, Orlando, FL 32806, USA.

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http://dx.doi.org/10.1002/ajmg.a.30938DOI Listing
October 2005

Simultaneous occurrence of neurofibromatosis type 1 and tuberous sclerosis in a young girl.

Am J Med Genet A 2005 Feb;133A(1):78-81

Division of Genetics and Metabolism, Nemours Children's Clinic, Orlando, Florida, USA.

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http://dx.doi.org/10.1002/ajmg.a.30530DOI Listing
February 2005

Short stature and functional impairment: a systematic review.

Arch Pediatr Adolesc Med 2004 Mar;158(3):236-43

Division of Genetics, Department of Pediatrics, Tufts University School of Medicine, Floating Hospital for Children, Boston, MA, USA.

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http://dx.doi.org/10.1001/archpedi.158.3.236DOI Listing
March 2004

Craniosynostosis and congenital heart anomalies associated with a maternal deletion of 15q15-22.1.

Am J Med Genet A 2003 Aug;120A(4):542-6

Albert Einstein College of Medicine, Bronx, New York, USA.

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http://doi.wiley.com/10.1002/ajmg.a.20093
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http://dx.doi.org/10.1002/ajmg.a.20093DOI Listing
August 2003

Fetal diaphragmatic hernia and upper limb anomalies suggest Brachmann-de Lange syndrome.

Prenat Diagn 2002 Feb;22(2):144-7

Division of Maternal-Fetal Medicine, Department of Pediatrics, New England Medical Center and Tufts University School of Medicine, Boston, MA 02111, USA.

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http://dx.doi.org/10.1002/pd.281DOI Listing
February 2002