Darrel Waggoner

Darrel Waggoner

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Darrel Waggoner

Darrel Waggoner

Publications by authors named "Darrel Waggoner"

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A pathogenic CtBP1 missense mutation causes altered cofactor binding and transcriptional activity.

Neurogenetics 2019 Aug 30;20(3):129-143. Epub 2019 Apr 30.

Institute for Molecular Virology, Department of Molecular Microbiology and Immunology, Saint Louis University School of Medicine, E. A. Doisy Research Center, 6th Floor, St. Louis, MO, 63104, USA.

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http://link.springer.com/10.1007/s10048-019-00578-1
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http://dx.doi.org/10.1007/s10048-019-00578-1DOI Listing
August 2019

The natural history of phytosterolemia: Observations on its homeostasis.

Atherosclerosis 2018 02 28;269:122-128. Epub 2017 Dec 28.

Center for Research and Treatment of Atherosclerosis, University of Manitoba, Winnipeg, Manitoba, Canada, R3E3P4; Department of Pharmacology and Therapeutics, University of Manitoba, Winnipeg, Manitoba, Canada, R3E3P4.

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http://dx.doi.org/10.1016/j.atherosclerosis.2017.12.024DOI Listing
February 2018

Medical genetics and genomics education: how do we define success? Where do we focus our resources?

Genet Med 2017 07 15;19(7):751-753. Epub 2017 Jun 15.

Division of Human Genetics, Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2017.77DOI Listing
July 2017

BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE.

Retin Cases Brief Rep 2016 ;10(3):211-3

*Retina Consultants, Ltd., Des Plaines, Illinois; †Department of Human Genetics and Pediatrics, University of Chicago, Chicago, Illinois; and ‡Retina Chemical Genomics Laboratory, Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois. Metelitsina is now at Eye Care Specialists, LLC, Cape Girardeau, Missouri.

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http://dx.doi.org/10.1097/ICB.0000000000000227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4851602PMC
March 2017

Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2.

Genes Dis 2015 Dec 21;2(4):347-352. Epub 2015 Sep 21.

Department of Surgery, University of Chicago, 5841 S. Maryland Ave, M/C 0077, Chicago, IL 60637.

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http://dx.doi.org/10.1016/j.gendis.2015.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782977PMC
December 2015

A Review of Fanconi Anemia for the Practicing Pediatrician.

Pediatr Ann 2015 Oct;44(10):444-5, 448, 450 passim

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http://dx.doi.org/10.3928/00904481-20151012-11DOI Listing
October 2015

4q21 microdeletion in a patient with epilepsy and brain malformations.

Am J Med Genet A 2015 Jun 2;167(6):1409-13. Epub 2015 Apr 2.

Department of Pediatrics, University of Chicago Comer Children's Hospital, Chicago, Illinios.

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http://dx.doi.org/10.1002/ajmg.a.36910DOI Listing
June 2015

Professional medical education and genomics.

Annu Rev Genomics Hum Genet 2014 12;15:507-16. Epub 2014 Mar 12.

Department of Pediatrics, Carolinas Medical Center, Charlotte, North Carolina 28232; email:

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http://dx.doi.org/10.1146/annurev-genom-090413-025522DOI Listing
May 2015

An estimate of the average number of recessive lethal mutations carried by humans.

Genetics 2015 Apr 18;199(4):1243-54. Epub 2015 Feb 18.

Department of Biological Sciences, Columbia University, New York, New York 10027 Department of Systems Biology, Columbia University, New York, New York 10032

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http://www.genetics.org/content/genetics/199/4/1243.full.pdf
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http://www.genetics.org/content/genetics/early/2015/02/18/ge
Web Search
http://www.genetics.org/cgi/doi/10.1534/genetics.114.173351
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http://dx.doi.org/10.1534/genetics.114.173351DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391560PMC
April 2015

A 13-year old female with intractable seizures.

Brain Pathol 2015 Mar;25(2):231-2

Department of Pathology, University of Chicago, Chicago, Illinois.

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http://dx.doi.org/10.1111/bpa.12245DOI Listing
March 2015

Disclosure of genetic research results to members of a founder population.

J Genet Couns 2014 Dec 29;23(6):984-91. Epub 2014 Apr 29.

Department of Human Genetics, University of Chicago, 5841 S. Maryland Ave. M/C 0077, Chicago, IL, 60637, USA.

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http://dx.doi.org/10.1007/s10897-014-9721-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4337808PMC
December 2014

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Eur J Hum Genet 2014 Jan 1;22(1):57-63. Epub 2013 May 1.

1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [2] Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865402PMC
January 2014

Internet resources in medical genetics.

Curr Protoc Hum Genet 2014 Jan 21;80:Unit 9.12.. Epub 2014 Jan 21.

The University of Chicago, Chicago, Illinois.

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http://dx.doi.org/10.1002/0471142905.hg0912s80DOI Listing
January 2014

Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.

Am J Med Genet A 2013 Sep 2;161A(9):2327-33. Epub 2013 Aug 2.

Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1002/ajmg.a.36061DOI Listing
September 2013

Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population.

Circ Cardiovasc Genet 2013 Aug 17;6(4):327-36. Epub 2013 Jul 17.

Department of Cardiac Sciences, Libin Cardiovascular Institute of Alberta, Calgary, AB, Canada.

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http://dx.doi.org/10.1161/CIRCGENETICS.113.000097DOI Listing
August 2013

Expanding newborn screening for lysosomal disorders: opportunities and challenges.

Dev Disabil Res Rev 2011 ;17(1):9-14

Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1002/ddrr.132DOI Listing
March 2013

RUNX2 quadruplication: additional evidence toward a new form of syndromic craniosynostosis.

J Craniofac Surg 2013 Jan;24(1):126-9

Department of Surgery, and †Genetics; ‡Pediatrics, Comer Children's Hospital, University of Chicago Medical Center, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1097/SCS.0b013e31826686d3DOI Listing
January 2013

An unusual case of an infant with failure to thrive.

Pediatr Ann 2012 Dec;41(12):502-5

Department of Pediatrics, Pritzker School of Medicine, University of Chicago, Chicago, IL, USA.

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http://dx.doi.org/10.3928/00904481-20121126-06DOI Listing
December 2012

A population-based study of autosomal-recessive disease-causing mutations in a founder population.

Am J Hum Genet 2012 Oct 13;91(4):608-20. Epub 2012 Sep 13.

Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484657PMC
October 2012

Parents: critical stakeholders in expanding newborn screening.

J Pediatr 2012 Sep 22;161(3):385-9. Epub 2012 Jun 22.

Department of Pediatrics, University of Chicago, Chicago, IL, USA.

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http://dx.doi.org/10.1016/j.jpeds.2012.04.035DOI Listing
September 2012

Chondrodysplasia punctata associated with malabsorption from bariatric procedures.

Surg Obes Relat Dis 2010 Jan-Feb;6(1):99-101. Epub 2009 May 23.

Department of Pediatrics, University of Chicago Medical Center, Chicago, Illinois, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S15507289090048
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http://dx.doi.org/10.1016/j.soard.2009.05.004DOI Listing
June 2010

Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male.

Clin Pediatr Endocrinol 2010 Jan 11;19(1):15-8. Epub 2010 Mar 11.

Section of General Pediatrics, University of Chicago, Pritzker School of Medicine, Chicago, USA.

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http://dx.doi.org/10.1297/cpe.19.15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687615PMC
January 2010

Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

Circ Cardiovasc Genet 2009 Oct 24;2(5):442-9. Epub 2009 Jul 24.

Department of Medicine, The University of Chicago, Chicago, Ill, USA.

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http://dx.doi.org/10.1161/CIRCGENETICS.109.861955DOI Listing
October 2009

Internet resources in medical genetics.

Curr Protoc Hum Genet 2009 Jul;Chapter 9:Unit 9.12

The University of Chicago, Chicago, Illinois, USA.

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http://dx.doi.org/10.1002/0471142905.hg0912s62DOI Listing
July 2009

Microphthalmia with linear skin defects: a case report and review.

Pediatr Dermatol 2008 Sep-Oct;25(5):548-52

Department of Medicine, Section of Dermatology, University of Chicago, Chicago, Illinois, USA.

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http://dx.doi.org/10.1111/j.1525-1470.2008.00724.xDOI Listing
February 2009

Two Children with macrocephaly, developmental delay, and PTEN mutation.

Clin Pediatr (Phila) 2009 Jan 14;48(1):89-92. Epub 2008 Jul 14.

Department of Pediatrics, University of Chicago, Illinois, USA. uchicago.edu

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http://journals.sagepub.com/doi/10.1177/0009922808321679
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http://dx.doi.org/10.1177/0009922808321679DOI Listing
January 2009

Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome.

Am J Med Genet A 2007 May;143A(10):1082-6

Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA.

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http://dx.doi.org/10.1002/ajmg.a.31697DOI Listing
May 2007

A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex.

Neuromuscul Disord 2007 Apr 1;17(4):285-9. Epub 2007 Mar 1.

Department of Medicine, Section of Cardiology, The University of Chicago, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1016/j.nmd.2007.01.005DOI Listing
April 2007

Mechanisms of disease: epigenesis.

Authors:
Darrel Waggoner

Semin Pediatr Neurol 2007 Mar;14(1):7-14

Department of Human Genetics, University of Chicago, Chicago, IL 60637, USA.

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http://dx.doi.org/10.1016/j.spen.2006.11.004DOI Listing
March 2007

Integration of internet-based genetic databases into the medical school pre-clinical and clinical curriculum.

Genet Med 2006 Jun;8(6):379-82

Department of Human Genetics, University of Chicago, IL 60637, USA.

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http://dx.doi.org/10.109701.gim.0000223543.63104.5aDOI Listing
June 2006

Familial pyloric stenosis associated with developmental delays.

J Pediatr Gastroenterol Nutr 2005 Jul;41(1):129-32

The University of Chicago, Pritzker School of Medicine, Chicago, Illinois 60637, USA.

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http://dx.doi.org/10.1097/01.mpg.0000168261.34403.caDOI Listing
July 2005

Ophthalmoplegia in maple syrup urine disease.

J AAPOS 2003 Aug;7(4):300-2

University of Chicago, Illinois, USA.

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http://dx.doi.org/10.1016/mpa.2003.S1091853103000600DOI Listing
August 2003