Shane C Quinonez

Shane C Quinonez

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Shane C Quinonez

Shane C Quinonez

Publications by authors named "Shane C Quinonez"

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17Publications

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Infantile onset Pompe disease presenting with non-immune hydrops fetalis.

Mol Genet Metab Rep 2019 Dec 21;21:100503. Epub 2019 Aug 21.

Department of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100503DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6713818PMC
December 2019

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Patient preferences for prenatal testing and termination of pregnancy for congenital anomalies and genetic diseases in Ethiopia.

Prenat Diagn 2019 07 18;39(8):595-602. Epub 2019 Jun 18.

Department of Pediatrics, Division of Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1002/pd.5472DOI Listing
July 2019

Introducing medical genetics services in Ethiopia using the MiGene Family History App.

Genet Med 2019 02 11;21(2):451-458. Epub 2018 Jun 11.

Department of Pediatrics and Child Health, St. Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia.

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http://www.nature.com/articles/s41436-018-0069-6
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http://dx.doi.org/10.1038/s41436-018-0069-6DOI Listing
February 2019

The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later.

J Genet Couns 2017 Oct 13;26(5):894-901. Epub 2017 Jun 13.

Department of Internal Medicine, Division of Molecular Medicine and Genetics, University of Michigan, 300 North Ingalls, NI3 A03, SPC 5419, Ann Arbor, MI, 48109, USA.

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http://dx.doi.org/10.1007/s10897-017-0119-2DOI Listing
October 2017

A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15.

Am J Med Genet A 2017 Jan 14;173(1):268-273. Epub 2016 Oct 14.

Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan.

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http://dx.doi.org/10.1002/ajmg.a.38000DOI Listing
January 2017

Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.

Mol Genet Metab Rep 2014 15;1:345-349. Epub 2014 Aug 15.

University of Michigan, Department of Pediatrics, Division of Pediatric Genetics, 1500 East Medical Center Drive, D5240 MPB/Box 5718, Ann Arbor, MI 48109-5718, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2014.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121342PMC
August 2014

Human HOX gene disorders.

Mol Genet Metab 2014 Jan 29;111(1):4-15. Epub 2013 Oct 29.

University of Michigan, Department of Pediatrics, Division of Pediatric Genetics, 1500 East Medical Center Drive, D5240 MPB/Box 5718, Ann Arbor, MI 48109-5718, USA; University of Michigan, Department of Human Genetics, 1241 E. Catherine, 4909 Buhl Building, Ann Arbor, MI 48109-5618, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2013.10.012DOI Listing
January 2014

9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.

Am J Med Genet A 2013 Aug 3;161A(8):1882-96. Epub 2013 Jul 3.

Department of Pediatrics, Division of Genetics, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1002/ajmg.a.36018DOI Listing
August 2013

Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation.

Am J Med Genet A 2013 May 26;161A(5):1019-27. Epub 2013 Mar 26.

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109-5618, USA.

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http://dx.doi.org/10.1002/ajmg.a.35843DOI Listing
May 2013

Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency.

Pediatr Neurol 2013 Jan;48(1):67-72

Division of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2012.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4535688PMC
January 2013

Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings.

Am J Med Genet A 2012 Oct 17;158A(10):2591-601. Epub 2012 Aug 17.

Division of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, USA.

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http://dx.doi.org/10.1002/ajmg.a.35563DOI Listing
October 2012