ShaneQuinonezMD

Clinical Biochemical Genetics, Clinical Genetics, Pediatric Medical Genetics

Clinical Assistant Professor Co-Director Biochemical Laboratory, Michigan Medical Genetics Laboratory Associate Program Director, Pediatric Residency Program

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Office
1500 East Medical Center Drive
D3236 Medical Professional Building
Ann Arbor, MI 48109
Phone+1 734-763-5589
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Education & Training

University of Michigan Health SystemResidency, Medical Genetics and Genomics, 2011 - 2013
University of Michigan Health SystemFellowship, Pediatrics/Medical Genetics and Genomics, 2009 - 2013
University of Michigan Health SystemResidency, Pediatrics, 2008 - 2011
University of Michigan Medical SchoolClass of 2008

Certifications & Licensure

MI State Medical License 2008 - 2024
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics

Publications & Presentations

PubMed

1 citations
Rare disease therapeutics: The future of medical genetics in a changing landscape.
Christopher D Connolly, Shane C Quinonez, Elizabeth G Ames> ;Genetics in Medicine. 2023 Feb 1
The introduction of clinical genetic testing in Ethiopia: Experiences and lessons learned.
Shane C. Quinonez, Zewdu Terefework> ;American Journal of Medical Genetics. Part A. 2021 Jun 24
2 citations
Trainee perspectives of COVID-19 impact on medical genetics education.
Amanda Barone Pritchard, Christina Sloan-Heggen, Catherine E. Keegan, Shane C. Quinonez> ;Genetics in Medicine. 2021 Feb 12
4 citations
Knowledge and attitudes about genetic counseling in patients at a major hospital in Addis Ababa, Ethiopia.
Michelle F. Jacobs, Bridget C. O’Connor, Abate Yeshidinber Weldetsadik, Atnafu Mekonnen Tekleab, Delayehu Bekele, Erika Hanson, Shane C. Quinonez> ;Journal of Genetic Counseling. 2021 Apr 1
1 citations
The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation.
Kristen N. Lee, Wendy R. Uhlmann, Lauren E. Hipp, Shane C. Quinonez> ;Molecular Genetics and Metabolism Reports. 2020 Oct 1
3 citations
Dramatic improvement in seizures with phenytoin treatment in an individual with refractory epilepsy and a SCN1B variant
Louis T. Dang, Shane C. Quinonez, Bridget R. Becka, Lori L. Isom, Sucheta M. Joshi> ;Pediatric Neurology. 2020 Mar 19
4 citations
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Karin Weiss, Hayley P Lazar, Alina Kurolap, Ariel F Martinez, Tamar Paperna, Lior Cohen, Marie F Smeland, Sandra Whalen, Solveig Heide, Boris Keren, Pauline Terhal, Me...> ;Genetics in Medicine. 2020 Mar 1
22 citations
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Mark N. Ziats, Ayesha Ahmad, John A. Bernat, Rachel Fisher, Megan Glassford, Mark C. Hannibal, Joseph E. Jacher, Natasha E. Weiser, Catherine E. Keegan, Kristen N. Lee...> ;Pediatric Research. 2020 Mar 1
20 citations
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Karin Weiss, Hayley P Lazar, Alina Kurolap, Ariel F Martinez, Tamar Paperna, Lior Cohen, Marie F Smeland, Sandra Whalen, Solveig Heide, Boris Keren, Pauline Terhal, Me...> ;Genetics in Medicine. 2020 Feb 1
1 citations
Infantile onset Pompe disease presenting with non-immune hydrops fetalis.
Kristen N. Lee, Rachel Fisher, Shane C. Quinonez, Ayesha Ahmad> ;Molecular Genetics and Metabolism Reports. 2019 Aug 21
8 citations
Patient preferences for prenatal testing and termination of pregnancy for congenital anomalies and genetic diseases in Ethiopia
Daniel Brooks, Katharine Asta, Julie Sturza, Birhanu Kebede, Delayehu Bekele, Balkachew Nigatu, Jenny Hewison, Shane C. Quinonez> ;Prenatal Diagnosis. 2019 Jul 1
43 citations
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Bobby G. Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A. Bacino, Rita Barone, Lorenzo D. Botto, Jennifer Burton, Colleen M. Carlston, Brian H.Y. Chung,...> ;Human Mutation. 2019 Jul 1
3 citations
DNA LIGASE IV SYNDROME: A RARE CAUSE OF GROWTH FAILURE & HYPOGONADISM.
Jennifer J. Iyengar, Shane C. Quinonez, Nataliya Razumilava, Barbara C. Soyster, Yolanda R. Smith, Mark Vander Lugt, Jennifer Wyckoff> ;AACE Clinical Case Reports. 2019 Mar 1
5 citations
Introducing medical genetics services in Ethiopia using the MiGene Family History App.
Shane C. Quinonez, Abate Yeshidinber, Michael A. Lourie, Delayehu Bekele, Yemisrach Mekonnen, Balkachew Nigatu, Gesit Metaferia, Solomie Jebessa> ;Genetics in Medicine. 2019 Feb 1
6 citations
The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later.
Linford A. Williams, Shane C. Quinonez, Wendy R. Uhlmann> ;Journal of Genetic Counseling. 2017 Jun 13
29 citations
A new POT1 germline mutation—expanding the spectrum of POT1 -associated cancers
Tremika Le Shan Wilson, Namita G. Hattangady, Antonio M. Lerario, Carmen Williams, Erika Koeppe, Shane C. Quinonez, Jenae Osborne, Kelly B. Cha, Tobias Else> ;Familial Cancer. 2017 Apr 7
2 citations
A Marfan syndrome-like phenotype caused by a neocentromeric supernumerary ring chromosome 15.
Shane C. Quinonez, Thomas D. Gelehrter, Wendy R. Uhlmann> ;American Journal of Medical Genetics. Part A. 2017 Jan 1
1 citations
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.
Shane C. Quinonez, Andrea H. Seeley, Cindy Lam, Thomas W. Glover, Bruce A. Barshop, Catherine E. Keegan> ;JIMD Reports. 2016 Aug 13
5 citations
Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.
Shane C. Quinonez, Andrea H. Seeley, Mary Seeterlin, Eleanor Stanley, Ayesha Ahmad> ;Molecular Genetics and Metabolism Reports. 2014 Jan 1
104 citations
Human HOX gene disorders.
Shane C. Quinonez, Jeffrey W. Innis> ;Molecular Genetics and Metabolism. 2014 Jan 1
24 citations
9p partial monosomy and disorders of sex development: review and postulation of a pathogenetic mechanism.
Shane C. Quinonez, John M. Park, Raja Rabah, Kailey M. Owens, Beverly M. Yashar, Thomas W. Glover, Catherine E. Keegan> ;American Journal of Medical Genetics. Part A. 2013 Aug 1
8 citations
Analysis of de novo HOXA13 polyalanine expansions supports replication slippage without repair in their generation.
Kailey M. Owens, Shane C. Quinonez, Peedikayil E. Thomas, Catherine E. Keegan, Nanci Lefebvre, Diane Roulston, Christine A. Larsen, H. Scott Stadler, Jeffrey W. Innis> ;American Journal of Medical Genetics. Part A. 2013 May 1
37 citations
Leigh Syndrome in a Girl With a Novel DLD Mutation Causing E3 Deficiency
Shane C. Quinonez, Steven M. Leber, Donna M. Martin, Jess G. Thoene, Jirair K. Bedoyan> ;Pediatric Neurology. 2013 Jan 1
6 citations
Maternal intrachromosomal insertional translocation leads to recurrent 1q21.3q23.3 deletion in two siblings.
Shane C. Quinonez, Peter Hedera, Mason Barr, Todd Ackley, Cindy Lam, Anjali A. Purkayastha, Thomas W. Glover, Jeffrey W. Innis> ;American Journal of Medical Genetics. Part A. 2012 Oct 1
7 citations
Multiple congenital anomalies and developmental delay in a boy associated with a de novo 16p13.3 deletion.
Marc E. Nelson, Shane C. Quinonez, Todd Ackley, Ram Iyer, Jeffrey W. Innis> ;American Journal of Medical Genetics. Part A. 2011 Mar 1
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