Publications by authors named "Ina E Amarillo"

10Publications

Creating Affirmative and Inclusive Practices When Providing Genetic and Genomic Diagnostic and Research Services to Gender-Expansive and Transgender Patients.

J Appl Lab Med 2020 Nov 24. Epub 2020 Nov 24.

Division of Laboratory and Genomic Medicine, Department of Pathology and Immunology, Washington University School of Medicine in Saint Louis, MO.

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http://dx.doi.org/10.1093/jalm/jfaa165DOI Listing
November 2020

Delineation of the 1q24.3 microdeletion syndrome provides further evidence for the potential role of non-coding RNAs in regulating the skeletal phenotype.

Bone 2020 Oct 22;142:115705. Epub 2020 Oct 22.

Department of Pediatrics, Division of Medical Genetics, Washington University School of Medicine, St. Louis, MO, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2020.115705DOI Listing
October 2020

Risk association of congenital anomalies in patients with ambiguous genitalia: A 22-year single-center experience.

J Pediatr Urol 2018 04 20;14(2):153.e1-153.e7. Epub 2017 Nov 20.

Division of Laboratory and Genomic Medicine, Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St Louis, MO, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jpurol.2017.09.027DOI Listing
April 2018

Mixed Donor Chimerism Following Simultaneous Pancreas-Kidney Transplant.

Exp Clin Transplant 2018 Jun 28;16(3):307-313. Epub 2017 Jun 28.

U.O.C. Division of Immunohematology, Transfusion Medicine and Transplant Immunology, Regional Reference Laboratory of Transplant Immunology, Azienda Ospedaliera Universitaria, Second University of Naples, Naples, Italy.

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http://dx.doi.org/10.6002/ect.2016.0299DOI Listing
June 2018

Small copy-number variations involving genes of the FGF pathway in differences in sex development.

Hum Genome Var 2017 13;4:17011. Epub 2017 Apr 13.

Cytogenetics and Molecular Pathology Laboratory, Division of Laboratory and Genomic Medicine, Department of Pathology and Immunology, Washington University in St Louis School of Medicine, Saint Louis, MO, USA.

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http://dx.doi.org/10.1038/hgv.2017.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390097PMC
April 2017

Integrated small copy number variations and epigenome maps of disorders of sex development.

Hum Genome Var 2016 9;3:16012. Epub 2016 Jun 9.

Department of Genetics, Washington University in St Louis School of Medicine , St Louis, MO, USA.

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http://dx.doi.org/10.1038/hgv.2016.12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4899613PMC
June 2016

De novo 9q gain in an infant with tetralogy of Fallot with absent pulmonary valve: Patient report and review of congenital heart disease in 9q duplication syndrome.

Am J Med Genet A 2015 Dec 19;167A(12):2966-74. Epub 2015 Aug 19.

Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri.

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http://dx.doi.org/10.1002/ajmg.a.37296DOI Listing
December 2015

De novo single exon deletion of AUTS2 in a patient with speech and language disorder: a review of disrupted AUTS2 and further evidence for its role in neurodevelopmental disorders.

Am J Med Genet A 2014 Apr 23;164A(4):958-65. Epub 2014 Jan 23.

Departments of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.

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http://doi.wiley.com/10.1002/ajmg.a.36393
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http://dx.doi.org/10.1002/ajmg.a.36393DOI Listing
April 2014

Familial microdeletion of 17q24.3 upstream of SOX9 is associated with isolated Pierre Robin sequence due to position effect.

Am J Med Genet A 2013 May 26;161A(5):1167-72. Epub 2013 Mar 26.

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90024, USA.

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http://doi.wiley.com/10.1002/ajmg.a.35847
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http://dx.doi.org/10.1002/ajmg.a.35847DOI Listing
May 2013