Publications by authors named "Amarilis Sanchez-Valle"

16Publications

Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for FOXA2 in 20p11.2 deletion syndrome.

Am J Med Genet A 2019 09 11;179(9):1783-1790. Epub 2019 Jul 11.

Department of Pediatrics, Division of Genetic Medicine, University of Washington/Seattle Children's Hospital, Seattle, Washington.

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http://dx.doi.org/10.1002/ajmg.a.61281DOI Listing
September 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Prolonged clonazepam-induced withdrawal symptoms in an NAT2 ultraslow acetylator.

Pharmacogenomics 2019 01 6;20(2):69-73. Epub 2018 Dec 6.

Department of Pediatrics, USF Health South Tampa Center for Advanced Healthcare, Tampa, FL 33606, USA.

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https://www.futuremedicine.com/doi/10.2217/pgs-2018-0145
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http://dx.doi.org/10.2217/pgs-2018-0145DOI Listing
January 2019

Biliary Atresia: Epidemiology, Genetics, Clinical Update, and Public Health Perspective.

Adv Pediatr 2017 08;64(1):285-305

Department of Community and Family Health, College of Public Health, University of South Florida, Tampa, FL, USA. Electronic address:

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http://dx.doi.org/10.1016/j.yapd.2017.03.012DOI Listing
August 2017

Constitutional Chromoanagenesis of Distal 13q in a Young Adult with Recurrent Strokes.

Cytogenet Genome Res 2016 9;150(1):46-51. Epub 2016 Nov 9.

Laboratory Corporation of America® Holdings, Research Triangle Park, N.C., USA.

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http://dx.doi.org/10.1159/000452144DOI Listing
January 2017

A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report.

J Med Case Rep 2016 Feb 2;10:25. Epub 2016 Feb 2.

Department of Pediatrics, USF Health South Tampa Center for Advanced Healthcare, 2 Tampa General Circle, Tampa, FL, 33606, USA.

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http://dx.doi.org/10.1186/s13256-016-0811-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4738771PMC
February 2016

Dyschromatosis symmetrica hereditaria by ADAR1 mutations and viral encephalitis: a hidden link?

Int J Dermatol 2013 Dec;52(12):1582-4

Department of Dermatology Nagoya University Graduate School of Medicine Nagoya Japan E-mail: of Pediatrics Division of Genetics University of South Florida Tampa FL USA.

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http://dx.doi.org/10.1111/j.1365-4632.2011.05372.xDOI Listing
December 2013

The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome.

Am J Med Genet A 2011 Feb 13;155A(2):363-6. Epub 2011 Jan 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.33844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3092288PMC
February 2011