Samantha A Vergano

Samantha A Schrier Vergano

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Samantha A Vergano

Samantha A Schrier Vergano

Publications by authors named "Samantha A Schrier Vergano"

23Publications

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1PubMed Central Citations

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 Jan 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 2020

Case 3: The Hypothermic Newborn.

Neoreviews 2019 02;20(2):e93-e95

Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA.

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http://dx.doi.org/10.1542/neo.20-2-e93DOI Listing
February 2019

Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Am J Hum Genet 2018 12 7;103(6):968-975. Epub 2018 Nov 7.

Division of Nutrition Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
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http://dx.doi.org/10.1016/j.ajhg.2018.10.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288318PMC
December 2018

Congenital lumbar hernia-A feature of diabetic embryopathy?

Am J Med Genet A 2018 11 1;176(11):2243-2249. Epub 2018 Oct 1.

Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.40381DOI Listing
November 2018

First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations.

Am J Med Genet A 2018 11 1;176(11):2250-2258. Epub 2018 Oct 1.

Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.40471DOI Listing
November 2018

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.

Mol Genet Metab 2018 06 28;124(2):124-130. Epub 2018 Apr 28.

Department of Human and Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.04.012DOI Listing
June 2018

Congenital methemoglobinemia type II in a 5-year-old boy.

Clin Case Rep 2018 01 7;6(1):170-178. Epub 2017 Dec 7.

Division of Medical Genetics and Metabolism Children's Hospital of The King's Daughters Norfolk Virginia.

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http://dx.doi.org/10.1002/ccr3.1310DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5771927PMC
January 2018

The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.

Am J Med Genet A 2017 Oct 17;173(10):2814-2820. Epub 2017 Aug 17.

Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

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http://doi.wiley.com/10.1002/ajmg.a.38404
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http://dx.doi.org/10.1002/ajmg.a.38404DOI Listing
October 2017

A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies.

Am J Med Genet A 2017 Sep 27;173(9):2528-2533. Epub 2017 Jun 27.

Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.38344DOI Listing
September 2017

Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

Am J Med Genet A 2016 12 29;170(12):3333-3337. Epub 2016 Aug 29.

Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.37956DOI Listing
December 2016

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.

Am J Med Genet A 2016 08 5;170(8):1967-73. Epub 2016 Jun 5.

Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.37722DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870868PMC
August 2016

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

Am J Med Genet A 2015 Dec 4;167A(12):3180-5. Epub 2015 Sep 4.

Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.37354DOI Listing
December 2015

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Am J Med Genet A 2015 Sep 29;167A(9):2122-31. Epub 2015 Apr 29.

Medical Genetics Institute, Cedars Sinai Medical Center, Division of Medical Genetics, Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California.

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http://doi.wiley.com/10.1002/ajmg.a.37131
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http://dx.doi.org/10.1002/ajmg.a.37131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760347PMC
September 2015

A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3.

Am J Med Genet A 2015 May 8;167A(5):1117-20. Epub 2015 Mar 8.

Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.36970DOI Listing
May 2015

Mosaic trisomy 15 in a liveborn infant.

Am J Med Genet A 2015 Apr 3;167A(4):821-5. Epub 2015 Mar 3.

Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.

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http://dx.doi.org/10.1002/ajmg.a.36958DOI Listing
April 2015