Publications by authors named "Virginia P Sybert"

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Dual diagnosis of -related mitochondrial complex III deficiency and recessive -related cataracts.
Elizabeth E Blue, Samuel J Huang, Alyna Khan, Katie Golden-Grant, Brenna Boyd, Virginia P Sybert

Rare· August 2024

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Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, Lee-Kai Wang, Ulrike Schwarze, Virginia P Sybert

Neurol Genet· October 2023

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Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Jonai Pujol-Giménez, Ghayda Mirzaa, Elizabeth E Blue, Giuseppe Albano, Danny E Miller, Virginia P Sybert

Ann Clin Transl Neurol· June 2023

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Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
Andrew B Stergachis, Elizabeth E Blue, Madelyn A Gillentine, Lee-Kai Wang, Ulrike Schwarze, Virginia P Sybert

bioRxiv· February 2023

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Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update.
Nicolai Peschel, John T Wright, Maranke I Koster, Angus J Clarke, Gianluca Tadini, Virginia P Sybert

Genes (Basel)· December 2022

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Cardiovascular outcomes of pregnancy in Turner syndrome.
Jasmine Grewal, Anne Marie Valente, Alexander C Egbe, Fred M Wu, Eric V Krieger, Virginia P Sybert

Heart· January 2021

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Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
John Timothy Wright, Mary Fete, Holm Schneider, Madelaine Zinser, Maranke I Koster, Virginia P Sybert

Am J Med Genet A· March 2019

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Postnatal outcomes of prenatally diagnosed 45,X/46,XX.
Mari J Tokita, Virginia P Sybert

Am J Med Genet A· May 2016

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So You Want to Be in Journals, or What Happens When You Press "Send".
Virginia P Sybert

Pediatr Dermatol· April 2016

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Ventral midline blanching in the setting of segmental infantile hemangiomas: clinical observations and pathogenetic implications.
Dana F Feigenbaum, Virginia P Sybert, Sheryll L Vanderhooft, Dawn Siegel, Beth A Drolet

Pediatr Dermatol· December 2015

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A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
Jennifer J Johnston, Monica Y Sanchez-Contreras, Kim M Keppler-Noreuil, Julie Sapp, Molly Crenshaw, Virginia P Sybert

Am J Hum Genet· September 2015

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Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Laura M Amendola, Michael O Dorschner, Peggy D Robertson, Joseph S Salama, Ragan Hart, Virginia P Sybert

Genome Res· March 2015

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Folliculocystic and collagen hamartoma of tuberous sclerosis complex.
Antonio Torrelo, Smail Hadj-Rabia, Isabel Colmenero, Robert Piston, Virginia P Sybert

J Am Acad Dermatol· April 2012

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Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.
Emmelien Aten, Lisa C Brasz, Dorothea Bornholdt, Ingeborg B Hooijkaas, Mary E Porteous, Virginia P Sybert

Hum Mutat· October 2010

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Genetic counseling in epidermolysis bullosa.
Virginia P Sybert

Dermatol Clin· April 2010

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International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome.
Mary Fete, Hans vanBokhoven, Suzanne E Clements, Frank McKeon, Dennis R Roop, Virginia P Sybert

Am J Med Genet A· September 2009

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Dermatologic findings of ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome.
Meena R Julapalli, Richard K Scher, Virginia P Sybert, Elaine C Siegfried, Alanna F Bree

Am J Med Genet A· September 2009

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Mosaicism in genetic skin disorders.
Dawn H Siegel, Virginia P Sybert

Pediatr Dermatol· July 2006

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Hereditary woolly hair and keratosis pilaris.
Andy J Chien, Mark C Valentine, Virginia P Sybert

J Am Acad Dermatol· February 2006

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Skin erosions and wound healing in ankyloblepharon-ectodermal defect-cleft lip and/or palate.
Elaine Siegfried, Alanna Bree, Mary Fete, Virginia P Sybert

Arch Dermatol· December 2005

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Understanding aneuploidy.
Dawn H Siegel, Virginia P Sybert

Pediatr Dermatol· August 2005

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Mosaicism in cutaneous pigmentation.
Vivian A Lombillo, Virginia P Sybert

Curr Opin Pediatr· August 2005

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Growth characteristics of children with ectodermal dysplasia syndromes.
Kathleen J Motil, Timothy J Fete, J Kennard Fraley, Rebecca J Schultz, Thomas M Foy, Virginia P Sybert

Pediatrics· August 2005

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Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
David P Kelsell, Elizabeth E Norgett, Harriet Unsworth, Muy-Teck Teh, Thomas Cullup, Virginia P Sybert

Am J Hum Genet· May 2005

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Turner's syndrome.
Virginia P Sybert, Elizabeth McCauley

N Engl J Med· September 2004

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