Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia

le Bernabeu, Carmelo, Bayrak-Toydemir, Pinar, McDonald, Jamie, Letarte, Michelle
Foilsithe in J Clin Med (2020)

VarRanker: rapid prioritization of sequence variations associated with human disease

le O'Fallon, Brendan D, Wooderchak-Donahue, Whitney, Bayrak-Toydemir, Pinar, Crockett, David
Foilsithe 2013

Elevated Leukodystrophy Incidence Predicted From Genomics Databases

le Soderholm, Haille E., Chapin, Alexander B., Bayrak-Toydemir, Pinar, Bonkowsky, Joshua L.
Foilsithe in Pediatr Neurol (2020)

Novel de novo ARCN1 intronic variant causes rhizomelic short stature with microretrognathia and developmental delay

le Tidwell, Timothy, Deshotel, Malia, Palumbos, Janice, Miller, Chris, Bayrak-Toydemir, Pinar, Carey, John C.
Foilsithe in Cold Spring Harb Mol Case Stud (2020)

Multiple Sequence Variants in Hereditary Hemorrhagic Telangiectasia Cases: Illustration of Complexity in Molecular Diagnostic Interpretation

le McDonald, Jamie, Gedge, Friederike, Burdette, Allene, Carlisle, James, Bukjiok, Changkuoth Jock, Fox, Michelle, Bayrak-Toydemir, Pınar
Foilsithe 2009

Mosaicism in Stickler syndrome

le Stevenson, David A., Vanzo, Rena, Damjanovich, Kristy, Hanson, Heather, Muntz, Harlan, Hoffman, Robert O., Bayrak-Toydemir, Pinar
Foilsithe 2012

Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification

le Furtado, Larissa V, Wooderchak-Donahue, Whitney, Rope, Alan F, Yetman, Angela T, Lewis, Tracey, Plant, Parker, Bayrak-Toydemir, Pinar
Foilsithe 2011

Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era

le McDonald, Jamie, Wooderchak-Donahue, Whitney, VanSant Webb, Chad, Whitehead, Kevin, Stevenson, David A., Bayrak-Toydemir, Pinar
Foilsithe in Front Genet (2015)

Characterization of a family mutation in the 5’ untranslated region of the endoglin gene causative of hereditary hemorrhagic telangiectasia

le Ruiz-Llorente, Lidia, McDonald, Jamie, Wooderchak-Donahue, Whitney, Briggs, Eric, Chesnutt, Mark, Bayrak-Toydemir, Pinar, Bernabeu, Carmelo
Foilsithe in J Hum Genet (2019)

Clinical and Analytical Sensitivities in Hereditary Hemorrhagic Telangiectasia Testing and a Report of de Novo Mutations

le Gedge, Friederike, McDonald, Jamie, Phansalkar, Amit, Chou, Lan-Szu, Calderon, Fernanda, Mao, Rong, Lyon, Elaine, Bayrak-Toydemir, Pinar
Foilsithe 2007

Genetic Variants Associated with Port-Wine Stains

le Frigerio, Alice, Wright, Karol, Wooderchak-Donahue, Whitney, Tan, Oon T., Margraf, Rebecca, Stevenson, David A., Grimmer, J. Fredrik, Bayrak-Toydemir, Pinar
Foilsithe in PLoS One (2015)

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations

le Bend, Eric G., Si, Yue, Stevenson, David A., Bayrak-Toydemir, Pinar, Newcomb, Tara M., Jorgensen, Erik M., Swoboda, Kathryn J.
Foilsithe in Neurology (2016)

Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period

le Ridge, Perry G, Miller, Christine, Bayrak-Toydemir, Pinar, Best, D Hunter, Mao, Rong, Swensen, Jeffrey J, Lyon, Elaine, Voelkerding, Karl V
Foilsithe 2013

Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1

le Flores Daboub, Josue A., Grimmer, Johanes Fred, Frigerio, Alice, Wooderchak-Donahue, Whitney, Arnold, Ryan, Szymanski, Jeff, Longo, Nicola, Bayrak-Toydemir, Pinar
Foilsithe in Cold Spring Harb Mol Case Stud (2020)

Pathogenic variants that alter protein code often disrupt splicing

le Soemedi, Rachel, Cygan, Kamil J., Rhine, Christy L., Wang, Jing, Bulacan, Charlston, Yang, John, Bayrak-Toydemir, Pinar, McDonald, Jamie, Fairbrother, William G.
Foilsithe in Nat Genet (2017)

5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia

le Damjanovich, Kristy, Langa, Carmen, Blanco, Francisco J, McDonald, Jamie, Botella, Luisa M, Bernabeu, Carmelo, Wooderchak-Donahue, Whitney, Stevenson, David A, Bayrak-Toydemir, Pinar
Foilsithe 2011

Novel PLP1 Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes

le Margraf, Rebecca L., Durtschi, Jacob, Krock, Bryan, Newcomb, Tara M., Bonkowsky, Joshua L., Voelkerding, Karl V., Bayrak-Toydemir, Pinar, Lutz, Richard E., Swoboda, Kathryn J.
Foilsithe in Child Neurol Open (2018)

A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective

le Wooderchak-Donahue, Whitney L, O’Fallon, Brendan, Furtado, Larissa V, Durtschi, Jacob D, Plant, Parker, Ridge, Perry G, Rope, Alan F, Yetman, Angela T, Bayrak-Toydemir, Pinar
Foilsithe 2012

ACMG clinical laboratory standards for next-generation sequencing

le Rehm, Heidi L., Bale, Sherri J, Bayrak-Toydemir, Pinar, Berg, Jonathan S, Brown, Kerry K, Deignan, Joshua L, Friez, Michael J, Funke, Birgit H, Hegde, Madhuri R, Lyon, Elaine
Foilsithe 2013

Inactivating mutations in Drosha mediate vascular abnormalities similar to hereditary hemorrhagic telangiectasia

le Jiang, Xuan, Wooderchak-Donahue, Whitney L., McDonald, Jamie, Ghatpande, Prajakta, Baalbaki, Mai, Sandoval, Melissa, Hart, Daniel, Clay, Hilary, Coughlin, Shaun, Lagna, Giorgio, Bayrak-Toydemir, Pinar, Hata, Akiko
Foilsithe in Sci Signal (2018)