Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia

por Bernabeu, Carmelo, Bayrak-Toydemir, Pinar, McDonald, Jamie, Letarte, Michelle
Publicado 2020

Combining genetic constraint with predictions of alternative splicing to prioritize deleterious splicing in rare disease studies

por Cormier, Michael J., Pedersen, Brent S., Bayrak-Toydemir, Pinar, Quinlan, Aaron R.
Publicado 2022

VarRanker: rapid prioritization of sequence variations associated with human disease

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

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

por Tidwell, Timothy, Deshotel, Malia, Palumbos, Janice, Miller, Chris, Bayrak-Toydemir, Pinar, Carey, John C.
Publicado 2020

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

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

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

por McDonald, Jamie, Wooderchak-Donahue, Whitney, VanSant Webb, Chad, Whitehead, Kevin, Stevenson, David A., Bayrak-Toydemir, Pinar
Publicado 2015

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

por Ruiz-Llorente, Lidia, McDonald, Jamie, Wooderchak-Donahue, Whitney, Briggs, Eric, Chesnutt, Mark, Bayrak-Toydemir, Pinar, Bernabeu, Carmelo
Publicado 2019

Genetic Variants Associated with Port-Wine Stains

por Frigerio, Alice, Wright, Karol, Wooderchak-Donahue, Whitney, Tan, Oon T., Margraf, Rebecca, Stevenson, David A., Grimmer, J. Fredrik, Bayrak-Toydemir, Pinar
Publicado 2015

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

por Bend, Eric G., Si, Yue, Stevenson, David A., Bayrak-Toydemir, Pinar, Newcomb, Tara M., Jorgensen, Erik M., Swoboda, Kathryn J.
Publicado 2016

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

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

Parkes Weber syndrome associated with two somatic pathogenic variants in RASA1

por Flores Daboub, Josue A., Grimmer, Johanes Fred, Frigerio, Alice, Wooderchak-Donahue, Whitney, Arnold, Ryan, Szymanski, Jeff, Longo, Nicola, Bayrak-Toydemir, Pinar
Publicado 2020

Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics

por Ward, Alistair, Velinder, Matt, Di Sera, Tonya, Ekawade, Aditya, Malone Jenkins, Sabrina, Moore, Barry, Mao, Rong, Bayrak-Toydemir, Pinar, Marth, Gabor
Publicado 2022

Pathogenic variants that alter protein code often disrupt splicing

por Soemedi, Rachel, Cygan, Kamil J., Rhine, Christy L., Wang, Jing, Bulacan, Charlston, Yang, John, Bayrak-Toydemir, Pinar, McDonald, Jamie, Fairbrother, William G.
Publicado 2017

5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia

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

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

por 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.
Publicado 2018

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

por 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
Publicado 2012

Effective variant filtering and expected candidate variant yield in studies of rare human disease

por Pedersen, Brent S., Brown, Joe M., Dashnow, Harriet, Wallace, Amelia D., Velinder, Matt, Tristani-Firouzi, Martin, Schiffman, Joshua D., Tvrdik, Tatiana, Mao, Rong, Best, D. Hunter, Bayrak-Toydemir, Pinar, Quinlan, Aaron R.
Publicado 2021

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

por Lukacs, Viktor, Mathur, Jayanti, Mao, Rong, Bayrak-Toydemir, Pinar, Procter, Melinda, Cahalan, Stuart M., Kim, Helen J., Bandell, Michael, Longo, Nicola, Day, Ronald W., Stevenson, David A., Patapoutian, Ardem, Krock, Bryan L.
Publicado 2015

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT‐like” syndrome in children

por Hodgson, Joshua, Ruiz‐Llorente, Lidia, McDonald, Jamie, Quarrell, Oliver, Ugonna, Kelechi, Bentham, James, Mason, Rebecca, Martin, Jennifer, Moore, David, Bergstrom, Katie, Bayrak‐Toydemir, Pinar, Wooderchak‐Donahue, Whitney, Morrell, Nicholas W., Condliffe, Robin, Bernabeu, Carmelo, Upton, Paul D.
Publicado 2021

Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome

por Reynolds, Hayley M., Wen, Ting, Farrell, Andrew, Mao, Rong, Moore, Barry, Boyden, Steven E., Bayrak-Toydemir, Pinar, Nicholas, Thomas J., Rynearson, Shawn, Holt, Carson, Miller, Christine, Noble, Katherine, Bentley, Dawn, Palmquist, Rachel, Ostrander, Betsy, Manberg, Stephanie, Bonkowsky, Joshua L., Shayota, Brian J., Jenkins, Sabrina Malone
Publicado 2022