Carrier screening for spinal muscular atrophy

le Prior, Thomas W.
Foilsithe 2008

Next-generation carrier screening: are we ready?

le Prior, Thomas W
Foilsithe in Genome Med (2014)

Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy

le Prior, Thomas W., Bridgeman, Scott J.
Foilsithe 2005

Mutation Screening in Juvenile Polyposis Syndrome

le Pyatt, Robert E., Pilarski, Robert, Prior, Thomas W.
Foilsithe 2006

A case report of genetic prion disease with two different PRNP variants

le Piazza, Megan, Prior, Thomas W., Khalsa, Prabhjot S., Appleby, Brian
Foilsithe in Mol Genet Genomic Med (2020)

Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance

le Keinath, Melissa C, Prior, Devin E, Prior, Thomas W
Foilsithe in Appl Clin Genet (2021)

Homozygous SMN1 Deletions in Unaffected Family Members and Modification of the Phenotype by SMN2

le Prior, Thomas W., Swoboda, Kathryn J., Scott, H. Denman, Hejmanowski, Ashley Q.
Foilsithe in Am J Med Genet A (2004)

A 39-bp Deletion Polymorphism in PTEN in African American Individuals: Implications for Molecular Diagnostic Testing

le Zhou, Xiao-Ping, Hampel, Heather, Roggenbuck, Jennifer, Saba, Nabil, Prior, Thomas W., Eng, Charis
Foilsithe 2002

A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy

le Wu, Xingxing, Wang, Shu-Huei, Sun, Junjie, Krainer, Adrian R, Hua, Yimin, Prior, Thomas W
Foilsithe in Hum Mol Genet (2017)

Detection of Common Disease-Causing Mutations in Mitochondrial DNA (Mitochondrial Encephalomyopathy, Lactic Acidosis with Stroke-Like Episodes MTTL1 3243 A>G and Myoclonic Epilepsy...

le Fan, Hongxin, Civalier, Chris, Booker, Jessica K., Gulley, Margaret L., Prior, Thomas W., Farber, Rosann A.
Foilsithe 2006

A common spinal muscular atrophy deletion mutation is present on a single founder haplotype in the US Hutterites

le Chong, Jessica X, Oktay, A Afşin, Dai, Zunyan, Swoboda, Kathryn J, Prior, Thomas W, Ober, Carole
Foilsithe 2011

Polymorphic Variation at the BAT-25 and BAT-26 Loci in Individuals of African Origin : Implications for Microsatellite Instability Testing

le Pyatt, Robert, Chadwick, Robert B., Johnson, Cheryl K., Adebamowo, Clement, de la Chapelle, Albert, Prior, Thomas W.
Foilsithe 1999

Newborn Screening for Spinal Muscular Atrophy by Calibrated Short-Amplicon Melt Profiling

le Dobrowolski, Steven F., Pham, Ha T., Pouch-Downes, Frances, Prior, Thomas W., Naylor, Edwin W., Swoboda, Kathy J.
Foilsithe in Clin Chem (2012)

Serum versus Imaging Biomarkers in Friedreich Ataxia to Indicate Left Ventricular Remodeling and Outcomes

le Mehta, Nishaki, Chacko, Paul, Jin, James, Tran, Tam, Prior, Thomas W., He, Xin, Agarwal, Gunjan, Raman, Subha V.
Foilsithe in Tex Heart Inst J (2016)

Cdc25A Regulates Matrix Metalloprotease 1 through Foxo1 and Mediates Metastasis of Breast Cancer Cells

le Feng, Xiaoling, Wu, Zhaojia, Wu, Yongsheng, Hankey, William, Prior, Thomas W., Li, Lei, Ganju, Ramesh K., Shen, Rulong, Zou, Xianghong
Foilsithe 2011

Natural History of Denervation in SMA: Relation to Age, SMN2 Copy Number, and Function

le Swoboda, Kathryn J., Prior, Thomas W., Scott, Charles B., McNaught, Teresa P., Wride, Mark C., Reyna, Sandra P., Bromberg, Mark B.
Foilsithe in Ann Neurol (2005)

A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

le Prior, Thomas W., Krainer, Adrian R., Hua, Yimin, Swoboda, Kathryn J., Snyder, Pamela C., Bridgeman, Scott J., Burghes, Arthur H.M., Kissel, John T.
Foilsithe 2009

Variable phenotypic expression and onset in MYH14 distal HMN phenotype in a large, multigenerational North American family

le Iyadurai, Stanley, Arnold, W. David, Kissel, John T., Ruhno, Corey, McGovern, Vicki L., Snyder, Pamela J., Prior, Thomas W., Roggenbuck, Jennifer, Burghes, Arthur H., Kolb, Stephen J.
Foilsithe in Muscle Nerve (2017)

SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials

le Zaworski, Phillip, von Herrmann, Katharine M., Taylor, Shannon, Sunshine, Sara S., McCarthy, Kathleen, Risher, Nicole, Newcomb, Tara, Weetall, Marla, Prior, Thomas W., Swoboda, Kathryn J., Chen, Karen S., Paushkin, Sergey
Foilsithe in PLoS One (2016)

Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome

le Raman, Subha V., Phatak, Kavita, Hoyle, J. Chad, Pennell, Michael L., McCarthy, Beth, Tran, Tam, Prior, Thomas W., Olesik, John W., Lutton, Anthony, Rankin, Chelsea, Kissel, John T., al-Dahhak, Roula
Foilsithe 2011