Brittany C Thomas

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Multiple jejunal cancers resulting from combination of germline APC and MLH1 mutations

S. Thibodeau, T. Smyrk, N. Lindor, 2012, Familial Cancer.

Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life.

H. Reddi, F. van Rhee, L. Connors, 2014, The Journal of molecular diagnostics : JMD.

Discordant results between biochemical and molecular transthyretin assays: lessons learned from a unique testing algorithm at the Mayo Clinic

H. Reddi, M. Ferber, K. Raymond, 2013, Journal of Genetics.

Rare TBX4 Variant Causing Pulmonary Arterial Hypertension With Small Patella Syndrome in an Adult Man

S. Kushwaha, N. Pereira, T. Kruisselbrink, 2021, JACC. Case reports.

PMS2 monoallelic mutation carriers: the known unknown

Aung Ko Win, C. Boland, S. Thibodeau, 2015, Genetics in Medicine.

Is Self-Disclosure Part of the Genetic Counselor's Clinical Role?

B. LeRoy, Brittany C Thomas, Patricia M Veach, 2006, Journal of Genetic Counseling.

Development and Verification of an RNA Sequencing (RNA-Seq) Assay for the Detection of Gene Fusions in Tumors.

Gavin R. Oliver, Jesse S. Voss, Asha A. Nair, 2018, The Journal of molecular diagnostics : JMD.

The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing.

S. Thibodeau, Liang Wang, L. Boardman, 2007, Genetic testing.

A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir–Torre variant of Lynch syndrome

M. Heckman, N. B. Hanson, K. Leppig, 2014, Genetics in Medicine.

Discordant results between biochemical and molecular transthyretin assays: lessons learned from a unique testing algorithm at the Mayo Clinic

H. Reddi, M. Ferber, K. Raymond, 2013, Journal of Genetics.

DNA Mismatch Repair and Lynch Syndrome

N. Lindor, M. Ferber, Brittany C Thomas, 2009 .

Spindle cell rhabdomyosarcoma of bone with FUS–TFCP2 fusion: confirmation of a very recently described rhabdomyosarcoma subtype

Asha A. Nair, J. Buckner, A. Folpe, 2018, Histopathology.

Origins and prevalence of the American Founder Mutation of MSH2.

Shuying Sun, S. Thibodeau, S. Liyanarachchi, 2008, Cancer research.

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases

Denise L. Perry, D. Bentley, R. Taft, 2023, Cell genomics.

The Utilization of Counseling Skills by the Laboratory Genetic Counselor

K. Wain, Brittany C Thomas, McKinsey L. Goodenberger, 2015, Journal of Genetic Counseling.

Frequency of deletions of EPCAM (TACSTD1) in MSH2-associated Lynch syndrome cases.

P. Laird, D. Weisenberger, J. Potter, 2011, The Journal of molecular diagnostics : JMD.

Screening for Muir-Torre Syndrome Using Mismatch Repair Protein Immunohistochemistry of Sebaceous Neoplasms

M. Heckman, M. Roberts, Colleen S. Thomas, 2013, Journal of Genetic Counseling.

The Genetic Counselor’s Role in Managing Ethical Dilemmas Arising in the Laboratory Setting

Brittany C Thomas, Katrina E. Kotzer, Jessica R. Balcom, 2016, Journal of Genetic Counseling.

An American founder mutation in MLH1

S. Gruber, S. Thibodeau, S. Liyanarachchi, 2012, International journal of cancer.

Clinical significance of tumor microsatellite instability and immunohistochemistry for mismatch repair deficiency in colorectal cancers

S. Thibodeau, N. Lindor, Brittany C Thomas, 2005 .

Genetic Counseling for Cancer: Technology Promises Better Screening for Hereditary Cancer Patients

K. Niendorf, Brittany C Thomas, 2013, Current Genetic Medicine Reports.

Increasing genetic counseling referral rates through bundled interventions after ovarian cancer diagnosis.

J. Bakkum-Gamez, K. Mara, M. Wick, 2018, Gynecologic oncology.

“What Would You Do if You Were Me?” Effects of Counselor Self-Disclosure Versus Non-disclosure in a Hypothetical Genetic Counseling Session

Ian M. MacFarlane, Amy L. Paine, B. LeRoy, 2010, Journal of Genetic Counseling.

Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

Tammy M. McAllister, V. Ramanan, L. Roberts, 2023, Journal of Translational Medicine.

Clinical Validation of a Next Generation Sequencing Panel Test for Hereditary Colorectal Cancer

M. Ferber, Numrah Fadra, Brittany C Thomas, 2016 .

Multiple endocrine neoplasia type 2A due to an exon 8 (G533C) mutation in a large North American kindred.

M. Castro, Jun Zhang, Brittany C Thomas, 2013, Thyroid : official journal of the American Thyroid Association.

Self Diagnosis of Lynch Syndrome Using Direct to Consumer Genetic Testing: A Case Study

M. Roberts, Brittany C Thomas, D. Riegert-Johnson, 2011, Journal of Genetic Counseling.