Publications

Faculty Publications Student Publications

Faculty Publications

Evaluation of face validity and core concepts of a novel knowledge scale for inherited heart disease: A pilot study. Susan Christian, Tara Dzwiniel, Amy Baker, Barbara Biesecker, Kennedy Borle, Roya Mostafavi, Jill Slamon, Hannah Wand, Laura Yeates.

Using MRI-derived observed-to-expected total fetal lung volume to predict lethality in fetal skeletal dysplasia. Amy R. Mehollin-Ray, Samantha Stover, Christopher I. Cassady, Bin Zhang, Maria Calvo-Garcia, & Beth Kline-Fath.

How the other half screens: A model for partnerships between student-run free clinics and genetic counseling programs to address disparities in hereditary cancer evaluation. Jordano, J. O., Gallion, T., Cevan, C., Carew, B., Lloyd, M. C., Weaver, E. O., Miller, R. F., & Dudek, M. (2023).

Alpha-1-antitrypsin antagonizes COVID-19: a review of the epidemiology, molecular mechanisms, and clinical evidence. Bai X, Schountz T, Buckle AM, Talbert JL, Sandhaus RA, Chan, ED.

Collaborative efforts to improve genetic testing in the neonatal intensive care unit. Bryce A. Schuler; Mackenzie Mosera; L.Dupree Hatch; Angela Grochowsky; Ferrin Wheeler.

Germline EGFR mutations and familial lung cancer

Geoffrey R. Oxnard ;Ruthia Chen ; Jennifer C. Pharr; Diane R. Koeller ; Arrien A. Bertram ; Suzanne E. Dahlberg ; Irene Rainville ; Kate Shane-Carson; Kelly A. Taylor; Alicia Sable-Hunt; Lynette M. Sholl ; Craig C. Teerlink ;Alun Thomas; Lisa A. Cannon-Albright ; André P. Fay; Patrícia Ashton-Prolla ; Hao Yang; Mary M. Salvatore; Bonnie J. Addario; Pasi A. Jänne ; David P. Carbone Georgia L. Wiesner and Judy E. Garber.

Katherine Termini MD, Ekra Anand BS candidate, Tucker Hickox BS, Lucas D Richter MS, Joshua Ryan Smith MD.

Fetal Nephrology: A Quaternary Care Center Experience. Kidney360. 2023 Mar 1;4(3):333-340. doi: 10.34067/KID.0004782022. Plaud Gonzalez AM, Joseph C, Stover SR, Nassr A, Koh CJ, Angelo JR, Braun MC.

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios. Clinical Case Reports. 2023 Feb 23;11(2):e6692. doi: 10.1002/ccr3.6692;Sakyu T, Stover SR, Wang Y, Ward P, Gandhi M, Braun MC, Van den Veyver IB, Bi W.

Implication of chromosomal microarray analysis prior to in-utero repair of fetuses with open neural tube defects. Ultrasound in Obstetrics & Gynecology. 2023 Jan 7. doi: 10.1002/uog.26152; Zemet R, Krispin E, Johnson RM, Kumar NR, Westerfield LE, Stover S, Mann DG, Castillo J, Castillo HA, Nassr AA, Cortes MS, Donepudi R, Espinoza J, Whitehead WE, Belfort MA, Shamshirsaz AA, Van den Veyver IB.

An overview of genetic services delivery for hereditary breast cancer. Breast Cancer Res Treat. 2022 Feb;191(3):491-500. doi: 10.1007/s10549-021-06478-z. Epub 2022 Jan 26. PMID: 35079980; PMCID: PMC8789372 Reid S, Spalluto LB, Lang K, Weidner A, Pal T.

Pulmonary Fibrosis Foundation Genetic Testing Work Group Chad A.Newton MD, Justin M.Oldham MD, Carolyn Applegate MGC, Nikkola Carmichael PhD CGC, Karen Powell MS CGC, Dan Dilling MD, Shelley L.Schmidt MD, Mary Beth Scholand MD, MaryArmanios MD, Christine KimGarcia MD PhD, Jonathan A. Kropski MD, Janet Talbert MS CGC

Pulmanary Fibrosis Predisposition Overview Garcia CK, Talbert JL.2005 Jan 21 [updated 2022 May 12. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A,

Polygenic Risk Score Task Force of the International Common Disease Alliance. Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps. Nat Med (2021). https://doi.org/10.1038/s41591-021-01549-6: Adebowale Adeyemo, Mary K. Balaconis, Deanna R. Darnes, Segun Fatumo, Palmira Granados Moreno, Chani J. Hodonsky, Michael Inouye, Masahiro Kanai, Kazuto Kato, Bartha M. Knoppers, Anna C. F. Lewis, Alicia R. Martin, Mark I. McCarthy, Michelle N. Meyer, Yukinori Okada, J. Brent Richards, Lucas Richter, Samuli Ripatti, Charles N. Rotimi, Saskia C. Sanderson, Amy C. Sturm, Ricardo A. Verdugo, Elisabeth Widen, Cristen J. Willer, Genevieve L. Wojcik & Alicia Zhou

Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes. JAMA Cardiol. 2021 Sep 8. doi: 10.1001/jamacardio.2021.3370. Epub ahead of print. PMID: 34495297. Yoneda ZT, Anderson KC, Quintana JA, O’Neill MJ, Sims RA, Glazer AM, Shaffer CM, Crawford DM, Stricker T, Ye F, Wells Q, Stevenson LW, Michaud GF, Darbar D, Lubitz SA, Ellinor PT, Roden DM, Shoemaker MB.

Age-Related Prevalence of Rare Disease-Associated Variants in 1293 Patients with Early-Onset Atrial Fibrillation. Heart Rhythm Journal. 2021 Aug 1. doi: 10.1016/j.hrthm.2021.06.946. Yoneda ZT, Anderson KC, Quintana JA, O’Neill MJ, Glazer AM, Shaffer CM, Crawford DM, Stricker T, Wells Q, Stevenson LW, Michaud GF, Darbar D, Lubitz SA, Ellinor PT, Roden DM.

The COVID-19 pandemic and reproductive genetic counseling: Changes in access and service delivery at an academic medical center in the United States. J Genet Couns. 2021 Aug;30(4):958-968. doi: 10.1002/jgc4.1462. Epub 2021 Jul 5. PMID: 34224635; PMCID: PMC8426661. Mann C, Goodhue B, Guillard A, Slamon J, Newman R, Zhao Z, Ding T, Petrelli G, Dudek M.

Pregnancy in cystic fibrosis: Review of the literature and expert recommendations. J Cyst Fibros. 2021 Aug 26:S1569-1993(21)01338-2. doi: 10.1016/j.jcf.2021.07.019. Epub ahead of print. PMID: 34456158.Jain R, Kazmerski TM, Zuckerwise LC, West NE, Montemayor K, Aitken ML, Cheng E, Roe AH, Wilson A, Mann C, Ladores S, Sjoberg J, Poranski M, Taylor-Cousar JL.

One is the loneliest number: genotypic matchmaking using the electronic health record. Genet Med. 2021 Jul 6. doi: 10.1038/s41436-021-01179-w. Epub ahead of print. PMID: 34230636. Brokamp E, Koziura ME, Phillips JA 3rd, Tang LA, Cogan JD, Rives LC, Robertson AK, Duncan L, Bican A, Peterson JF, Newman JH, Hamid R, Bastarache L; Undiagnosed Diseases Network.

Genetic Testing for Early Onset Atrial Arrhythmias Changes Clinical Management: 2 Cases of Cardiac Emerinopathy. JACC Clin Electrophysiol. 2021 Mar;7(3):410-412. doi: 10.1016/j.jacep.2020.11.006. Epub 2021 Jan 27. PMID: 33516708. Yoneda ZT, Anderson KC, Estrada JC, Quintana JA, Strickland T, Montgomery JA, Michaud GF, Roden DM, Shoemaker MB.

Pulmonary Fibrosis Predisposition Overview. 2005 Jan 21 [updated 2021 Feb 11]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. PMID: 20301408. Garcia CK, Talbert JL.

Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis. Am J Med Genet A. 2021 Apr;185(4):1222-1227. doi: 10.1002/ajmg.a.62071. Epub 2021 Jan 8. PMID: 33415784. Smith RB, Solem EP, Metz EC, Wheeler FC, Phillips JA 3rd, Yenamandra A.

Qualitative Methods for Refining a Web-Based Educational Tool for Patients Focused on Inherited Cancer Predisposition. J Cancer Educ. 2021 Jan 5. doi: 10.1007/s13187-020-01929-5. Epub ahead of print. PMID: 33400205. Tezak AL, Zuniga B, Weidner A, Cragun D, Pal T.

A Web-Based Tool to Automate Portions of Pretest Genetic Counseling for Inherited Cancer. J Natl Compr Canc Netw. 2020 Jul;18(7):841-847. doi: 10.6004/jnccn.2020.7546. PMID: 32634774. Cragun D, Weidner A, Tezak A, Zuniga B, Wiesner GL, Pal T.

Breast cancer screening implications of risk modeling among female relatives of ATM and CHEK2 carriers. Cancer. 2020 Apr 15;126(8):1651-1655. doi: 10.1002/cncr.32715. Epub 2020 Jan 22. PMID: 31967672; PMCID: PMC7103510. Weidner AE, Liggin ME, Zuniga BI, Tezak AL, Wiesner GL, Pal T

Student Publications

Class of 2025

Determination of Health Concepts in B-Propeller Protein-Associated Neurodegeneration Emma Kotes, Francesco Gavazzi, Sarah Woidill, Anjana Sevagamoorthy, Eric Yang, Vanessa Smith, Hoily Dubbs, Samuel R. Pierce, Kristy Pucci, Joseph Vithayathil, Nivedita Thakur, LauraA Adang

Class of 2024

Association of Disparities in Family History and Family Cancer History in the Electronic Health Record with Sex, Race, Hispanic or Latino Ethnicity, and Language Preference in 2 Large US Health Care Systems. JAMA Network Open 2022 doi: 10.1001/jamanetworkopen.2022.34574;Daniel Chavez-Yenter, MPH; Melody S. Goodman,PhD;Yuyu Chen, MS; Xiangying Chu, MS; Richard L. Bradshaw, MS, PhD; Rachelle Lorenz Chambers, MS, CGC; Priscilla A. Chan, BS; Brianne M. Daly, BA; Michael Flynn, MD Amanda Gammon, MS, CGC; Rachel Hess, MD; Cecelia Kessler, BS; Wendy K. Kohlmann, MS, CGC; Devin M. Mann, MD; Rachel Monahan, BA; Sara Peel, BA; Kensaku Kawamoto, MD, PhD, MHS; Guilherme Del Fiol, MD, PhD; Meenakshi Sigireddi, MD; Saundra S. Buys, MD; Ophira Ginsburg, MD; Kimberly A. Kaphingst, ScD.

Class of 2023

Attitudes of autistic adults toward genetic testing for autism. Tielle Gallion, Zachary J. Williams, Maria Niarchou, Laura Duncan, Gillian Hooker, Kelly A. Taylor

Class of 2022

Stigma manifestations in cardiomyopathy care impact outcomes for black patients: a qualitative study. Morgan Wolfgang; Laura Beskow; Gillian Hooker; Mya Roberson; Katherine Anderson

Development and Validation of the Vanderbilt PRS-KS, an Instrument to Quantify Polygenic Risk Score Knowledge. Doug Stubbs, Gillian Hooker, Yajing Le, Lucas Richter, Alexander Bick

Class of 2021

Fetal phenotype and diagnosis of autosomal dominant Robinow syndrome due to novel DVL1 variant. Carly M. Smith, Kristi Guinon, Suha Bachir, Christina G. Tise

Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C. Courtney P. Verscaj, Carly Smith, Margaret Homeyer, Dena R. Matalon

What knowledge is required for an informed choice related to non-invasive prenatal screening? Journal of Genetic Counseling. Accepted: 1.24.2023. e-published: 3.5.23. DOI:10.1002/jgc4.1690. Griffin E, Hooker G, Grace M, Kaphingst K, Velez Edwards D, Zhao Z, Slamon J.

Leveraging electronic health records to inform genetic counseling practice surrounding psychiatric disorders. https://doi.org/10.1002/jgc4.1565 Lucas D. Richter, Theordore J. Morley, Gillian W. Hooker, Holly L.Peay, Nancy J. Cox, Douglas M. Ruderfer.