Browsing by Author "Torres-Martinez, Wilfredo"

Now showing 1 - 3 of 3
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    A brother and sister with the same karyotype: Case report of two siblings with partial 3p duplication and partial 9p deletion and sex reversal
    (Wiley, 2021-05-06) Selby, Susan Cordes; Iwata-Otsubo, Aiko; Delk, Paula; Nebesio, Todd D.; Gohil, Anisha; Matlock, Peggy; Torres-Martinez, Wilfredo; Vance, Gail H.; Medical and Molecular Genetics, School of Medicine
    Two siblings with the same male unbalanced karyotype demonstrate sex reversal. The older sib appeared phenotypically female and the younger sib demonstrated a male gender. The female had gonadal dysgenesis with bilateral ovatestes. The male had bilateral testes. The report discusses the phenotypical differences and genes associated with sex reversal.
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    Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer
    (Springer Nature, 2022-08-25) Horton, Carolyn; Cass, Ashley; Conner, Blair R.; Hoang, Lily; Zimmermann, Heather; Abualkheir, Nelly; Burks, David; Qian, Dajun; Molparia, Bhuvan; Vuong, Huy; LaDuca, Holly; Grzybowski, Jessica; Durda, Kate; Pilarski, Robert; Profato, Jessica; Clayback, Katherine; Mahoney, Martin; Schroeder, Courtney; Torres-Martinez, Wilfredo; Elliott, Aaron; Chao, Elizabeth C.; Karam, Rachid; Medical and Molecular Genetics, School of Medicine
    DNA germline genetic testing can identify individuals with cancer susceptibility. However, DNA sequencing alone is limited in its detection and classification of mRNA splicing variants, particularly those located far from coding sequences. Here we address the limitations of splicing variant identification and interpretation by pairing DNA and RNA sequencing and describe the mutational and splicing landscape in a clinical cohort of 43,524 individuals undergoing genetic testing for hereditary cancer predisposition.
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    Positive and Negative Professionalism Experiences of Genetic Counseling Students in the United States and Canada
    (Wiley, 2021) Aamodt, Pauline; Wetherill, Leah; Delk, Paula; Torres-Martinez, Wilfredo; Vance, Gail H.; Wesson, Melissa; Medical and Molecular Genetics, School of Medicine
    Many aspects of genetic counseling training programs have been examined over the years. However, no study has explored professional or unprofessional behaviors genetic counseling graduate students experience during their training, and how these behaviors influence satisfaction with their training. This exploratory study examined students' experiences with program leaders, instructors, supervisors, and other trainees. Specific experiences included actions of favoritism, bias, negativity, abuse of power, and examples of positive role modeling. A survey was sent to all members of the National Society of Genetic Counselors and program directors in order to reach graduates of Accreditation Council for Genetic Counseling (ACGC)-accredited programs from 2015-2019 who were eligible to participate. Responses to questions relating to demographics, satisfaction with graduate education, behaviors experienced or seen during graduate school, and reporting of inappropriate behaviors were collected and analyzed. Results demonstrated that 95% of the genetic counseling graduates were highly satisfied with their graduate education and those who experienced inappropriate behaviors during their training were somewhat less satisfied (p = .04). Individuals who felt more prepared by their graduate education were more satisfied with their graduate education (p < .01). Being publicly embarrassed or humiliated, being made to feel like a burden in clinic, or being subjected to negative or offensive behavior based on their personal beliefs or personal characteristics (excluding areas of gender, race/ethnicity, or sexual orientation) were all negatively associated with satisfaction (all p < .04). We conclude that this survey could serve as a "Genetic Counseling Training Experiences Assessment" which could be incorporated into annual evaluations required by the ACGC. Implementation of this assessment would enhance the current evaluations of genetic counseling training programs and provide important information regarding student experiences during their training.