Search Results - "Bennett, Robin L."

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment by Hampel, Heather, Bennett, Robin L., Buchanan, Adam, Pearlman, Rachel, Wiesner, Georgia L.

“…Disclaimer: The practice guidelines of the American College of Medical Genetics and Genomics (ACMG) and the National Society of Genetic Counselors (NSGC) are…”
Get full text

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes by Dorschner, Michael O., Amendola, Laura M., Turner, Emily H., Robertson, Peggy D., Shirts, Brian H., Gallego, Carlos J., Bennett, Robin L., Jones, Kelly L., Tokita, Mari J., Bennett, James T., Kim, Jerry H., Rosenthal, Elisabeth A., Kim, Daniel S., Tabor, Holly K., Bamshad, Michael J., Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom, Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Nickerson, Deborah A., Jarvik, Gail P.

“…The incorporation of genomics into medicine is stimulating interest on the return of incidental findings (IFs) from exome and genome sequencing. However, no…”
Get full text

Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors by Riley, Bronson D., Culver, Julie O., Skrzynia, Cécile, Senter, Leigha A., Peters, June A., Costalas, Josephine W., Callif-Daley, Faith, Grumet, Sherry C., Hunt, Katherine S., Nagy, Rebecca S., McKinnon, Wendy C., Petrucelli, Nancie M., Bennett, Robin L., Trepanier, Angela M.

“…Updated from their original publication in 2004, these cancer genetic counseling recommendations describe the medical, psychosocial, and ethical ramifications…”
Get full text

ColoSeq Provides Comprehensive Lynch and Polyposis Syndrome Mutational Analysis Using Massively Parallel Sequencing by Pritchard, Colin C, Smith, Christina, Salipante, Stephen J, Lee, Ming K, Thornton, Anne M, Nord, Alex S, Gulden, Cassandra, Kupfer, Sonia S, Swisher, Elizabeth M, Bennett, Robin L, Novetsky, Akiva P, Jarvik, Gail P, Olopade, Olufunmilayo I, Goodfellow, Paul J, King, Mary-Claire, Tait, Jonathan F, Walsh, Tom

“…Lynch syndrome (hereditary nonpolyposis colon cancer) and adenomatous polyposis syndromes frequently have overlapping clinical features. Current approaches for…”
Get full text

A New Definition of Genetic Counseling: National Society of Genetic Counselors’ Task Force Report by Resta, Robert, Biesecker, Barbara Bowles, Bennett, Robin L., Blum, Sandra, Estabrooks Hahn, Susan, Strecker, Michelle N., Williams, Janet L.

“…The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that…”
Get full text

Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors by Bennett, Robin L., French, Kathryn Steinhaus, Resta, Robert G., Doyle, Debra Lochner

“…In 1995, the Pedigree Standardization Task Force (PSTF) of the National Society of Genetic Counselors (NSGC) proposed a system of pedigree nomenclature…”
Get full text

Family Studies for Classification of Variants of Uncertain Classification: Current Laboratory Clinical Practice and a New Web-Based Educational Tool by Garrett, Lauren T., Hickman, Nathan, Jacobson, Angela, Bennett, Robin L., Amendola, Laura M., Rosenthal, Elisabeth A., Shirts, Brian H.

“…Multi-gene cancer panels often identify variants of uncertain clinical significance (VUS) that pose a challenge to health care providers in managing a…”
Get full text

Taking an antiracist posture in scientific publications in human genetics and genomics by Brothers, Kyle B., Bennett, Robin L., Cho, Mildred K.

“…From its earliest days, the field of human genetics has had a complex, and at times troubling, connection with racist ideologies. Although the modern field of…”
Get full text

Practice resource‐focused revision: Standardized pedigree nomenclature update centered on sex and gender inclusivity: A practice resource of the National Society of Genetic Counselors by Bennett, Robin L., French, Kathryn Steinhaus, Resta, Robert G., Austin, Jehannine

“…This focused revision builds on the expert opinions from the original publications of ‘Recommendations for human standardized pedigree nomenclature’ published…”
Get full text

Genetic factors for ILD—the path of precision medicine by Raghu, Ganesh, Torres, Juliet M, Bennett, Robin L

Get full text

Targeted long-read sequencing identifies missing disease-causing variation by Miller, Danny E., Sulovari, Arvis, Wang, Tianyun, Loucks, Hailey, Hoekzema, Kendra, Munson, Katherine M., Lewis, Alexandra P., Fuerte, Edith P. Almanza, Paschal, Catherine R., Walsh, Tom, Thies, Jenny, Bennett, James T., Glass, Ian, Dipple, Katrina M., Patterson, Karynne, Bonkowski, Emily S., Nelson, Zoe, Squire, Audrey, Sikes, Megan, Beckman, Erika, Bennett, Robin L., Earl, Dawn, Lee, Winston, Allikmets, Rando, Perlman, Seth J., Chow, Penny, Hing, Anne V., Wenger, Tara L., Adam, Margaret P., Sun, Angela, Lam, Christina, Chang, Irene, Zou, Xue, Austin, Stephanie L., Huggins, Erin, Safi, Alexias, Iyengar, Apoorva K., Reddy, Timothy E., Majoros, William H., Allen, Andrew S., Crawford, Gregory E., Kishnani, Priya S., King, Mary-Claire, Cherry, Tim, Chong, Jessica X., Bamshad, Michael J., Nickerson, Deborah A., Mefford, Heather C., Doherty, Dan, Eichler, Evan E.

“…Despite widespread clinical genetic testing, many individuals with suspected genetic conditions lack a precise diagnosis, limiting their opportunity to take…”
Get full text

Family Health History by Bennett, Robin L., MS, CGC

“…The collection of family history has always been a tool for genetic evaluation, but it remains an essential tool even in the age of genomic medicine. Patients…”
Get full text

Actionable exomic incidental findings in 6503 participants: challenges of variant classification by Amendola, Laura M, Dorschner, Michael O, Robertson, Peggy D, Salama, Joseph S, Hart, Ragan, Shirts, Brian H, Murray, Mitzi L, Tokita, Mari J, Gallego, Carlos J, Kim, Daniel Seung, Bennett, James T, Crosslin, David R, Ranchalis, Jane, Jones, Kelly L, Rosenthal, Elisabeth A, Jarvik, Ella R, Itsara, Andy, Turner, Emily H, Herman, Daniel S, Schleit, Jennifer, Burt, Amber, Jamal, Seema M, Abrudan, Jenica L, Johnson, Andrew D, Conlin, Laura K, Dulik, Matthew C, Santani, Avni, Metterville, Danielle R, Kelly, Melissa, Foreman, Ann Katherine M, Lee, Kristy, Taylor, Kent D, Guo, Xiuqing, Crooks, Kristy, Kiedrowski, Lesli A, Raffel, Leslie J, Gordon, Ora, Machini, Kalotina, Desnick, Robert J, Biesecker, Leslie G, Lubitz, Steven A, Mulchandani, Surabhi, Cooper, Greg M, Joffe, Steven, Richards, C Sue, Yang, Yaoping, Rotter, Jerome I, Rich, Stephen S, O'Donnell, Christopher J, Berg, Jonathan S, Spinner, Nancy B, Evans, James P, Fullerton, Stephanie M, Leppig, Kathleen A, Bennett, Robin L, Bird, Thomas, Sybert, Virginia P, Grady, William M, Tabor, Holly K, Kim, Jerry H, Bamshad, Michael J, Wilfond, Benjamin, Motulsky, Arno G, Scott, C Ronald, Pritchard, Colin C, Walsh, Tom D, Burke, Wylie, Raskind, Wendy H, Byers, Peter, Hisama, Fuki M, Rehm, Heidi, Nickerson, Debbie A, Jarvik, Gail P

“…Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order to investigate the…”
Get full text

Words matter: The language of difference in human genetics by Cho, Mildred K., Duque Lasio, Maria Laura, Amarillo, Ina, Mintz, Kevin Todd, Bennett, Robin L., Brothers, Kyle B.

“…Diversity, equity, and inclusion efforts in academia are leading publishers and journals to re-examine their use of terminology for commonly used scientific…”
Get full text

Medical genetics and genomics education: how do we define success? Where do we focus our resources? by Bennett, Robin L, Waggoner, Darrel, Blitzer, Miriam G

Get full text

Both sides now: Changing a long‐standing pedigree tradition of men on the left and women on the right by Resta, Robert G., French, Kathryn Steinhaus, Bennett, Robin L., Austin, Jehannine

Get full text

Assessing transgender and gender non‐conforming pedigree nomenclature in current genetic counselors’ practice: The case for geometric inclusivity by Sheehan, Elizabeth, Bennett, Robin L., Harris, Miles, Chan‐Smutko, Gayun

“…Healthcare professionals rely on national organizations for guidance; the National Society of Genetic Counselors (NSGC) and the National Comprehensive Cancer…”
Get full text

Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: Variant reclassification and surgical decisions by Murray, Mitzi L, Cerrato, Felecia, Bennett, Robin L, Jarvik, Gail P

“…Purpose: Approximately 5–10% of patients who undergo genetic testing of BRCA1 and BRCA2 receive a variant of unknown significance (VUS) result. The ambiguous…”
Get full text

Improving performance of multigene panels for genomic analysis of cancer predisposition by Shirts, Brian H., Casadei, Silvia, Jacobson, Angela L., Lee, Ming K., Gulsuner, Suleyman, Bennett, Robin L., Miller, Margaret, Hall, Sarah A., Hampel, Heather, Hisama, Fuki M., Naylor, Lorraine V., Goetsch, Cathleen, Leppig, Kathleen, Tait, Jonathan F., Scroggins, Sheena M., Turner, Emily H., Livingston, Robert, Salipante, Stephen J., King, Mary-Claire, Walsh, Tom, Pritchard, Colin C.

“…Purpose: Screening multiple genes for inherited cancer predisposition expands opportunities for cancer prevention; however, reports of variants of uncertain…”
Get full text

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report by Hamamy, Hanan, Antonarakis, Stylianos E, Cavalli-Sforza, Luigi Luca, Temtamy, Samia, Romeo, Giovanni, Kate, Leo P Ten, Bennett, Robin L, Shaw, Alison, Megarbane, Andre, van Duijn, Cornelia, Bathija, Heli, Fokstuen, Siv, Engel, Eric, Zlotogora, Joel, Dermitzakis, Emmanouil, Bottani, Armand, Dahoun, Sophie, Morris, Michael A, Arsenault, Steve, Aglan, Mona S, Ajaz, Mubasshir, Alkalamchi, Ayad, Alnaqeb, Dhekra, Alwasiyah, Mohamed K, Anwer, Nawfal, Awwad, Rawan, Bonnefin, Melissa, Corry, Peter, Gwanmesia, Lorraine, Karbani, Gulshan A, Mostafavi, Maryam, Pippucci, Tommaso, Ranza-Boscardin, Emmanuelle, Reversade, Bruno, Sharif, Saghira M, Teeuw, Marieke E, Bittles, Alan H

“…Approximately 1.1 billion people currently live in countries where consanguineous marriages are customary, and among them one in every three marriages is…”
Get full text