Søgeresultater

POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance af Fernando Bellido, Marta Pineda, Gemma Aiza, Rafael Valdés‐Mas, Matilde Navarro, Diana Puente, Tirso Pons, Sara González, Sílvia Iglesias, Esther Darder, Virgı́nia Piñol, José Luís Soto, Alfonso Valencia, Ignacio Blanco, Miguel Urioste, Joan Brunet, Conxi Lázaro, Gabriel Capellà, Xosé S. Puente, Laura Valle

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Targeted polymerase chain reaction-based enrichment and next generation sequencing for diagnostic testing of congenital disorders of glycosylation af Melanie A. Jones, Shruti Bhide, Ephrem Chin, Bobby G. Ng, Devin Rhodenizer, Victor Wei Zhang, Jessica Sun, Alice Tanner, Hudson H. Freeze, Madhuri Hegde

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Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer af John M. Carethers

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Multiple Endocrine Neoplasia af Jeffrey A. Norton, Geoffrey W. Krampitz, Robert T. Jensen

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Inherited Cardiomyopathies af Polakit Teekakirikul, Melissa Kelly, Heidi L. Rehm, Neal K. Lakdawala, Birgit H. Funke

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Genetic testing in asymptomatic minors: recommendations of the European Society of Human Genetics af Pascal Borry

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Phelan McDermid Syndrome af Hala Harony‐Nicolas, Silvia De Rubeis, Alexander Kolevzon, Joseph D. Buxbaum

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<i>BRCA1</i> and <i>BRCA2</i> mutations account for a large proportion of ovarian carcinoma cases af Tuya Pal, Jenny Permuth‐Wey, Judith A. Betts, Jeffrey P. Krischer, James V. Fiorica, Hector Arango, James P. LaPolla, Mitchell Hoffman, Martin A Martino, Katie Wakeley, George D. Wilbanks, Santo V. Nicosia, Alan Cantor, Rebecca Sutphen

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Cell‐free fetal DNA: the new tool in fetal medicine af Thomas R. Everett, Lyn S. Chitty

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Prenatal Whole Genome Sequencing af Greer Donley, Sara Chandros Hull, Benjamin E. Berkman

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A first look at women's perspectives on noninvasive prenatal testing to detect sex chromosome aneuploidies and microdeletion syndromes af Patricia K. Agatisa, Mary Beth Mercer, Angela C. Leek, Marissa Smith, Elliot H. Philipson, Ruth M. Farrell

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Pre‐test genetic counseling services for hereditary breast and ovarian cancer delivered by non‐genetics professionals in the state of Florida af Susan T. Vadaparampil, Courtney L. Scherr, Deborah Cragun, Teri L. Malo, Tuya Pal

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Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center’s Experience af C. Alexander Valencia, Ammar Husami, Jennifer Holle, Judith A. Johnson, Yaping Qian, Abhinav Mathur, Chao Wei, Subba Rao Indugula, Fanggeng Zou, Haiying Meng, Lijun Wang, Xia Li, Rachel S. Fisher, Tony Tan, Amber Begtrup, Kathleen Collins, Katie Wusik, Derek Neilson, Thomas Andrew Burrow, Elizabeth K. Schorry, Robert J. Hopkin, Mehdi Keddache, John B. Harley, Kenneth M. Kaufman, Kejian Zhang

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Genetic testing for hereditary melanoma and pancreatic cancer: a longitudinal study of psychological outcome af Lisa G. Aspinwall, Jennifer M. Taber, Samantha L. Leaf, Wendy Kohlmann, Sancy A. Leachman

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Reporting Incidental Findings in Genomic Scale Clinical Sequencing—A Clinical Laboratory Perspective af Madhuri Hegde, Sherri J. Bale, Pınar Bayrak‐Toydemir, Jane Whitney Gibson, Linda Jo Bone Jeng, Loren Joseph, Jordan Laser, Ira M. Lubin, Christine E. Miller, Lainie Friedman Ross, Paul G. Rothberg, Alice Tanner, Patrik Vitazka, Rong Mao

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Medical Mistrust Influences Black Women’s Level of Engagement in BRCA1/2 Genetic Counseling and Testing af Vanessa B. Sheppard, Darren Mays, Kenneth P. Tercyak, Thomas A. LaVeist

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Parent decision‐making around the genetic testing of children for germline <i>TP53</i> mutations af Melissa A. Alderfer, Kristin Zelley, Robert B. Lindell, Ana Novokmet, L. Phuong, Judy E. Garber, Deepika Nathan, Sarah Scollon, Nicolette M. Chun, Andrea Farkas Patenaude, James M. Ford, Sharon E. Plon, Joshua D. Schiffman, Lisa Diller, Sharon A. Savage, David Malkin, Carol A. Ford, Kim E. Nichols

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Nationwide demonstration project of next‐generation sequencing of cell‐free DNA in maternal plasma in Japan: 1‐year experience af Haruhiko Sago, Akihiko Sekizawa

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Editorial: Pancreas Divisum Does Not Cause Pancreatitis, But Associates With CFTR Mutations af Matthew DiMagno, Eugene P. DiMagno

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Presence of c.3956delC mutation in familial adenomatous polyposis patients from Brazil af Caroline Aquino Moreira-Nunes, Diego Di Felipe Ávila Alcântara, Sérgio Figueiredo Lima-Júnior, Sandro Roberto de Araújo Cavalléro, Juan A. Rey, Giovanny R. Pinto, Paulo Pimentel de Assumpção, Rommel Mário Rodríguez Burbano

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