Genetics in Medicine contents: Volume 18, Issue 4

TABLE OF CONTENTS Volume 18, Issue 4 (April 2016) In this issue Research Highlights Review Systematic Review Special Article Commentary Original Research Article Brief Report Letter to the Editor Erratum Podcast Sign in for free ACMG member access Facebook Twitter Subscribe Recommend to your library RSS ACMG Research Highlights Top In This Issue Genet Med 2016 18: 281; 10.1038/gim.2016.38 Full Text News Briefs Genet Med 2016 18: 281-282; 10.1038/gim.2016.41 Full Text Review Top Age-related macular degeneration: genome-wide association studies to translation OPEN James R. M. Black and Simon J. Clark Genet Med 2016 18: 283-289; advance online publication, May 28, 2015; 10.1038/gim.2015.70 Abstract | Full Text Systematic Review Top Health-care professionals’ responsibility to patients’ relatives in genetic medicine: a systematic review and synthesis of empirical research OPEN Sandi Dheensa, Angela Fenwick, Shiri Shkedi-Rafid, Gillian Crawford and Anneke Lucassen Genet Med 2016 18: 290-301; advance online publication, June 25, 2015; 10.1038/gim.2015.72 Abstract | Full Text Special Article Top Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders OPEN Brenda Finucane, Thomas D. Challman, Christa Lese Martin and David H. Ledbetter Genet Med 2016 18: 302-304; advance online publication, July 9, 2015; 10.1038/gim.2015.92 Full Text Commentary Top Individual DNA samples and health information sold by 23andMe Shelin Adam and Jan M. Friedman Genet Med 2016 18: 305-306; advance online publication, June 18, 2015; 10.1038/gim.2015.82 Full Text Is prenatal cytogenetic diagnosis with genomic array indicated in pregnancies at risk for a molecular or metabolic disorder? Malgorzata I. Srebniak, Lutgarde C. P. Govaerts, Karin E. M. Diderich, Marieke Joosten, Femke A. T. de Vries, Robert-Jan H. Galjaard and Diane Van Opstal Genet Med 2016 18: 307-308; advance online publication, July 9, 2015; 10.1038/gim.2015.95 Full Text Original Research Article Top Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure Surabhi Mulchandani, Elizabeth J. Bhoj, Minjie Luo, Nina Powell-Hamilton, Kim Jenny, Karen W. Gripp, Miriam Elbracht, Thomas Eggermann, Claire L. S. Turner, I. Karen Temple, Deborah J. G. Mackay, Holly Dubbs, David A. Stevenson, Leah Slattery, Elaine H. Zackai, Nancy B. Spinner, Ian D. Krantz and Laura K. Conlin Genet Med 2016 18: 309-315; advance online publication, August 6, 2015; 10.1038/gim.2015.103 Abstract | Full Text Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement Ana Margarida Medeiros, Ana Catarina Alves and Mafalda Bourbon Genet Med 2016 18: 316-324; advance online publication, May 28, 2015; 10.1038/gim.2015.71 Abstract | Full Text 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 OPEN Fernando Bellido, Marta Pineda, Gemma Aiza, Rafael Valdés-Mas, Matilde Navarro, Diana A. Puente, Tirso Pons, Sara González, Silvia Iglesias, Esther Darder, Virginia Piñol, José Luís Soto, Alfonso Valencia, Ignacio Blanco, Miguel Urioste, Joan Brunet, Conxi Lázaro, Gabriel Capellá, Xose S. Puente and Laura Valle Genet Med 2016 18: 325-332; advance online publication, July 2, 2015; 10.1038/gim.2015.75 Abstract | Full Text Prevalence of meconium ileus marks the severity of mutations of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene Annie Dupuis, Katherine Keenan, Chee Y. Ooi, Ruslan Dorfman, Marci K. Sontag, Lutz Naehrlich, Carlo Castellani, Lisa J. Strug, Johanna M. Rommens and Tanja Gonska Genet Med 2016 18: 333-340; advance online publication, June 18, 2015; 10.1038/gim.2015.79 Abstract | Full Text Clinical phenotype of the recurrent 1q21.1 copy-number variant Raphael Bernier, Kyle J. Steinman, Beau Reilly, Arianne Stevens Wallace, Elliott H. Sherr, Nicholas Pojman, Heather C. Mefford, Jennifer Gerdts, Rachel Earl, Ellen Hanson, Robin P. Goin-Kochel, Leandra Berry, Stephen Kanne, LeeAnne Green Snyder, Sarah Spence, Melissa B. Ramocki, David W. Evans, John E. Spiro, Christa L. Martin, David H. Ledbetter and Wendy K. Chung ; on behalf of the Simons VIP consortium Genet Med 2016 18: 341-349; advance online publication, June 11, 2015; 10.1038/gim.2015.78 Abstract | Full Text Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome Lily Van, Nancy J. Butcher, Gregory Costain, Lucas Ogura, Eva W. C. Chow and Anne S. Bassett Genet Med 2016 18: 350-355; advance online publication, June 18, 2015; 10.1038/gim.2015.84 Abstract | Full Text Aortic dilation, genetic testing, and associated diagnoses Yuri A. Zarate, Elizabeth Sellars, Tiffany Lepard, Xinyu Tang and R. Thomas Collins, II Genet Med 2016 18: 356-363; advance online publication, July 2, 2015; 10.1038/gim.2015.88 Abstract | Full Text Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort Guney Bademci, Joseph Foster, II, Nejat Mahdieh, Mortaza Bonyadi, Duygu Duman, F.Basak Cengiz, Ibis Menendez, Oscar Diaz-Horta, Atefeh Shirkavand, Sirous Zeinali, Asli Subasioglu, Suna Tokgoz-Yilmaz, Fabiola Huesca-Hernandez, Maria de la Luz Arenas-Sordo, Juan Dominguez-Aburto, Edgar Hernandez-Zamora, Paola Montenegro, Rosario Paredes, Germania Moreta, Rodrigo Vinueza, Franklin Villegas, Santiago Mendoza-Benitez, Shengru Guo, Nazim Bozan, Tulay Tos, Armagan Incesulu, Gonca Sennaroglu, Susan H. Blanton, Hatice Ozturkmen-Akay, Muzeyyen Yildirim-Baylan and Mustafa Tekin Genet Med 2016 18: 364-371; advance online publication, July 30, 2015; 10.1038/gim.2015.89 Abstract | Full Text The time-consuming demands of the practice of medical genetics in the era of advanced genomic testing Rivka Sukenik-Halevy, Mark David Ludman, Shay Ben-Shachar and Annick Raas-Rothschild Genet Med 2016 18: 372-377; advance online publication, July 16, 2015; 10.1038/gim.2015.96 Abstract | Full Text Mutations in JMJD1C are involved in Rett syndrome and intellectual disability OPEN Mauricio A. Sáez, Juana Fernández-Rodríguez, Catia Moutinho, Jose V. Sanchez-Mut, Antonio Gomez, Enrique Vidal, Paolo Petazzi, Karolina Szczesna, Paula Lopez-Serra, Mario Lucariello, Patricia Lorden, Raul Delgado-Morales, Olga J. de la Caridad, Dori Huertas, Josep L. Gelpí, Modesto Orozco, Adriana López-Doriga, Montserrat Milà, Luís A. Perez-Jurado, Mercedes Pineda, Judith Armstrong, Conxi Lázaro and Manel Esteller Genet Med 2016 18: 378-385; advance online publication, July 16, 2015; 10.1038/gim.2015.100 Abstract | Full Text A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias Irini Manoli, Jennifer G. Myles, Jennifer L. Sloan, Oleg A. Shchelochkov and Charles P. Venditti Genet Med 2016 18: 386-395; advance online publication, August 13, 2015; 10.1038/gim.2015.102 Abstract | Full Text A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency Irini Manoli, Jennifer G. Myles, Jennifer L. Sloan, Nuria Carrillo-Carrasco, Eva Morava, Kevin A. Strauss, Holmes Morton and Charles P. Venditti Genet Med 2016 18: 396-404; advance online publication, August 13, 2015; 10.1038/gim.2015.107 Abstract | Full Text Brief Report Top The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers Manon Suerink, Heleen M. van der Klift, Sanne W. ten Broeke, Olaf M. Dekkers, Inge Bernstein, Gabriel Capellá Munar, Encarna Gomez Garcia, Nicoline Hoogerbrugge, Tom G. W. Letteboer, Fred H. Menko, Annika Lindblom, Arjen Mensenkamp, Pal Moller, Theo A. van Os, Nils Rahner, Bert J. W. Redeker, Maran Olderode, Liesbeth Spruijt, Yvonne J. Vos, Anja Wagner, Hans Morreau, Frederik J. Hes, Hans F. A. Vasen, Carli M. Tops, Juul T. Wijnen and Maartje Nielsen Genet Med 2016 18: 405-409; advance online publication, June 25, 2015; 10.1038/gim.2015.83 Abstract | Full Text The current state of cancer genetic counseling access and availability Sara Knapke, Joy Larsen Haidle, Rebecca Nagy and Sara Pirzadeh-Miller Genet Med 2016 18: 410-412; advance online publication, August 6, 2015; 10.1038/gim.2015.98 Abstract | Full Text Letter to the Editor Top Role of medical food in MMA Amy Cunningham, Dianne Frazier, Barbara Marriage, Shideh Mofidi, Beth Ogata, Fran Rohr, Keiko Ueda, Sandra Van Calcar and Steven Yannicelli Genet Med 2016 18: 413-414; advance online publication, March 10, 2016; 10.1038/gim.2016.11 Full Text Response to Cunningham et al. Irini Manoli, Jennifer G. Myles, Jennifer L. Sloan, Oleg A. Shchelochkov and Charles P. Venditti Genet Med 2016 18: 414-415; advance online publication, March 10, 2016; 10.1038/gim.2016.12 Full Text Overcalling secondary findings Leslie G. Biesecker Genet Med 2016 18: 416; advance online publication, March 17, 2016; 10.1038/gim.2016.19 Full Text Response to Biesecker Mi-Ae Jang, Won Park, Namshin Kim and Chang-Seok Ki Genet Med 2016 18: 417; advance online publication, March 10, 2016; 10.1038/gim.2016.20 Full Text Erratum Top ERRATUM: Cystic fibrosis on the African continent Genet Med 2016 18: 418; 10.1038/gim.2015.214 Full Text Podcast Top Podcast FREE Podcast You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant). 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