European Journal of Human Genetics - Table of Contents alert Volume 24 Issue 3

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TABLE OF CONTENTS Volume 24, Issue 3 (March 2016) In this issue Policy Review Letters Articles Short Reports Book Review Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Visit us at the American College of Medical Genetics and Genomics (ACMG) Annual Meeting  Pick up complimentary copies of Genetics in Medicine and other top Nature journals at booth #826 in Tampa, Florida — March 8-12th. We will also have free giveaways and an opportunity to hear the latest GenePod from Editor-in-Chief Jim Evans talking about the ACMG 25th anniversary. Find out more. Policy Top Embryonic stem cell patents at European top courtEJHGOPEN André den Exter Eur J Hum Genet 2016 24: 311; advance online publication, July 1, 2015; 10.1038/ejhg.2015.98 Full Text Development of a registration system for genetic counsellors and nurses in health-care services in EuropeEJHGOPEN Milena Paneque, Ramona Moldovan, Christophe Cordier, Clara Serra-Juhé, Irene Feroce, Debby Lambert, Inga Bjørnevoll and Heather Skirton Eur J Hum Genet 2016 24: 312-314; advance online publication, November 4, 2015; 10.1038/ejhg.2015.234 Full Text Review Top How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence Álvaro Mendes, Milena Paneque, Liliana Sousa, Angus Clarke and Jorge Sequeiros Eur J Hum Genet 2016 24: 315-325; advance online publication, August 12, 2015; 10.1038/ejhg.2015.174 Abstract | Full Text Letters Top On the use of Chinese population as a proxy of Amerindian ancestors in genetic admixture studies with Latin American populations Ronald R de Moura, Valdir de Queiroz Balbino, Sergio Crovella and Lucas A C Brandão Eur J Hum Genet 2016 24: 326-327; advance online publication, September 2, 2015; 10.1038/ejhg.2015.184 Full Text Reply to Moura et al Thiago Magalhães da Silva, MR Sandhya Rani, Gustavo Nunes de Oliveira Costa, Maurício L Barreto and Ronald E Blanton Eur J Hum Genet 2016 24: 328; advance online publication, September 2, 2015; 10.1038/ejhg.2015.185 Full Text Postmortem medicolegal genetic diagnostics also require reporting guidance Antti Sajantila and Bruce Budowle Eur J Hum Genet 2016 24: 329-330; advance online publication, December 3, 2014; 10.1038/ejhg.2014.247 Full Text Reply to Sajantila and Budowle David E Barton, Mireille Claustres, Viktor Kozich, Els Dequeker, Brian Fowler, Jayne Y Hehir-Kwa, Konstantin Miller, Cor Oosterwijk, Borut Peterlin, Conny van Ravenswaaij-Arts, Uwe Zimmermann, Orsetta Zuffardi and Rosalind J Hastings Eur J Hum Genet 2016 24: 330; advance online publication, January 14, 2015; 10.1038/ejhg.2014.290 Full Text Articles Top Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling Lea Godino, Eva Pompilii, Federica D'Anna, Antonio M Morselli-Labate, Elena Nardi, Marco Seri, Nicola Rizzo, Gianluigi Pilu and Daniela Turchetti Eur J Hum Genet 2016 24: 331-337; advance online publication, May 27, 2015; 10.1038/ejhg.2015.116 Abstract | Full Text Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project Sylviane Darquy, Grégoire Moutel, Anne-Sophie Lapointe, Diane D'Audiffret, Julie Champagnat, Samia Guerroui, Marie-Louise Vendeville, Odile Boespflug-Tanguy and Nathalie Duchange Eur J Hum Genet 2016 24: 338-343; advance online publication, June 17, 2015; 10.1038/ejhg.2015.115 Abstract | Full Text Compare and contrast: a cross-national study across UK, USA and Greek experts regarding return of incidental findings from clinical sequencing Elli G Gourna, Natalie Armstrong and Susan E Wallace Eur J Hum Genet 2016 24: 344-349; advance online publication, June 10, 2015; 10.1038/ejhg.2015.132 Abstract | Full Text Genetic counsellors in Sweden: their role and added value in the clinical setting Rebecka Pestoff, Charlotta Ingvoldstad and Heather Skirton Eur J Hum Genet 2016 24: 350-355; advance online publication, May 27, 2015; 10.1038/ejhg.2015.110 Abstract | Full Text Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication Jan Hodgson, Sylvia Metcalfe, Clara Gaff, Susan Donath, Martin B Delatycki, Ingrid Winship, Loane Skene, MaryAnne Aitken and Jane Halliday Eur J Hum Genet 2016 24: 356-360; advance online publication, July 1, 2015; 10.1038/ejhg.2015.122 Abstract | Full Text Preferences for genetic testing for colorectal cancer within a population-based screening program: a discrete choice experiment Jorien Veldwijk, Mattijs S Lambooij, Frank G J Kallenberg, Henk J van Kranen, Annelien L Bredenoord, Evelien Dekker, Henriëtte A Smit and G Ardine de Wit Eur J Hum Genet 2016 24: 361-366; advance online publication, June 3, 2015; 10.1038/ejhg.2015.117 Abstract | Full Text Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content Claudio Asencio, María A Rodríguez-Hernandez, Paz Briones, Julio Montoya, Ana Cortés, Sonia Emperador, Angela Gavilán, Eduardo Ruiz-Pesini, Dèlia Yubero, Raquel Montero, Mercedes Pineda, María M O'Callaghan, María Alcázar-Fabra, Leonardo Salviati, Rafael Artuch and Plácido Navas Eur J Hum Genet 2016 24: 367-372; advance online publication, May 27, 2015; 10.1038/ejhg.2015.112 Abstract | Full Text Xp11.2 microduplications including IQSEC2, TSPYL2 and KDM5C genes in patients with neurodevelopmental disorders Ching Moey, Susan J Hinze, Louise Brueton, Jenny Morton, Dominic J McMullan, Benjamin Kamien, Christopher P Barnett, Nicola Brunetti-Pierri, Jillian Nicholl, Jozef Gecz and Cheryl Shoubridge Eur J Hum Genet 2016 24: 373-380; advance online publication, June 10, 2015; 10.1038/ejhg.2015.123 Abstract | Full Text Myelination-related genes are associated with decreased white matter integrity in schizophrenia Ivan Chavarria-Siles, Tonya White, Christiaan de Leeuw, Andrea Goudriaan, Esther Lips, Stefan Ehrlich, Jessica A Turner, Vince D Calhoun, Randy L Gollub, Vincent A Magnotta, Beng-Choon Ho, August B Smit, Mark HG Verheijen and Danielle Posthuma Eur J Hum Genet 2016 24: 381-386; advance online publication, May 27, 2015; 10.1038/ejhg.2015.120 Abstract | Full Text Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome Xue Jun Fu, Kandai Nozu, Hiroshi Kaito, Takeshi Ninchoji, Naoya Morisada, Koichi Nakanishi, Norishige Yoshikawa, Hiromi Ohtsubo, Natsuki Matsunoshita, Naohiro Kamiyoshi, Chieko Matsumura, Nobuaki Takagi, Kohei Maekawa, Mariko Taniguchi-Ikeda and Kazumoto Iijima Eur J Hum Genet 2016 24: 387-391; advance online publication, May 27, 2015; 10.1038/ejhg.2015.113 Abstract | Full Text Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration Zafar Iqbal, Lucia Püttmann, Luciana Musante, Attia Razzaq, Muhammad Yasir Zahoor, Hao Hu, Thomas F Wienker, Masoud Garshasbi, Zohreh Fattahi, Christian Gilissen, Lisenka ELM Vissers, Arjan PM de Brouwer, Joris A Veltman, Rolph Pfundt, Hossein Najmabadi, Hans-Hilger Ropers, Sheikh Riazuddin, Kimia Kahrizi and Hans van Bokhoven Eur J Hum Genet 2016 24: 392-399; advance online publication, July 15, 2015; 10.1038/ejhg.2015.148 Abstract | Full Text SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies Véronique Bissay, Sophie CH Van Malderen, Kathelijn Keymolen, Willy Lissens, Uschi Peeters, Dorien Daneels, Anna C Jansen, Gudrun Pappaert, Pedro Brugada, Jacques De Keyser and Sonia Van Dooren Eur J Hum Genet 2016 24: 400-407; advance online publication, June 3, 2015; 10.1038/ejhg.2015.125 Abstract | Full Text Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function Hirotsugu Oda, Tatsuhiro Sato, Shinji Kunishima, Kenji Nakagawa, Kazushi Izawa, Eitaro Hiejima, Tomoki Kawai, Takahiro Yasumi, Hiraku Doi, Kenji Katamura, Hironao Numabe, Shinya Okamoto, Hiroshi Nakase, Atsushi Hijikata, Osamu Ohara, Hidenori Suzuki, Hiroko Morisaki, Takayuki Morisaki, Hiroyuki Nunoi, Seisuke Hattori, Ryuta Nishikomori and Toshio Heike Eur J Hum Genet 2016 24: 408-414; advance online publication, June 10, 2015; 10.1038/ejhg.2015.119 Abstract | Full Text Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations Petra Dusatkova, Roland Pfäffle, Milton R Brown, Natallia Akulevich, Ivo JP Arnhold, Maria A Kalina, Karolina Kot, Ciril Krzisnik, Manuel C Lemos, Jana Malikova, Ruta Navardauskaite, Barbora Obermannova, Zuzana Pribilincova, Agnes Sallai, Gordana Stipancic, Rasa Verkauskiene, Ondrej Cinek, Werner F Blum, John S Parks, Frederic Austerlitz and Jan Lebl Eur J Hum Genet 2016 24: 415-420; advance online publication, June 10, 2015; 10.1038/ejhg.2015.126 Abstract | Full Text Genome-wide gene–gene interaction analysis for next-generation sequencing Jinying Zhao, Yun Zhu and Momiao Xiong Eur J Hum Genet 2016 24: 421-428; advance online publication, July 15, 2015; 10.1038/ejhg.2015.147 Abstract | Full Text The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily Sergio Tofanelli, Francesca Brisighelli, Paolo Anagnostou, George B J Busby, Gianmarco Ferri, Mark G Thomas, Luca Taglioli, Igor Rudan, Tatijana Zemunik, Caroline Hayward, Deborah Bolnick, Valentino Romano, Francesco Cali, Donata Luiselli, Gillian B Shepherd, Sebastiano Tusa, Antonino Facella and Cristian Capelli Eur J Hum Genet 2016 24: 429-436; advance online publication, July 15, 2015; 10.1038/ejhg.2015.124 Abstract | Full Text New clues to the evolutionary history of the main European paternal lineage M269: dissection of the Y-SNP S116 in Atlantic Europe and Iberia Laura Valverde, Maria José Illescas, Patricia Villaescusa, Amparo M Gotor, Ainara García, Sergio Cardoso, Jaime Algorta, Susana Catarino, Karen Rouault, Claude Férec, Orla Hardiman, Maite Zarrabeitia, Susana Jiménez, Maria Fátima Pinheiro, Begoña M Jarreta, Jill Olofsson, Niels Morling and Marian M de Pancorbo Eur J Hum Genet 2016 24: 437-441; advance online publication, June 17, 2015; 10.1038/ejhg.2015.114 Abstract | Full Text Ladakh, India: the land of high passes and genetic heterogeneity reveals a confluence of migrations Diane J Rowold, David Perez Benedico, Ralph Garcia-Bertrand, Shilpa Chennakrishnaiah, Miguel A Alfonso-Sanchez, Tenzin Gayden and Rene J Herrera Eur J Hum Genet 2016 24: 442-449; advance online publication, May 13, 2015; 10.1038/ejhg.2015.80 Abstract | Full Text Short Reports Top Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9 Katharina Danhauser, Diran Herebian, Tobias B Haack, Richard J Rodenburg, Tim M Strom, Thomas Meitinger, Dirk Klee, Ertan Mayatepek, Holger Prokisch and Felix Distelmaier Eur J Hum Genet 2016 24: 450-454; advance online publication, June 17, 2015; 10.1038/ejhg.2015.133 Abstract | Full Text A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy Lam Son Nguyen, Taiane Schneider, Marlène Rio, Sébastien Moutton, Karine Siquier-Pernet, Florine Verny, Nathalie Boddaert, Isabelle Desguerre, Arnold Munich, José Luis Rosa, Valérie Cormier-Daire and Laurence Colleaux Eur J Hum Genet 2016 24: 455-458; advance online publication, July 8, 2015; 10.1038/ejhg.2015.140 Abstract | Full Text Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation Anja K Mayer, Klaus Rohrschneider, Tim M Strom, Nicola Glöckle, Susanne Kohl, Bernd Wissinger and Nicole Weisschuh Eur J Hum Genet 2016 24: 459-462; advance online publication, July 8, 2015; 10.1038/ejhg.2015.144 Abstract | Full Text A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease Daria Diodato, Giorgio Tasca, Daniela Verrigni, Adele D'Amico, Teresa Rizza, Giulia Tozzi, Diego Martinelli, Margherita Verardo, Federica Invernizzi, Alessia Nasca, Emanuele Bellacchio, Daniele Ghezzi, Fiorella Piemonte, Carlo Dionisi-Vici, Rosalba Carrozzo and Enrico Bertini Eur J Hum Genet 2016 24: 463-466; advance online publication, July 15, 2015; 10.1038/ejhg.2015.141 Abstract | Full Text Book Review Top An update of a classical textbook Ulf Kristoffersson Eur J Hum Genet 2016 24: 467; 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