European Journal of Human Genetics

Responsible implementation of expanded carrier screening

Responsible implementation of expanded carrier screening

European Journal of Human Genetics 24, e1 (June 2016). doi:10.1038/ejhg.2015.271

Authors: Lidewij Henneman, Pascal Borry, Davit Chokoshvili, Martina C Cornel, Carla G van El, Francesca Forzano, Alison Hall, Heidi C Howard, Sandra Janssens, Hülya Kayserili, Phillis Lakeman, Anneke Lucassen, Sylvia A Metcalfe, Lovro Vidmar, Guido de Wert, Wybo J Dondorp & Borut Peterlin

Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

European Journal of Human Genetics 24, 784 (June 2016). doi:10.1038/ejhg.2015.224

Authors: Thomas Eggermann, Frédéric Brioude, Silvia Russo, Maria P Lombardi, Jet Bliek, Eamonn R Maher, Lidia Larizza, Dirk Prawitt, Irène Netchine, Marie Gonzales, Karen Grønskov, Zeynep Tümer, David Monk, Marcel Mannens, Krystyna Chrzanowska, Malgorzata K Walasek, Matthias Begemann, Lukas Soellner, Katja Eggermann, Jair Tenorio, Julián Nevado, Gudrun E Moore, Deborah JG Mackay, Karen Temple, Gabriele Gillessen-Kaesbach, Tsutomu Ogata, Rosanna Weksberg, Elizabeth Algar & Pablo Lapunzina

Developing an intervention to facilitate family communication about inherited genetic conditions, and training genetic counsellors in its delivery

Developing an intervention to facilitate family communication about inherited genetic conditions, and training genetic counsellors in its delivery

European Journal of Human Genetics 24, 794 (June 2016). doi:10.1038/ejhg.2015.215

Authors: The Socio-Psychological Research in Genomics (SPRinG) Collaboration:, Ivan Eisler, Matthew Ellison, Frances Flinter, Jo Grey, Suzanne Hutchison, Carole Jackson, Louise Longworth, Rhona MacLeod, Marion McAllister, Alison Metcalfe, Trevor Murrells, Christine Patch, Stuart Pritchard, Glenn Robert, Emma Rowland & Fiona Ulph

Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases

Genetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases

European Journal of Human Genetics 24, 817 (June 2016). doi:10.1038/ejhg.2015.198

Authors: Christin Loeth Hertz, Sofie Lindgren Christiansen, Maiken Kudahl Larsen, Morten Dahl, Laura Ferrero-Miliani, Peter Ejvin Weeke, Oluf Pedersen, Torben Hansen, Niels Grarup, Gyda Lolk Ottesen, Rune Frank-Hansen, Jytte Banner & Niels Morling

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling

European Journal of Human Genetics 24, 823 (June 2016). doi:10.1038/ejhg.2015.214

Authors: Titis Widowati, Shamiram Melhem, Suryono Y Patria, Bianca M de Graaf, Richard J Sinke, Martijn Viel, Jos Dijkhuis, Ahmad H Sadewa, Rochadi Purwohardjono, Yati Soenarto, Robert MW Hofstra & Yunia Sribudiani

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

European Journal of Human Genetics 24, 830 (June 2016). doi:10.1038/ejhg.2015.202

Authors: Sophie Nambot, Alice Masurel, Salima El Chehadeh, Anne-Laure Mosca-Boidron, Christel Thauvin-Robinet, Mathilde Lefebvre, Nathalie Marle, Julien Thevenon, Stéphanie Perez-Martin, Véronique Dulieu, Frédéric Huet, Ghislaine Plessis, Joris Andrieux, Pierre-Simon Jouk, Gipsy Billy-Lopez, Charles Coutton, Fanny Morice-Picard, Marie-Ange Delrue, Delphine Heron, Caroline Rooryck, Alice Goldenberg, Pascale Saugier-Veber, Géraldine Joly-Hélas, Patricia Calenda, Paul Kuentz, Sylvie Manouvrier-Hanu, Sophie Dupuis-Girod, Patrick Callier & Laurence Faivre

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

European Journal of Human Genetics 24, 838 (June 2016). doi:10.1038/ejhg.2015.211

Authors: Anne-Laure Mosca-Boidron, Lucie Gueneau, Guillaume Huguet, Alice Goldenberg, Céline Henry, Nadège Gigot, Emilie Pallesi-Pocachard, Antonio Falace, Laurence Duplomb, Julien Thevenon, Yannis Duffourd, Judith ST-Onge, Pascal Chambon, Jean-Baptiste Rivière, Christel Thauvin-Robinet, Patrick Callier, Nathalie Marle, Muriel Payet, Clemence Ragon, Hany Goubran Botros, Julien Buratti, Sophie Calderari, Guillaume Dumas, Richard Delorme, Nathalie Lagarde, Jean-Michel Pinoit, Antoine Rosier, Alice Masurel-Paulet, Carlos Cardoso, Francine Mugneret, Pascale Saugier-Veber, Dominique Campion, Laurence Faivre & Thomas Bourgeron

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH

European Journal of Human Genetics 24, 844 (June 2016). doi:10.1038/ejhg.2015.219

Authors: Céline Poirsier, Justine Besseau-Ayasse, Caroline Schluth-Bolard, Jérôme Toutain, Chantal Missirian, Cédric Le Caignec, Anne Bazin, Marie Christine de Blois, Paul Kuentz, Marie Catty, Agnès Choiset, Ghislaine Plessis, Audrey Basinko, Pascaline Letard, Elisabeth Flori, Mélanie Jimenez, Mylène Valduga, Emilie Landais, Hakima Lallaoui, François Cartault, James Lespinasse, Dominique Martin-Coignard, Patrick Callier, Céline Pebrel-Richard, Marie-France Portnoi, Tiffany Busa, Aline Receveur, Florence Amblard, Catherine Yardin, Radu Harbuz, Fabienne Prieur, Nathalie Le Meur, Eva Pipiras, Pascale Kleinfinger, François Vialard & Martine Doco-Fenzy

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing

Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing

European Journal of Human Genetics 24, 857 (June 2016). doi:10.1038/ejhg.2015.200

Authors: David S Lynch, Georgios Koutsis, Arianna Tucci, Marios Panas, Markella Baklou, Marianthi Breza, Georgia Karadima & Henry Houlden

Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/− patients and in foxg1+/− mice

Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1+/− patients and in foxg1+/− mice

European Journal of Human Genetics 24, 871 (June 2016). doi:10.1038/ejhg.2015.216

Authors: Tommaso Patriarchi, Sonia Amabile, Elisa Frullanti, Elisa Landucci, Caterina Lo Rizzo, Francesca Ariani, Mario Costa, Francesco Olimpico, Johannes W Hell, Flora M Vaccarino, Alessandra Renieri & Ilaria Meloni

BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study

BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study

European Journal of Human Genetics 24, 881 (June 2016). doi:10.1038/ejhg.2015.196

Authors: Hildegunn Høberg-Vetti, Cathrine Bjorvatn, Bent E Fiane, Turid Aas, Kathrine Woie, Helge Espelid, Tone Rusken, Hans Petter Eikesdal, Wenche Listøl, Marianne T Haavind, Per M Knappskog, Bjørn Ivar Haukanes, Vidar M Steen & Nicoline Hoogerbrugge

A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome

A recessive form of extreme macrocephaly and mild intellectual disability complements the spectrum of PTEN hamartoma tumour syndrome

European Journal of Human Genetics 24, 889 (June 2016). doi:10.1038/ejhg.2015.209

Authors: Tobias Schwerd, Andrea V Khaled, Manfred Schürmann, Hannah Chen, Norman Händel, André Reis, Gabriele Gillessen-Kaesbach, Holm H Uhlig & Rami Abou Jamra

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

European Journal of Human Genetics 24, 911 (June 2016). doi:10.1038/ejhg.2015.221

Authors: Julien Thevenon, Céline Souchay, Gail K Seabold, Inna Dygai-Cochet, Patrick Callier, Sébastien Gay, Lucie Corbin, Laurence Duplomb, Christel Thauvin-Robinet, Alice Masurel-Paulet, Salima El Chehadeh, Magali Avila, Delphine Minot, Eric Guedj, Sophie Chancenotte, Marlène Bonnet, Daphne Lehalle, Ya-Xian Wang, Paul Kuentz, Frédéric Huet, Anne-Laure Mosca-Boidron, Nathalie Marle, Ronald S Petralia & Laurence Faivre

Pages