Population genetic screening: current issues in a European country Laurent Pasquier, Bertrand Isidor, Emmanuelle Rial-Sebbag, Sylvie Odent, Guy Minguet et al.  European Journal of Human Genetics 2019 27 :1321 - 1323; May 08, 2019; 10.1038/s41431-019-0425-2 Abstract | Full Text
CORRESPONDENCE
The destructive role of Trofim Lysenko in Russian Science Semyon Reznik & Victor Fet  European Journal of Human Genetics 2019 27 :1324 - 1325; May 14, 2019; 10.1038/s41431-019-0422-5 Abstract | Full Text
POLICY
Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes Jasmin Beygo, Karin Buiting, Simon C. Ramsden, Rachael Ellis, Jill Clayton-Smith et al.  European Journal of Human Genetics 2019 27 :1326 - 1340; June 24, 2019; 10.1038/s41431-019-0435-0 Abstract | Full Text
ARTICLE
Informing relatives at risk of inherited cardiac conditions: experiences and attitudes of healthcare professionals and counselees Lieke M. van den Heuvel, Mette J. Huisinga, Yvonne M. Hoedemaekers, Annette F. Baas, Mirjam Plantinga et al.  European Journal of Human Genetics 2019 27 :1341 - 1350; May 03, 2019; 10.1038/s41431-019-0410-9 Abstract | Full Text
Trends in BRCA testing and socioeconomic deprivation Antony P. Martin, Gabriel Pedra, Jennifer Downing, Brendan Collins, Brian Godman et al.  European Journal of Human Genetics 2019 27 :1351 - 1360; May 03, 2019; 10.1038/s41431-019-0424-3 Abstract | Full Text
Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome Eugenio Sangiorgi, Alessia Azzarà, Clelia Molinario, Roberta Pietrobono, Donato Rigante et al.  European Journal of Human Genetics 2019 27 :1361 - 1368; May 03, 2019; 10.1038/s41431-019-0421-6 Abstract | Full Text
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Marcello Bellusci, Ana Martínez de Aragón, Laura Hernández-Sánchez et al.  European Journal of Human Genetics 2019 27 :1369 - 1378; May 03, 2019; 10.1038/s41431-019-0418-1 Abstract | Full Text
Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases Patrick R. Blackburn, Cinthya J. Zepeda-Mendoza, Teresa M. Kruisselbrink, Lisa A. Schimmenti, Sixto García-Miñaur et al.  European Journal of Human Genetics 2019 27 :1379 - 1388; May 03, 2019; 10.1038/s41431-019-0423-4 Abstract | Full Text
Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing Swati Tomar, Raman Sethi & Poh San Lai  European Journal of Human Genetics 2019 27 :1389 - 1397; May 03, 2019; 10.1038/s41431-019-0412-7 Abstract | Full Text
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes Klaus Schmitz-Abe, Qifei Li, Samantha M. Rosen, Neeharika Nori, Jill A. Madden et al.  European Journal of Human Genetics 2019 27 :1398 - 1405; April 12, 2019; 10.1038/s41431-019-0401-x Abstract | Full Text
LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2 Alessia Peretti, Maud Perie, Didier Vincent, Françoise Bouhour, Klaus Dieterich et al.  European Journal of Human Genetics 2019 27 :1406 - 1418; April 17, 2019; 10.1038/s41431-019-0403-8 Abstract | Full Text
Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy Ruth Sheffer, Michal Gur, Rebecca Brooks, Somaya Salah, Muhannad Daana et al.  European Journal of Human Genetics 2019 27 :1419 - 1426; April 11, 2019; 10.1038/s41431-019-0400-y Abstract | Full Text
Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts Christian Paludan-Müller, Jonas Ghouse, Oliver B. Vad, Cecilie B. Herfelt, Pia Lundegaard et al.  European Journal of Human Genetics 2019 27 :1427 - 1435; May 01, 2019; 10.1038/s41431-019-0416-3 Abstract | Full Text
Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions Alejandra Vergara-Lope, Sarah Ennis, Igor Vorechovsky, Reuben J. Pengelly & Andrew Collins  European Journal of Human Genetics 2019 27 :1436 - 1444; May 03, 2019; 10.1038/s41431-019-0419-0 Abstract | Full Text
Immunity and mental illness: findings from a Danish population-based immunogenetic study of seven psychiatric and neurodevelopmental disorders Ron Nudel, Michael E. Benros, Morten Dybdahl Krebs, Rosa Lundbye Allesøe, Camilla Koldbæk Lemvigh et al.  European Journal of Human Genetics 2019 27 :1445 - 1455; April 11, 2019; 10.1038/s41431-019-0402-9 Abstract | Full Text
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry Imen Chakchouk, Di Zhang, Zhihui Zhang, Laurent C. Francioli, Regie Lyn P. Santos-Cortez et al.  European Journal of Human Genetics 2019 27 :1456 - 1465; May 03, 2019; 10.1038/s41431-019-0417-2 Abstract | Full Text
Y-chromosomal analysis of clan structure of Kalmyks, the only European Mongol people, and their relationship to Oirat-Mongols of Inner Asia Natalia Balinova, Helen Post, Alena Kushniarevich, Rodrigo Flores, Monika Karmin et al.  European Journal of Human Genetics 2019 27 :1466 - 1474; April 11, 2019; 10.1038/s41431-019-0399-0 Abstract | Full Text