European Journal of Human Genetics - Table of Contents alert Volume 26 Issue n10

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TABLE OF CONTENTS Volume 26, Issue 10 In this issue Editorial Review Article Article Brief Communication Book Review Also new AOP   Editorial Pharmacogenomics, a novel section in the European Journal of Human Genetics Henk-Jan Guchelaar European Journal of Human Genetics 2018 26 :1399 - 1400; July 02, 2018; 10.1038/s41431-018-0205-4   Abstract | Full Text Review Article A theory-informed systematic review of clinicians’ genetic testing practices Jean L. Paul, Hanna Leslie, Alison H. Trainer & Clara Gaff European Journal of Human Genetics 2018 26 :1401 - 1416; June 11, 2018; 10.1038/s41431-018-0190-7   Abstract | Full Text Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD) Erika K. S. M. Leenders, Harm Westdorp, Roger J. Brüggemann, Jan Loeffen, Christian Kratz et al. European Journal of Human Genetics 2018 26 :1417 - 1423; June 14, 2018; 10.1038/s41431-018-0197-0   Abstract | Full Text Article Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate Marlies Saelaert, Heidi Mertes, Elfride De Baere & Ignaas Devisch European Journal of Human Genetics 2018 26 :1424 - 1431; July 03, 2018; 10.1038/s41431-018-0200-9   Abstract | Full Text Differences in attitudes toward genetic testing among the public, patients, and health-care professionals in Korea Heesang Eum, Mangyeong Lee, Junghee Yoon, Juhee Cho, Eun Sook Lee et al. European Journal of Human Genetics 2018 26 :1432 - 1440; June 18, 2018; 10.1038/s41431-018-0191-6   Abstract | Full Text Knockdown of Crispld2 in zebrafish identifies a novel network for nonsyndromic cleft lip with or without cleft palate candidate genes Brett T Chiquet, Qiuping Yuan, Eric C. Swindell, Lorena Maili, Robert Plant et al. European Journal of Human Genetics 2018 26 :1441 - 1450; June 13, 2018; 10.1038/s41431-018-0192-5   Abstract | Full Text Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases Anibal Bueno, Rocío Rodríguez-López, Armando Reyes-Palomares, Elena Rojano, Manuel Corpas et al. European Journal of Human Genetics 2018 26 :1451 - 1461; June 26, 2018; 10.1038/s41431-018-0139-x   Abstract | Full Text Primary brain calcification: an international study reporting novel variants and associated phenotypes Eliana Marisa Ramos, Miryam Carecchio, Roberta Lemos, Joana Ferreira, Andrea Legati et al. European Journal of Human Genetics 2018 26 :1462 - 1477; June 28, 2018; 10.1038/s41431-018-0185-4   Abstract | Full Text The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports Aafke Engwerda, Barbara Frentz, A. Lya den Ouden, Boudien C. T. Flapper, Morris A. Swertz et al. European Journal of Human Genetics 2018 26 :1478 - 1489; June 08, 2018; 10.1038/s41431-018-0172-9   Abstract | Full Text Isochromosome 21q is overrepresented among false-negative cell-free DNA prenatal screening results involving Down syndrome Karin Huijsdens-van Amsterdam, Lieve Page-Christiaens, Nicola Flowers, Michael D Bonifacio, Katie M Battese Ellis et al. European Journal of Human Genetics 2018 26 :1490 - 1496; June 13, 2018; 10.1038/s41431-018-0188-1   Abstract | Full Text A heterozygous microdeletion of 20q13.13 encompassing ADNP gene in a child with Helsmoortel–van der Aa syndrome Minh-Tuan Huynh, Elise Boudry-Labis, Alfred Massard, Caroline Thuillier, Bruno Delobel et al. European Journal of Human Genetics 2018 26 :1497 - 1501; June 13, 2018; 10.1038/s41431-018-0165-8   Abstract | Full Text Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs Robert Smigiel, Gerd Landsberg, Maximilian Schilling, Małgorzata Rydzanicz, Agnieszka Pollak et al. European Journal of Human Genetics 2018 26 :1502 - 1511; June 13, 2018; 10.1038/s41431-018-0179-2   Abstract | Full Text A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course Sabine Grønborg, Lotte Risom, Jakob Ek, Karen Bonde Larsen, David Scheie et al. European Journal of Human Genetics 2018 26 :1512 - 1520; June 19, 2018; 10.1038/s41431-018-0204-5   Abstract | Full Text Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation Whitney L. Wooderchak-Donahue, Peter Johnson, Jamie McDonald, Francine Blei, Alejandro Berenstein et al. European Journal of Human Genetics 2018 26 :1521 - 1536; June 11, 2018; 10.1038/s41431-018-0196-1   Abstract | Full Text Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis Wouter Van Rheenen, Sara L. Pulit, Annelot M. Dekker, Ahmad Al Khleifat, William J. Brands et al. European Journal of Human Genetics 2018 26 :1537 - 1546; June 28, 2018; 10.1038/s41431-018-0177-4   Abstract | Full Text Genetically driven adiposity traits increase the risk of coronary artery disease independent of blood pressure, dyslipidaemia, glycaemic traits Wan-Qiang Lv, Xue Zhang, Kun Fan, Xin Xia, Qiang Zhang et al. European Journal of Human Genetics 2018 26 :1547 - 1553; June 11, 2018; 10.1038/s41431-018-0180-9   Abstract | Full Text Brief Communication Utility of two SMN1 variants to improve spinal muscular atrophy carrier diagnosis and genetic counselling Laura Alías, Sara Bernal, Maite Calucho, Elisabeth Martínez, Francesca March et al. European Journal of Human Genetics 2018 26 :1554 - 1557; June 14, 2018; 10.1038/s41431-018-0193-4   Abstract | Full Text Book Review Careful what you say Sally Ann Lynch European Journal of Human Genetics 2018 26 :1558 - 1558; June 14, 2018; 10.1038/s41431-018-0178-3   Abstract | Full Text Advertisement Nature Briefing is an essential round-up of science news, opinion and analysis, free in your inbox every weekday. With Nature Briefing, we'll keep you updated on the latest research, so you can focus on yours. Click here to sign up. Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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