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maandag 17 september 2018

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

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European Journal of Human Genetics

Volume 26, Issue 10

In this issue
Review Article
Brief Communication
Book Review
Also new


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


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

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