Tuesday, February 20, 2018

European Journal of Human Genetics - Table of Contents alert Volume 26 Issue n2

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European Journal of Human Genetics

Volume 26, Issue 2 (February 2018)

In this issue
Review Article
Brief Communication
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Review Article

Rules for processing genetic data for research purposes in view of the new EU General Data Protection Regulation

Mahsa Shabani & Pascal Borry

European Journal of Human Genetics 2017 26 :149 - 156; November 29, 2017; 10.1038/s41431-017-0045-7


Abstract | Full Text


Older mothers and increased impact of prenatal screening: stable livebirth prevalence of trisomy 21 in the Netherlands for the period 2000–2013


European Journal of Human Genetics 2018 26 :157 - 165; January 12, 2018; 10.1038/s41431-017-0075-1


Abstract | Full Text

Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population

Inge B. Mathijssen, Kim C. A. Holtkamp, Cecile P. E. Ottenheim, Janneke M. C. van Eeten-Nijman, Phillis Lakeman et al.

European Journal of Human Genetics 2018 26 :166 - 175; January 10, 2018; 10.1038/s41431-017-0056-4


Abstract | Full Text

Effect of deliberation on the public’s attitudes toward consent policies for biobank research

Tom Tomlinson, Raymond G. De Vries, H. Myra Kim, Linda Gordon, Kerry A. Ryan et al.

European Journal of Human Genetics 2018 26 :176 - 185; January 18, 2018; 10.1038/s41431-017-0063-5


Abstract | Full Text

Regulatory variants of FOXG1 in the context of its topological domain organisation

Mana M Mehrjouy, Ana Carolina S. Fonseca, Nadja Ehmke, Giorgio Paskulin, Antonio Novelli et al.

European Journal of Human Genetics 2017 26 :186 - 196; December 30, 2017; 10.1038/s41431-017-0011-4


Abstract | Full Text

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling

Reza Asadollahi, Justin E Strauss, Martin Zenker, Oliver Beuing, Simon Edvardson et al.

European Journal of Human Genetics 2018 26 :197 - 209; January 10, 2018; 10.1038/s41431-017-0019-9


Abstract | Full Text

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Anneke Kievit, Federico Tessadori, Hannie Douben, Ingrid Jordens, Madelon Maurice et al.

European Journal of Human Genetics 2018 26 :210 - 219; January 18, 2018; 10.1038/s41431-017-0010-5


Abstract | Full Text

De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity

Xia Li, Sibylle Poschmann, Qiuyun Chen, Walid Fazeli, Nelly Jouayed Oundjian et al.

European Journal of Human Genetics 2018 26 :220 - 229; January 12, 2018; 10.1038/s41431-017-0073-3


Abstract | Full Text

Whole-sequence analysis indicates that the Y chromosome C2*-Star Cluster traces back to ordinary Mongols, rather than Genghis Khan

Lan-Hai Wei, Shi Yan, Yan Lu, Shao-Qing Wen, Yun-Zhi Huang et al.

European Journal of Human Genetics 2018 26 :230 - 237; January 22, 2018; 10.1038/s41431-017-0012-3


Abstract | Full Text

Functional and association analysis of an Amerindian-derived population-specific p.(Thr280Met) variant in RBPJL, a component of the PTF1 complex

Anup K. Nair, Jeff R. Sutherland, Michael Traurig, Paolo Piaggi, Peng Chen et al.

European Journal of Human Genetics 2018 26 :238 - 246; January 04, 2018; 10.1038/s41431-017-0062-6


Abstract | Full Text

Genetic variant in CACNA1C is associated with PTSD in traumatized police officers

Izabela M. Krzyzewska, Judith B. M. Ensink, Laura Nawijn, Adri N. Mul, Saskia B. Koch et al.

European Journal of Human Genetics 2018 26 :247 - 257; January 23, 2018; 10.1038/s41431-017-0059-1


Abstract | Full Text

Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

Dheeraj R. Bobbili, Dennis Lal, Patrick May, Eva M. Reinthaler, Kamel Jabbari et al.

European Journal of Human Genetics 2018 26 :258 - 264; January 22, 2018; 10.1038/s41431-017-0034-x


Abstract | Full Text

Bayesian analysis of genome-wide inflammatory bowel disease data sets reveals new risk loci


European Journal of Human Genetics 2017 26 :265 - 274; December 04, 2017; 10.1038/s41431-017-0041-y


Abstract | Full Text

Genome-wide search for higher order epistasis as modifiers of treatment effects on bone mineral density in childhood cancer survivors

Cindy Im, Kirsten K. Ness, Sue C. Kaste, Wassim Chemaitilly, Wonjong Moon et al.

European Journal of Human Genetics 2018 26 :275 - 286; January 18, 2018; 10.1038/s41431-017-0050-x


Abstract | Full Text

Brief Communication

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

Marine Legendre, Montserrat Rodriguez - Ballesteros, Massimiliano Rossi, VĂ©ronique Abadie, Jeanne Amiel et al.

European Journal of Human Genetics 2017 26 :287 - 292; December 18, 2017; 10.1038/s41431-017-0007-0


Abstract | Full Text

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