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European Journal of Human Genetics - Table of Contents alert Volume 26 Issue n4

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European Journal of Human Genetics

Volume 26, Issue 4

In this issue
Brief Communication
Also new


Human germline gene editing: Recommendations of ESHG and ESHRE

Guido de Wert, Guido Pennings, Angus Clarke, Ursula Eichenlaub-Ritter, Carla G. van El et al.

European Journal of Human Genetics 2018 26 :445 - 449; January 12, 2018; 10.1038/s41431-017-0076-0


Abstract | Full Text

Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE

Guido De Wert, Björn Heindryckx, Guido Pennings, Angus Clarke, Ursula Eichenlaub-Ritter et al.

European Journal of Human Genetics 2018 26 :450 - 470; January 12, 2018; 10.1038/s41431-017-0077-z


Abstract | Full Text


Revisiting Wilms tumour surveillance in Beckwith–Wiedemann syndrome with IC2 methylation loss, reply

Frédéric Brioude, Raoul Hennekam, Jet Bliek, Carole Coze, Thomas Eggermann et al.

European Journal of Human Genetics 2018 26 :471 - 472; February 15, 2018; 10.1038/s41431-017-0074-2


Abstract | Full Text

Reply to Brioude et al

Jack Brzezinski, Cheryl Shuman, Sanaa Choufani, Peter Ray, Dimitri J Stavropoulos et al.

European Journal of Human Genetics 2018 26 :473 - 474; February 15, 2018; 10.1038/s41431-017-0094-y


Abstract | Full Text

Fanconi anemia: from DNA repair to metabolism

Silvia Ravera, Carlo Dufour, Paolo Degan & Enrico Cappelli

European Journal of Human Genetics 2018 26 :475 - 476; February 02, 2018; 10.1038/s41431-017-0046-6


Abstract | Full Text


Psychosocial impact on mothers receiving expanded newborn screening results

Kathleen O’Connor, Tara Jukes, Sharan Goobie, Jennifer DiRaimo, Greg Moran et al.

European Journal of Human Genetics 2018 26 :477 - 484; January 29, 2018; 10.1038/s41431-017-0069-z


Abstract | Full Text

Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study

Jane L. Halliday, Cecile Muller, Taryn Charles, Fiona Norris, Joanne Kennedy et al.

European Journal of Human Genetics 2018 26 :485 - 494; February 06, 2018; 10.1038/s41431-017-0084-0


Abstract | Full Text

Interpretations of autonomous decision-making in antenatal genetic screening among women in China, Hong Kong and Pakistan

Shenaz Ahmed, Huso Yi, Dong Dong, Jianfeng Zhu, Hussain Jafri et al.

European Journal of Human Genetics 2018 26 :495 - 504; January 31, 2018; 10.1038/s41431-017-0091-1


Abstract | Full Text

Knowledge, experiences and attitudes concerning genetics among retinoblastoma survivors and parents

Jessica A Hill, Amal Gedleh, Siwon Lee, Kaitlyn A Hougham & Helen Dimaras

European Journal of Human Genetics 2018 26 :505 - 517; January 29, 2018; 10.1038/s41431-017-0027-9


Abstract | Full Text

Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia

Elvira D’Andrea, Tyra Lagerberg, Corrado De Vito, Erica Pitini, Carolina Marzuillo et al.

European Journal of Human Genetics 2018 26 :518 - 526; January 26, 2018; 10.1038/s41431-017-0083-1


Abstract | Full Text

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

Audrey Schalk, Géraldine Greff, Nathalie Drouot, Cathy Obringer, Hélène Dollfus et al.

European Journal of Human Genetics 2018 26 :527 - 536; February 08, 2018; 10.1038/s41431-017-0009-y


Abstract | Full Text

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

Rick Kamps, Radek Szklarczyk, Tom E. Theunissen, Debby M. E. I. Hellebrekers, Suzanne C. E. H. Sallevelt et al.

European Journal of Human Genetics 2018 26 :537 - 551; February 13, 2018; 10.1038/s41431-017-0058-2


Abstract | Full Text

CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability

Annemieke J. M. H. Verkerk, Shimriet Zeidler, Guido Breedveld, Lydia Overbeek, Daphne Huigh et al.

European Journal of Human Genetics 2018 26 :552 - 560; January 26, 2018; 10.1038/s41431-017-0051-9


Abstract | Full Text

Genome-wide association study of Hirschsprung disease detects a novel low-frequency variant at the RET locus

João Fadista, Marie Lund, Line Skotte, Frank Geller, Priyanka Nandakumar et al.

European Journal of Human Genetics 2018 26 :561 - 569; January 29, 2018; 10.1038/s41431-017-0053-7


Abstract | Full Text

Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

Youmna Ghaleb, Sandy Elbitar, Petra El Khoury, Eric Bruckert, Valérie Carreau et al.

European Journal of Human Genetics 2018 26 :570 - 578; January 26, 2018; 10.1038/s41431-017-0078-y


Abstract | Full Text

Brief Communication

Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA damage

Liza Douiev, Bassam Abu-Libdeh & Ann Saada

European Journal of Human Genetics 2018 26 :579 - 581; February 02, 2018; 10.1038/s41431-017-0047-5


Abstract | Full Text

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder

Silvia Morlino, Marco Castori, Chiara Dordoni, Valeria Cinquina, Graziano Santoro et al.

European Journal of Human Genetics 2018 26 :582 - 586; February 21, 2018; 10.1038/s41431-017-0079-x


Abstract | Full Text

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment

Sebastien P. F. JanssensdeVarebeke, Guy Van Camp, Nils Peeters, Ellen Elinck, Josine Widdershoven et al.

European Journal of Human Genetics 2018 26 :587 - 591; February 15, 2018; 10.1038/s41431-017-0066-2


Abstract | Full Text

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability

Aida M. Bertoli-Avella, Jose M. Garcia-Aznar, Oliver Brandau, Fahad Al-Hakami, Zafer Yüksel et al.

European Journal of Human Genetics 2018 26 :592 - 598; February 15, 2018; 10.1038/s41431-018-0097-3


Abstract | Full Text

Assessing the effectiveness of NICE criteria for stratifying breast cancer risk in a UK cohort

Lucy A. Littlejohn, Jim Gibbs, Lee B. Jordan, Zosia H. Miedzybrodzka, Christine Bell et al.

European Journal of Human Genetics 2018 26 :599 - 603; January 15, 2018; 10.1038/s41431-017-0072-4


Abstract | Full Text

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