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dinsdag 26 juni 2018

European Journal of Human Genetics - Table of Contents alert Volume 26 Issue n7

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European Journal of Human Genetics

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TABLE OF CONTENTS

Volume 26, Issue 7

In this issue
Comment
Correspondence
Viewpoint
Review Article
Article
Brief Communication
Clinical Utility Gene Card
Book Review
Also new
AOP
 

Comment

Evidence that UBASH3 is a causal gene for type 1 diabetes

John A Todd

European Journal of Human Genetics 2018 26 :925 - 927; May 14, 2018; 10.1038/s41431-018-0142-2

 

Abstract | Full Text

Correspondence

Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype

Sara Nuovo, Alessia Micalizzi, Stefano D’Arrigo, Monia Ginevrino, Tommaso Biagini et al.

European Journal of Human Genetics 2018 26 :928 - 929; May 25, 2018; 10.1038/s41431-018-0158-7

 

Abstract | Full Text

Reply to “Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype” by Nuovo et al.

Hanno J. Bolz

European Journal of Human Genetics 2018 26 :930 - 930; May 25, 2018; 10.1038/s41431-018-0162-y

 

Abstract | Full Text

Viewpoint

The FAIR guiding principles for data stewardship: fair enough?

Martin Boeckhout, Gerhard A. Zielhuis & Annelien L. Bredenoord

European Journal of Human Genetics 2018 26 :931 - 936; May 17, 2018; 10.1038/s41431-018-0160-0

 

Abstract | Full Text

Review Article

Circulating cell-free nucleic acids: characteristics and applications

Ondrej Pös, Orsolya Biró, Tomas Szemes & Bálint Nagy

European Journal of Human Genetics 2018 26 :937 - 945; April 23, 2018; 10.1038/s41431-018-0132-4

 

Abstract | Full Text

Article

Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe

Fabio Sirchia, Daniele Carrieri, Sandi Dheensa, Caroline Benjamin, Hülya Kayserili et al.

European Journal of Human Genetics 2018 26 :946 - 954; April 23, 2018; 10.1038/s41431-018-0131-5

 

Abstract | Full Text

Using a genetic test result in the care of family members: how does the duty of confidentiality apply?

Michael Parker & Anneke Lucassen

European Journal of Human Genetics 2018 26 :955 - 959; April 27, 2018; 10.1038/s41431-018-0138-y

 

Abstract | Full Text

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

Mélanie Rama, Claire Duflos, Isabelle Melki, Didier Bessis, Axelle Bonhomme et al.

European Journal of Human Genetics 2018 26 :960 - 971; April 23, 2018; 10.1038/s41431-018-0130-6

 

Abstract | Full Text

Psychological outcomes and surgical decisions after genetic testing in women newly diagnosed with breast cancer with and without a family history

Bettina Meiser, Veronica F. Quinn, Gillian Mitchell, Kathy Tucker, Kaaren J. Watts et al.

European Journal of Human Genetics 2018 26 :972 - 983; March 30, 2018; 10.1038/s41431-017-0057-3

 

Abstract | Full Text

The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results

Yvonne Bombard, Marc Clausen, Chloe Mighton, Lindsay Carlsson, Selina Casalino et al.

European Journal of Human Genetics 2018 26 :984 - 995; April 27, 2018; 10.1038/s41431-018-0144-0

 

Abstract | Full Text

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

Laura Mary, Amélie Piton, Elise Schaefer, Francesca Mattioli, Elsa Nourisson et al.

European Journal of Human Genetics 2018 26 :996 - 1006; April 26, 2018; 10.1038/s41431-018-0096-4

 

Abstract | Full Text

Biallelic PADI6 variants linking infertility, miscarriages, and hydatidiform moles

JianHua Qian, Ngoc Minh Phuong Nguyen, Maryam Rezaei, Bo Huang, YongLing Tao et al.

European Journal of Human Genetics 2018 26 :1007 - 1013; April 25, 2018; 10.1038/s41431-018-0141-3

 

Abstract | Full Text

Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice

Jesus Mates, Irene Mademont-Soler, Bernat del Olmo, Carles Ferrer-Costa, Monica Coll et al.

European Journal of Human Genetics 2018 26 :1014 - 1025; March 06, 2018; 10.1038/s41431-018-0119-1

 

Abstract | Full Text

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma

Valentina Imperatore, Anna Maria Pinto, Elisa Gelli, Eva Trevisson, Valeria Morbidoni et al.

European Journal of Human Genetics 2018 26 :1026 - 1037; April 17, 2018; 10.1038/s41431-017-0054-6

 

Abstract | Full Text

Re-assessment of multiple testing strategies for more efficient genome-wide association studies

Takahiro Otani, Hisashi Noma, Jo Nishino & Shigeyuki Matsui

European Journal of Human Genetics 2018 26 :1038 - 1048; March 09, 2018; 10.1038/s41431-018-0125-3

 

Abstract | Full Text

Effects of autozygosity and schizophrenia polygenic risk on cognitive and brain developmental trajectories

Aldo Córdova-Palomera, Tobias Kaufmann, Francesco Bettella, Yunpeng Wang, Nhat Trung Doan et al.

European Journal of Human Genetics 2018 26 :1049 - 1059; April 27, 2018; 10.1038/s41431-018-0134-2

 

Abstract | Full Text

Brief Communication

Molecular-genetic characterization of common, noncoding UBASH3A variants associated with type 1 diabetes

Yan Ge & Patrick Concannon

European Journal of Human Genetics 2018 26 :1060 - 1064; February 28, 2018; 10.1038/s41431-018-0123-5

 

Abstract | Full Text

Clinical Utility Gene Card

Clinical Utility Gene Card for: Becker muscular dystrophy

David Coote, Mark R. Davis, Macarena Cabrera, Merrilee Needham, Nigel G. Laing et al.

European Journal of Human Genetics 2018 26 :1065 - 1071; February 21, 2018; 10.1038/s41431-017-0064-4

 

Abstract | Full Text

Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)

David J. Coote, Mark R. Davis, Macarena Cabrera, Merrilee Needham, Nigel G. Laing et al.

European Journal of Human Genetics 2018 26 :1072 - 1077; April 26, 2018; 10.1038/s41431-017-0065-3

 

Abstract | Full Text

Book Review

JBS Haldane: an evolutionary geneticist not without controversy

Marc Woodbury-Smith

European Journal of Human Genetics 2018 26 :1078 - 1078; March 06, 2018; 10.1038/s41431-017-0093-z

 

Abstract | Full Text

Rett syndrome: a seminal book on extensive multidisciplinary analyses for rare disease

Pierre Bitoun

European Journal of Human Genetics 2018 26 :1079 - 1081; May 25, 2018; 10.1038/s41431-018-0163-x

 

Abstract | Full Text

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