TABLE OF CONTENTS
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Volume 26, Issue 7 |
| In this issue Comment Correspondence Viewpoint Review Article Article Brief Communication Clinical Utility Gene Card Book Review Also new AOP | |
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Comment | |
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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 |
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Correspondence | |
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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 |
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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 |
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Viewpoint | |
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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 |
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Review Article | |
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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 |
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Article | |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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Brief Communication | |
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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 |
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Clinical Utility Gene Card | |
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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 |
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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 |
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Book Review | |
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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 |
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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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