TABLE OF CONTENTS
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Volume 23, Issue 4 (April 2015)
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 Policy
Review
Articles
Short Reports
Clinical Utility Gene Card Updates
Book Review
Corrigenda
Also new
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POLICY
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EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disordersEJHGOPEN
Valérie Biancalana, Dieter Glaeser, Shirley McQuaid and Peter Steinbach
Eur J Hum Genet 2015 23: 417-425; advance online publication, September 17, 2014; 10.1038/ejhg.2014.185
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EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathiesEJHGOPEN
Joanne Traeger-Synodinos, Cornelis L Harteveld, John M Old, Mary Petrou, Renzo Galanello, Piero Giordano, Michael Angastioniotis, Barbara De la Salle, Shirley Henderson and Alison May on behalf of contributors to the EMQN haemoglobinopathies best practice meeting
Eur J Hum Genet 2015 23: 426-437; advance online publication, July 23, 2014; 10.1038/ejhg.2014.131
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European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study
Intza Garin, Giovanna Mantovani, Urko Aguirre, Anne Barlier, Bettina Brix, Francesca M Elli, Kathleen Freson, Virginie Grybek, Benedetta Izzi, Agnès Linglart, Guiomar Perez de Nanclares, Caroline Silve, Susanne Thiele and Ralf Werner on behalf of the EuroPHP Consortium
Eur J Hum Genet 2015 23: 438-444; advance online publication, July 9, 2014; 10.1038/ejhg.2014.127
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REVIEW
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Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification
Muriel de La Dure-Molla, Benjamin Philippe Fournier and Ariane Berdal
Eur J Hum Genet 2015 23: 445-451; advance online publication, August 13, 2014; 10.1038/ejhg.2014.159
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ARTICLES
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The role of the genetic counsellor: a systematic review of research evidence
Heather Skirton, Christophe Cordier, Charlotta Ingvoldstad, Nicolas Taris and Caroline Benjamin
Eur J Hum Genet 2015 23: 452-458; advance online publication, June 11, 2014; 10.1038/ejhg.2014.116
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Parents’ responses to receiving sickle cell or cystic fibrosis carrier results for their child following newborn screeningEJHGOPEN
Fiona Ulph, Tim Cullinan, Nadeem Qureshi and Joe Kai
Eur J Hum Genet 2015 23: 459-465; advance online publication, July 9, 2014; 10.1038/ejhg.2014.126
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An unexpected finding: younger fathers have a higher risk for offspring with chromosomal aneuploidies
Bernhard Steiner, Rahim Masood, Kaspar Rufibach, Dunja Niedrist, Oliver Kundert, Mariluce Riegel and Albert Schinzel
Eur J Hum Genet 2015 23: 466-472; advance online publication, July 9, 2014; 10.1038/ejhg.2014.122
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Homozygous missense variant in the human CNGA3 channel causes cone-rod dystrophy
Rehan S Shaikh, Peggy Reuter, Robert A Sisk, Tasleem Kausar, Mohsin Shahzad, Muhammad I Maqsood, Ateeq Yousif, Muhammad Ali, Saima Riazuddin, Bernd Wissinger and Zubair M Ahmed
Eur J Hum Genet 2015 23: 473-480; advance online publication, July 23, 2014; 10.1038/ejhg.2014.136
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Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect
Vanessa L Romanelli Tavares, Christopher T Gordon, Roseli M Zechi-Ceide, Nancy Mizue Kokitsu-Nakata, Norine Voisin, Tiong Y Tan, Andrew A Heggie, Siulan Vendramini-Pittoli, Evan J Propst, Blake C Papsin, Tatiana T Torres, Henk Buermans, Luciane Portas Capelo, Johan T den Dunnen, Maria L Guion-Almeida, Stanislas Lyonnet, Jeanne Amiel and Maria Rita Passos-Bueno
Eur J Hum Genet 2015 23: 481-485; advance online publication, July 16, 2014; 10.1038/ejhg.2014.132
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Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1EJHGOPEN
Stefanie Eggers, Katherine R Smith, Melanie Bahlo, Leendert HJ Looijenga, Stenvert LS Drop, Zulfa A Juniarto, Vincent R Harley, Peter Koopman, Sultana MH Faradz and Andrew H Sinclair
Eur J Hum Genet 2015 23: 486-493; advance online publication, August 6, 2014; 10.1038/ejhg.2014.130
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Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1bEJHGOPEN
Faisal I Rezwan, Rebecca L Poole, Trine Prescott, Joanna M Walker, I Karen Temple and Deborah JG Mackay
Eur J Hum Genet 2015 23: 494-499; advance online publication, July 9, 2014; 10.1038/ejhg.2014.133
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Functional correction by antisense therapy of a splicing mutation in the GALTgene
Ana I Coelho, Sílvia Lourenço, Matilde Trabuco, Maria João Silva, Anabela Oliveira, Ana Gaspar, Luísa Diogo, Isabel Tavares de Almeida, João B Vicente and Isabel Rivera
Eur J Hum Genet 2015 23: 500-506; advance online publication, July 23, 2014; 10.1038/ejhg.2014.149
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Pathway analysis with next-generation sequencing data
Jinying Zhao, Yun Zhu, Eric Boerwinkle and Momiao Xiong
Eur J Hum Genet 2015 23: 507-515; advance online publication, July 2, 2014; 10.1038/ejhg.2014.121
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Fine mapping analysis confirms and strengthens linkage of four chromosomal regions in familial hypospadias
Cilla Söderhäll, Izabella Baranowska Körberg, Hanh T T Thai, Jia Cao, Yougen Chen, Xufeng Zhang, Zu Shulu, Loes F M van der Zanden, Iris A L M van Rooij, Louise Frisén, Nel Roeleveld, Ellen Markljung, Ingrid Kockum and Agneta Nordenskjöld
Eur J Hum Genet 2015 23: 516-522; advance online publication, July 2, 2014; 10.1038/ejhg.2014.129
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Phenome-wide association studies (PheWASs) for functional variants
Zhan Ye, John Mayer, Lynn Ivacic, Zhiyi Zhou, Min He, Steven J Schrodi, David Page, Murray H Brilliant and Scott J Hebbring
Eur J Hum Genet 2015 23: 523-529; advance online publication, July 30, 2014; 10.1038/ejhg.2014.123
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Evaluation of European coeliac disease risk variants in a north Indian populationEJHGOPEN
Sabyasachi Senapati, Javier Gutierrez-Achury, Ajit Sood, Vandana Midha, Agata Szperl, Jihane Romanos, Alexandra Zhernakova, Lude Franke, Santos Alonso, B K Thelma, Cisca Wijmenga and Gosia Trynka
Eur J Hum Genet 2015 23: 530-535; advance online publication, July 23, 2014; 10.1038/ejhg.2014.137
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Copy number variations and genetic admixtures in three Xinjiang ethnic minority groups
Haiyi Lou, Shilin Li, Wenfei Jin, Ruiqing Fu, Dongsheng Lu, Xinwei Pan, Huaigu Zhou, Yuan Ping, Li Jin and Shuhua Xu
Eur J Hum Genet 2015 23: 536-542; advance online publication, July 16, 2014; 10.1038/ejhg.2014.134
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SHORT REPORTS
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A recurrent deletion syndrome at chromosome bands 2p11.2-2p12 flanked by segmental duplications at the breakpoints and including REEP1
Servi J C Stevens, Eveline W Blom, Ingrid T J Siegelaer and Eric E J G L Smeets
Eur J Hum Genet 2015 23: 543-546; advance online publication, July 2, 2014; 10.1038/ejhg.2014.124
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Using whole-exome sequencing to identify variants inherited from mosaic parents
Jonathan J Rios and Mauricio R Delgado
Eur J Hum Genet 2015 23: 547-550; advance online publication, July 2, 2014; 10.1038/ejhg.2014.125
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Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia
Paul D Brady, Hilde Van Esch, Nathalie Fieremans, Guy Froyen, Anne Slavotinek, Jan Deprest, Koenraad Devriendt and Joris R Vermeesch
Eur J Hum Genet 2015 23: 551-554; advance online publication, July 16, 2014; 10.1038/ejhg.2014.135
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No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia
Douglas M Ruderfer, Elaine T Lim, Giulio Genovese, Jennifer L Moran, Christina M Hultman, Patrick F Sullivan, Steven A McCarroll, Peter Holmans, Pamela Sklar and Shaun M Purcell
Eur J Hum Genet 2015 23: 555-557; advance online publication, November 5, 2014; 10.1038/ejhg.2014.228
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CLINICAL UTILITY GENE CARD UPDATES
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Clinical utility gene card for: Dyskeratosis congenita – update 2015
Inderjeet Dokal, Tom Vulliamy, Philip Mason and Monica Bessler
Eur J Hum Genet 2015 23: ; advance online publication, September 3, 2014; 10.1038/ejhg.2014.170
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Clinical utility gene card for: Aarskog–Scott Syndrome (faciogenital dysplasia) – update 2015
Alfredo Orrico, Lucia Galli, Jill Clayton-Smith and Jean-Pierre Fryns
Eur J Hum Genet 2015 23: ; advance online publication, September 17, 2014; 10.1038/ejhg.2014.178
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BOOK REVIEW
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Genetic Heterogeneity and Human Disease
Alessandra Ferlini and Sergio Fini
Eur J Hum Genet 2015 23: 559; 10.1038/ejhg.2015.2
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CORRIGENDA
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EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies
Joanne Traeger-Synodinos, Cornelis L Harteveld, John M Old, Mary Petrou, Renzo Galanello, Piero Giordano, Michael Angastioniotis, Barbara De la Salle, Shirley Henderson and Alison May on behalf of contributors to the EMQN haemoglobinopathies best practice meeting
Eur J Hum Genet 2015 23: 560; 10.1038/ejhg.2015.39
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European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: an EQA study
Intza Garin, Giovanna Mantovani, Urko Aguirre, Anne Barlier, Bettina Brix, Francesca M Elli, Kathleen Freson, Virginie Grybek, Benedetta Izzi, Agne's Linglart, Guiomar Perez de Nanclares, Caroline Silve, Susanne Thiele and Ralf Werner on behalf of the EuroPHP Consortium
Eur J Hum Genet 2015 23: 560; 10.1038/ejhg.2015.40
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