European Journal of Human Genetics - Table of Contents alert Volume 26 Issue n3

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Advertisement nature.com webcasts Springer Nature presents a custom webcast on: Precision over Bulk: Opportunities for Single-Cell DNA Analysis in Oncology Date: Tuesday, March 13, 2018 Register for the webcast and live Q&A session Sponsored by: Mission Bio     TABLE OF CONTENTS Volume 26, Issue 3 (March 2018) In this issue Review Article Article Brief Communication Also new AOP   Sign up for e-alerts Recommend to your library Web feed Subscribe Review Article Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome Andrew R. Mitz, Travis J. Philyaw, Luigi Boccuto, Aleksandr Shcheglovitov, Sara M. Sarasua et al. European Journal of Human Genetics 2018 26 :293 - 302; January 22, 2018; 10.1038/s41431-017-0042-x   Abstract | Full Text Article Targeted next generation sequencing in a young population with suspected inherited malignant cardiac arrhythmias   European Journal of Human Genetics 2018 26 :303 - 313; January 17, 2018; 10.1038/s41431-017-0060-8   Abstract | Full Text Cost of cancer diagnosis using next-generation sequencing targeted gene panels in routine practice: a nationwide French study Patricia Marino, Rajae Touzani, Lionel Perrier, Etienne Rouleau, Dede Sika Kossi et al. European Journal of Human Genetics 2018 26 :314 - 323; January 24, 2018; 10.1038/s41431-017-0081-3   Abstract | Full Text Perceptions of legislation relating to the sharing of genomic biobank results with donors—a survey of BBMRI-ERIC biobanks Minna Brunfeldt, Harriet Teare, Sirpa Soini & Helena Kääriäinen European Journal of Human Genetics 2018 26 :324 - 329; January 12, 2018; 10.1038/s41431-017-0049-3   Abstract | Full Text Biallelic variants in KIF14 cause intellectual disability with microcephaly Periklis Makrythanasis, Reza Maroofian, Asbjørg Stray-Pedersen, Damir Musaev, Maha S. Zaki et al. European Journal of Human Genetics 2018 26 :330 - 339; January 17, 2018; 10.1038/s41431-017-0088-9   Abstract | Full Text Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome Jean-Luc Alessandri, Christopher T. Gordon, Marie-Line Jacquemont, Nicolas Gruchy, Norbert F Ajeawung et al. European Journal of Human Genetics 2018 26 :340 - 349; January 12, 2018; 10.1038/s41431-017-0087-x   Abstract | Full Text SHOX haploinsufficiency presenting with isolated short long bones in the second and third trimester Shwetha Ramachandrappa, Abhijit Kulkarni, Hina Gandhi, Cheryl Ellis, Renata Hutt et al. European Journal of Human Genetics 2018 26 :350 - 358; January 12, 2018; 10.1038/s41431-017-0080-4   Abstract | Full Text Congenital diaphragmatic hernia as a part of Nance–Horan syndrome? Molka Kammoun, Paul Brady, Luc De Catte, Jan Deprest, Koenraad Devriendt et al. European Journal of Human Genetics 2018 26 :359 - 366; January 22, 2018; 10.1038/s41431-017-0032-z   Abstract | Full Text Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants Claudia Castiglioni, Fabiana Fattori, Bjarne Udd, Maria de los Angeles Avaria, Bernardita Suarez et al. European Journal of Human Genetics 2018 26 :367 - 373; January 22, 2018; 10.1038/s41431-017-0003-4   Abstract | Full Text Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin Cinthya J. Zepeda-Mendoza, Alexandra Bardon, Tammy Kammin, David J. Harris, Helen Cox et al. European Journal of Human Genetics 2018 26 :374 - 381; January 10, 2018; 10.1038/s41431-017-0068-0   Abstract | Full Text Phenotypic characteristics of colorectal cancer in BRCA1/2 mutation carriers Albert Grinshpun, Naama Halpern, Roy Zvi Granit, Ayala Hubert, Tamar Hamburger et al. European Journal of Human Genetics 2018 26 :382 - 386; January 10, 2018; 10.1038/s41431-017-0067-1   Abstract | Full Text Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients Michele Ciavarella, Sara Miccoli, Anna Prossomariti, Tommaso Pippucci, Elena Bonora et al. European Journal of Human Genetics 2018 26 :387 - 395; January 24, 2018; 10.1038/s41431-017-0086-y   Abstract | Full Text Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia’s encephalopathy David Araújo-Vilar, Rosario Domingo-Jiménez, Álvaro Ruibal, Pablo Aguiar, Salvador Ibáñez-Micó et al. European Journal of Human Genetics 2018 26 :396 - 406; January 24, 2018; 10.1038/s41431-017-0052-8   Abstract | Full Text Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiency Sanna Puusepp, Reka Kovacs-Nagy, Bader Alhaddad, Matthias Braunisch, Georg F. Hoffmann et al. European Journal of Human Genetics 2018 26 :407 - 419; January 17, 2018; 10.1038/s41431-017-0001-6   Abstract | Full Text Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects Catherine J. Spellicy, Joy Norris, Renee Bend, Caleb Bupp, Paul Mester et al. European Journal of Human Genetics 2018 26 :420 - 427; January 22, 2018; 10.1038/s41431-017-0025-y   Abstract | Full Text Brief Communication NMNAT1 variants cause cone and cone-rod dystrophy Benjamin M. Nash, Richard Symes, Himanshu Goel, Marcel E. Dinger, Bruce Bennetts et al. European Journal of Human Genetics 2017 26 :428 - 433; November 28, 2017; 10.1038/s41431-017-0029-7   Abstract | Full Text Human beta defensin (HBD) gene copy number affects HBD2 protein levels: impact on cervical bactericidal immunity in pregnancy Catherine P. James, Mona Bajaj-Elliott, Razan Abujaber, Frida Forya, Nigel Klein et al. European Journal of Human Genetics 2018 26 :434 - 439; January 24, 2018; 10.1038/s41431-017-0061-7   Abstract | Full Text Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6 Julia Taeubner, Katharina Wimmer, Martine Muleris, Olivier Lascols, Chrystelle Colas et al. European Journal of Human Genetics 2018 26 :440 - 444; January 04, 2018; 10.1038/s41431-017-0071-5   Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com More Nature Events Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to European Journal of Human Genetics. In order to do so, please purchase a subscription. You have been sent this Table of Contents Alert because you have opted in to receive it. 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