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dinsdag 27 februari 2018

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

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European Journal of Human Genetics

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Volume 26, Issue 3 (March 2018)

In this issue
Review Article
Brief Communication
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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


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

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