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European Journal of Human Genetics : EJHG|January 10, 2019
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasiaLettie E Rawlins, Hannah Jones, Olivia Wenger, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Towards establishing consistency in triage in a tertiary specialtyTerri Patricia McVeigh, Deirdre Donnelly, Maryam Al Shehhi, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Genetic architecture of laterality defects revealed by whole exome sequencingAlexander H Li, Neil A Hanchard, Mahshid Azamian, et al.
European Journal of Human Genetics : EJHG|January 11, 2019
Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophiliaMiguel Martín Abelleyro, Vanina Daniela Marchione, Micaela Palmitelli, et al.
European Journal of Human Genetics : EJHG|December 22, 2018
A game of hide and seq: Identification of parallel Y-STR evolution in deep-rooting pedigreesSofie Claerhout, Michiel Van der Haegen, Lisa Vangeel, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencingMartin Krahn, Valérie Biancalana, Mathieu Cerino, et al.
European Journal of Human Genetics : EJHG|December 16, 2018
Skewed X-inactivation is common in the general female populationEkaterina Shvetsova, Alina Sofronova, Ramin Monajemi, et al.
European Journal of Human Genetics : EJHG|December 1, 2019
A bird's-eye view of Italian genomic variation through whole-genome sequencingMassimiliano Cocca, Caterina Barbieri, Maria Pina Concas, et al.
European Journal of Human Genetics : EJHG|November 21, 2019
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of DPYD and fluoropyrimidinesCarin A T C Lunenburg, Cathelijne H van der Wouden, Marga Nijenhuis, et al.
European Journal of Human Genetics : EJHG|December 7, 2017
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiencySandra Jansen, Alexander Hoischen, Bradley P Coe, et al.
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