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European Journal of Human Genetics : EJHG|January 7, 2016
Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counselingAnnabeth Høgh Petersen, Mads Malik Aagaard, Henriette Roed Nielsen, et al.
European Journal of Human Genetics : EJHG|January 7, 2016
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomeliaRicarda Flöttmann, Anna Sowinska-Seidler, Julie Lavie, et al.
European Journal of Human Genetics : EJHG|January 7, 2016
The (in)famous GWAS P-value threshold revisited and updated for low-frequency variantsJoão Fadista, Alisa K Manning, Jose C Florez, et al.
European Journal of Human Genetics : EJHG|January 7, 2016
A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disabilityIrene Madrigal, Maria Isabel Alvarez-Mora, Jordi Rosell, et al.
European Journal of Human Genetics : EJHG|August 6, 2015
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndromeSarah Joyce, Kristiana Gordon, Glen Brice, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
A minimum set of ancestry informative markers for determining admixture proportions in a mixed American population: the Brazilian setHadassa C Santos, Andréa V R Horimoto, Eduardo Tarazona-Santos, et al.
European Journal of Human Genetics : EJHG|September 24, 2015
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disabilityAnne-Laure Mosca-Boidron, Lucie Gueneau, Guillaume Huguet, et al.
European Journal of Human Genetics : EJHG|September 10, 2015
Phenotypic extremes in rare variant study designsGina M Peloso, Daniel J Rader, Stacey Gabriel, et al.
European Journal of Human Genetics : EJHG|September 10, 2015
Novel genetic causes for cerebral visual impairmentDaniëlle G M Bosch, F Nienke Boonstra, Nicole de Leeuw, et al.
European Journal of Human Genetics : EJHG|October 29, 2015
Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidyCeline Lewis, Melissa Hill, Heather Skirton, et al.
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