Volume 21 Issue 6, June 2013

Clinical utility gene card for: familial polycythaemia vera

• Kais Hussein
• Galit Granot
• Hans Kreipe

Clinical utility gene card for: Pseudohypoparathyroidism

• Giovanna Mantovani
• Agnes Linglart
• Guiomar Perez de Nanclares

David Cox, a counsellor of geneticists

• GertJan B van Ommen

Whole-genome sequencing in health care

• Carla G van El
• Martina C Cornel
• Guido M W R de Wert

The next controversy in genetic testing: clinical data as trade secrets?

• Robert Cook-Deegan
• John M Conley
• Daniel Vorhaus

Functional characterization of desmin mutant p.P419S

• Andreas Brodehl
• Mareike Dieding
• Hendrik Milting

Reply to Brodehl et al

• Carola Hedberg
• Atle Melberg
• Anders Oldfors

How can ethics relate to science? The case of stem cell research

• Ana Sofia Carvalho
• João Ramalho-Santos

A tiered-layered-staged model for informed consent in personal genome testing

• Eline M Bunnik
• A Cecile J W Janssens
• Maartje H N Schermer

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

• Camille Leroy
• Emilie Landais
• Martine Doco-Fenzy

A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree

• Caterina Marconi
• Paolo Brunamonti Binello
• Marco Seri

Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders

• Barbara Wiśniowiecka-Kowalnik
• Monika Kastory-Bronowska
• Paweł Stankiewicz

Germ-line CAG repeat instability causes extreme CAG repeat expansion with infantile-onset spinocerebellar ataxia type 2

• Tua Vinther-Jensen
• Jakob Ek
• Troels Tolstrup Nielsen

Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study

• Francesco D Tiziano
• Rosa Lomastro
• Lucia Morandi

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

• Olga S Koutsopoulos
• Christine Kretz
• Jocelyn Laporte

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

• Julia Schreml
• Markus Riessland
• Brunhilde Wirth

The role of GHR and IGF1 genes in the genetic determination of African pygmies’ short stature

• Noémie SA Becker
• Paul Verdu
• Evelyne Heyer

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

• Tõnu Esko
• Massimo Mezzavilla
• Pio D'Adamo

Prioritising risk pathways of complex human diseases based on functional profiling

• Yan Li
• Teng Huang
• Yixue Li

SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits

• Osorio D Meirelles
• Jun Ding
• David Schlessinger

Statistical tests for detecting associations with groups of genetic variants: generalization, evaluation, and implementation

• John Ferguson
• William Wheeler
• Joshua Sampson

An atypical Dent’s disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes

• Maria Addis
• Cristiana Meloni
• Franca Anglani

CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine

• Ernst-Wolfgang Kolbe
• Stephanie Tamm
• Frauke Stanke

A new double substitution mutation in the MEN1 gene: a limited penetrance and a specific phenotype

• Urielle Ullmann
• David Unuane
• Maryse Bonduelle

Whole Genome Sequencing in Health Care: Recommendations of the European Society of Human Genetics