European Journal of Human Genetics
Papers 5665
1 page of 567 pages (5,665 results)
#1Lisa Marie Ballard (University of Southampton)H-Index: 1
#2Rachel Horton (University of Southampton)H-Index: 4
Last.Anneke Lucassen (University of Southampton)H-Index: 40
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Technological advances have seen the offer of genome sequencing becoming part of mainstream medical practice. Research has elicited patient and health professional views on the ethical issues genome sequencing raises, however, we know little about the general public’s views. These views offer an insight into people’s faith in such technologies, informing discussion regarding the approach to consent in clinic. We aimed to garner public views regarding genome sequencing, incidental findings (IFs),...
1 CitationsSource
#1Klaasjan G Ouwens (PHRI: Public Health Research Institute)
#2René F. Jansen (VU: VU University Amsterdam)H-Index: 34
Last.Dorret I. Boomsma (PHRI: Public Health Research Institute)H-Index: 136
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Insights into individual differences in gene expression and its heritability (h2) can help in understanding pathways from DNA to phenotype. We estimated the heritability of gene expression of 52,844 genes measured in whole blood in the largest twin RNA-Seq sample to date (1497 individuals including 459 monozygotic twin pairs and 150 dizygotic twin pairs) from classical twin modeling and identity-by-state-based approaches. We estimated for each gene h2total, composed of cis-heritability (h2cis, t...
#1Yongyi Yuan (Emory University)H-Index: 1
#2Qi Li (Southern Medical University)H-Index: 2
Last.Pu Dai (Chinese PLA General Hospital)H-Index: 22
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Hereditary hearing loss is a monogenic disease with high genetic heterogeneity. Variants in more than 100 deafness genes underlie the basis of its pathogenesis. The aim of this study was to assess the ratio of SNVs in known deafness genes contributing to the etiology of both sporadic and familial sensorineural hearing loss patients from China. DNA samples from 1127 individuals, including normal hearing controls (n = 616), sporadic SNHL patients (n = 433), and deaf individuals (n = 78) from 30 he...
#1Yanqin Zhang (PKU: Peking University)H-Index: 6
#2Jie Ding (PKU: Peking University)H-Index: 20
Last.Fang Wang (PKU: Peking University)H-Index: 18
view all 8 authors...
X-linked Alport syndrome (XLAS) is an inherited renal disease caused by mutations in COL4A5 gene. The c.2858G>T(p.(G953V)) in COL4A5 gene (rs78972735) has been considered pathogenic previously. However, there are conflicting interpretations of its pathogenicity recently. Here we presented 19 Chinese families, out of which 36 individuals (18 probands and 18 family members) carried the c.2858G>T(p.(G953V)) in COL4A5 gene. The clinical manifestations and genetic findings of them were analyzed. We f...
#1Stéphanie Nguengang Wakap (French Institute of Health and Medical Research)H-Index: 1
#2Deborah Lambert (Mater Misericordiae University Hospital)H-Index: 4
Last.Ana Rath (French Institute of Health and Medical Research)H-Index: 14
view all 9 authors...
Rare diseases, an emerging global public health priority, require an evidence-based estimate of the global point prevalence to inform public policy. We used the publicly available epidemiological data in the Orphanet database to calculate such a prevalence estimate. Overall, Orphanet contains information on 6172 unique rare diseases; 71.9% of which are genetic and 69.9% which are exclusively pediatric onset. Global point prevalence was calculated using rare disease prevalence data for predefined...
5 CitationsSource
#1Matt Bolz-Johnson (European Organisation for Rare Diseases)
#2Jelena Meek (Radboud University Nijmegen)
Last.Nicoline Hoogerbrugge (Radboud University Nijmegen)H-Index: 50
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#1Tobias FleigeH-Index: 1
#2Siegfried BurggrafH-Index: 5
Last.Marc Becker (LMU: Ludwig Maximilian University of Munich)H-Index: 2
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Nephropathic cystinosis is a rare autosomal recessive lysosomal storage disorder, which causes loss of renal proximal tubular function and progressive loss of glomerular function, finally leading to end stage renal failure at school age. In the course of the disease most patients will need kidney transplantation if treatment has not been started before clinical manifestation. With an effective treatment available, a newborn screening assay is highly demanded. Since newborns with cystinosis usual...
#1Scott Thiebes (KIT: Karlsruhe Institute of Technology)H-Index: 4
#2Matthias Schlesner (DKFZ: German Cancer Research Center)H-Index: 27
Last.Ali Sunyaev (KIT: Karlsruhe Institute of Technology)H-Index: 16
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#1Maria Weronika Gutowska-Ding (St Mary's Hospital)
#2Zuzana DeansH-Index: 16
Last.Simon Patton (St Mary's Hospital)H-Index: 8
view all 9 authors...
Next-generation sequencing (NGS) is replacing other molecular techniques to become the de facto gene diagnostics approach, transforming the speed of diagnosis for patients and expanding opportunities for precision medicine. Consequently, for accredited laboratories as well as those seeking accreditation, both objective measures of quality and external review of laboratory processes are required. External quality assessment (EQA), or Proficiency Testing (PT), can assess a laboratory’s service thr...
#1Jude Emmanuel Cléophat (Laval University)H-Index: 2
#2Ana Marin (Laval University)H-Index: 1
Last.Michel DorvalH-Index: 15
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Palliative care may be an opportunity to discuss cancer family history and familial cancer risks with patients’ relatives. It may also represent the last opportunity to collect, from dying patients, clinical data and biospecimens that will inform cancer risk assessment and prevention in their surviving relatives. This study aims to explore the perspectives of cancer patients’ relatives about cancer heritability, addressing cancer family history, and performing genetic testing in palliative care ...
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