European Journal of Human Genetics
Papers 6210
1 page of 621 pages (6,210 results)
#1Yannick Schreiner (Heidelberg University)
#2Thomas Schaible (Heidelberg University)H-Index: 28
Last. Neysan Rafat (Heidelberg University)H-Index: 12
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Congenital diaphragmatic hernia (CDH) is a life-threatening malformation characterised by failure of diaphragmatic development with lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). The incidence is 1:2000 corresponding to 8% of all major congenital malformations. Morbidity and mortality in affected newborns are very high and at present, there is no precise prenatal or early postnatal prognostication parameter to predict clinical outcome in CDH patients. Most cases occ...
#1Maia Farrugia Wismayer (University of Malta)H-Index: 1
#2Andrew Farrugia Wismayer (University of Malta)H-Index: 1
Last. Ruben J. Cauchi (University of Malta)H-Index: 14
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Amyotrophic lateral sclerosis (ALS) is frequently caused by mutations in the SOD1 gene. Here, we report the first SOD1 variant in Malta, an archipelago of three inhabited islands in southern Europe. We describe a patient with a sporadic form of ALS living on the island of Gozo in which the heterozygous SOD1 c.272A>C; p.(Asp91Ala) variant was detected. The patient had a late onset (79 years), sensory impairments and rapid disease progression culminating in respiratory failure. ALS has not yet dev...
#1Shenaz Ahmed (University of Leeds)H-Index: 18
#2H. Jafri (Fatima Jinnah Medical College)H-Index: 11
Last. Mushtaq AhmedH-Index: 17
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Low uptake of cascade screening for βeta-thalassaemia major (β-TM) in the ‘Punjab Thalassaemia Prevention Project’ (PTPP) in Pakistan led to the development of a ‘decision support intervention for relatives’ (DeSIRe). This paper presents the experiences of relatives of children with β-TM of the DeSIRe following its use by PTPP field officers (FOs) in routine clinical practice. Fifty-four semi-structured qualitative interviews were conducted (April to June 2021) with relatives in seven cities in ...
#1Adeline Perrot (University of Oxford)
#2Ruth Horn (University of Oxford)H-Index: 8
Since 2019, England, France and Germany have started offering NIPT as a publicly funded second-tier test for common chromosomal aneuploidies (trisomy 21, 18 and/or 13). Despite these benefits, the introduction of NIPT into routine prenatal care also raises a number of ethical concerns. In this paper, we analyse how these issues are discussed differently across countries, echoing the different socio-political particularities and value-systems that shape the use and regulation of NIPT in a specifi...
#1Amanda M. Willis (UNSW: University of New South Wales)H-Index: 3
#2Bronwyn Terrill (UNSW: University of New South Wales)H-Index: 4
Last. Mary-Anne Young (UNSW: University of New South Wales)H-Index: 21
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Researchers and research participants increasingly support returning clinically actionable genetic research findings to participants, but researchers may lack the skills and resources to do so. In response, a genetic counsellor-led program to facilitate the return of clinically actionable findings to research participants was developed to fill the identified gap in research practice and meet Australian research guidelines. A steering committee of experts reviewed relevant published literature an...
#1Felicity K. Boardman (Warw.: University of Warwick)H-Index: 13
#2Corinna C. A. Clark (Warw.: University of Warwick)H-Index: 9
Despite no consensus on the definition of ‘seriousness’, the concept is regularly used in policy and practice contexts to categorise conditions, determine access to genetic technologies and uses of selective pregnancy termination. Whilst attempts have been made to create taxonomies of genetic condition seriousness to inform clinical and policy decision-making, these have often relied on condition appraisals made by health and genetics professionals. The views of people with genetic conditions ha...
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#1Laura YeatesH-Index: 17
#2Kristie McDonald (USYD: University of Sydney)H-Index: 2
Last. Jodie Ingles (USYD: University of Sydney)H-Index: 4
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Preimplantation genetic diagnosis (PGD) ensures a disease-causing variant is not passed to the next generation, including for inherited heart diseases. PGD is known to cause significant emotional burden, but little is known about how parents experience PGD to select against inherited heart disease. We aim to understand how people with inherited heart disease, and their partners, experience and make decisions about PGD. Participants were recruited from a specialised inherited heart disease clinic...
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