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JOURNAL ARTICLE
Johanna Eichinger, Bettina Zimmermann, Bernice Elger, Stuart McLennan, Isabel Filges, Insa Koné
The use of genome-wide sequencing (GWS) in paediatrics has added complexity to informed consent (IC) and pretest counselling because of the vast number and interpretation of potential findings, and their implications. However, empirical data from continental Europe on these issues remains limited. This study therefore aimed to explore the experiences and views of medical geneticists working with children in Germany and Switzerland regarding the challenges of obtaining valid IC in paediatric GWS. Qualitative interviews with 20 medical geneticists were analysed employing reflexive thematic analysis...
September 29, 2023: European Journal of Human Genetics: EJHG
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JOURNAL ARTICLE
Patrick R Benusiglio, Antoine Dardenne, Vincent Fallet, Jacques Cadranel
No abstract text is available yet for this article.
September 28, 2023: European Journal of Human Genetics: EJHG
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JOURNAL ARTICLE
Kristjan Norland, Daniel J Schaid, Iftikhar J Kullo
Polygenic scores (PGS) for coronary heart disease (CHD) are constructed using GWAS summary statistics for CHD. However, pleiotropy is pervasive in biology and disease-associated variants often share etiologic pathways with multiple traits. Therefore, incorporating GWAS summary statistics of additional traits could improve the performance of PGS for CHD. Using lasso regression models, we developed two multi-PGS for CHD: 1) multiPGSCHD , utilizing GWAS summary statistics for CHD, its risk factors, and other ASCVD as training data and the UK Biobank for tuning, and 2) extendedPGSCHD , using existing PGS for a broader range of traits in the PGS Catalog as training data and the Atherosclerosis Risk in Communities Study (ARIC) cohort for tuning...
September 26, 2023: European Journal of Human Genetics: EJHG
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JOURNAL ARTICLE
Nandana D Rao, Kristine M King, Jailanie Kaganovsky, Sajida Hassan, Darwin Tsinajinne, Stephanie M Fullerton, Annie T Chen, David L Veenstra, Brian H Shirts
Population genetic screening for preventable adult-onset hereditary conditions may improve disease management and morbidity but most individuals will receive uninformative results that do not indicate higher risk for disease. Investigation into subsequent psychosocial health and behaviors is necessary to inform population screening feasibility, effectiveness, and cost considerations. We conducted a prospective survey study of unselected University of Washington Medicine patients enrolled in a genetic research study screening for pathogenic variation in medically important genes...
September 26, 2023: European Journal of Human Genetics: EJHG
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JOURNAL ARTICLE
Alexandre Fabre, Paul Guerry
No abstract text is available yet for this article.
September 22, 2023: European Journal of Human Genetics: EJHG
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JOURNAL ARTICLE
Candy Kumps, Erika D'haenens, Jennifer Kerkhof, Haley McConkey, Marielle Alders, Bekim Sadikovic, Olivier M Vanakker
No abstract text is available yet for this article.
September 22, 2023: European Journal of Human Genetics: EJHG
#7
JOURNAL ARTICLE
Matilda A Haas, Evanthia O Madelli, Rosie Brown, Megan Prictor, Tiffany Boughtwood
There has been keen interest in whether dynamic consent should be used in health research but few real-world studies have evaluated its use. Australian Genomics piloted and evaluated CTRL ('control'), a digital consent tool incorporating granular, dynamic decision-making and communication for genomic research. Individuals from a Cardiovascular Genetic Disorders Flagship were invited in person (prospective cohort) or by email (retrospective cohort) to register for CTRL after initial study recruitment. Demographics, consent choices, experience surveys and website analytics were analysed using descriptive statistics...
September 14, 2023: European Journal of Human Genetics: EJHG
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JOURNAL ARTICLE
Vani Jain, Seow Hoong Foo, Stephen Chooi, Celia Moss, Richard Goodwin, Siren Berland, Angus J Clarke, Sally J Davies, Sian Corrin, Oliver Murch, Samantha Doyle, Gail E Graham, Lynn Greenhalgh, Susan E Holder, Diana Johnson, Ajith Kumar, Roger L Ladda, Susan Sell, Amber Begtrup, Sally A Lynch, Emma McCann, Rune Østern, Caroline Pottinger, Miranda Splitt, Andrew E Fry
Börjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability syndrome caused by variants in the PHF6 gene. We ascertained 19 individuals from 15 families with likely pathogenic or pathogenic PHF6 variants (11 males and 8 females). One family had previously been reported. Six variants were novel. We analysed the clinical and genetic findings in our series and compared them with reported BFLS patients. Affected males had classic features of BFLS including intellectual disability, distinctive facies, large ears, gynaecomastia, hypogonadism and truncal obesity...
September 14, 2023: European Journal of Human Genetics: EJHG
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JOURNAL ARTICLE
David Lorenzo, Montse Esquerda, Margarita Bofarull, Victoria Cusi, Helena Roig, Joan Bertran, Joan Carrera, Francesc Torralba, Francisco José Cambra, Martí Vila, Martina Garriga, Francesc Palau
Important advances in genetics research have been made in recent years. Such advances have facilitated the availability of huge amounts of genetic information that could potentially be reused beyond the original purpose for which such information was obtained. Any such reuse must meet certain ethical criteria to ensure that the dignity, integrity, and autonomy of the individual from whom that information was obtained are protected. The aim of this paper is to reflect on these criteria through a critical analysis of the literature...
September 13, 2023: European Journal of Human Genetics: EJHG
#10
REVIEW
Meghan R Mulligan, Louise S Bicknell
Embryonic development requires tight control of gene expression levels, activity, and localisation. This control is coordinated by multiple levels of regulation on DNA, RNA and protein. RNA-binding proteins (RBPs) are recognised as key regulators of post-transcriptional gene regulation, where their binding controls splicing, polyadenylation, nuclear export, mRNA stability, translation rate and decay. In brain development, the ELAVL family of RNA binding proteins undertake essential functions across spatiotemporal windows to help regulate and specify transcriptomic programmes for cell specialisation...
September 12, 2023: European Journal of Human Genetics: EJHG
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JOURNAL ARTICLE
Elin Ola Klemenzdottir, Gudny Anna Arnadottir, Brynjar Orn Jensson, Adalbjorg Jonasdottir, Hildigunnur Katrinardottir, Run Fridriksdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Sigurjon Axel Gudjonsson, Jon Johannes Jonsson, Vigdis Stefansdottir, Ragnar Danielsen, Astridur Palsdottir, Hakon Jonsson, Agnar Helgason, Olafur Thor Magnusson, Unnur Thorsteinsdottir, Hans Tomas Bjornsson, Kari Stefansson, Patrick Sulem
Marfan syndrome (MFS) is an autosomal dominant condition characterized by aortic aneurysm, skeletal abnormalities, and lens dislocation, and is caused by variants in the FBN1 gene. To explore causes of MFS and the prevalence of the disease in Iceland we collected information from all living individuals with a clinical diagnosis of MFS in Iceland (n = 32) and performed whole-genome sequencing of those who did not have a confirmed genetic diagnosis (27/32). Moreover, to assess a potential underdiagnosis of MFS in Iceland we attempted a genotype-based approach to identify individuals with MFS...
September 8, 2023: European Journal of Human Genetics: EJHG
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JOURNAL ARTICLE
Muhammad Bilal, Hammal Khan, Muhammad Javed Khan, Tobias B Haack, Rebecca Buchert, Khurram Liaqat, Kifayat Ullah, Sohail Ahmed, Thashi Bharadwaj, Anushree Acharya, Susana Peralta, Najumuddin, Hamid Ali, Muhammad Sharif Hasni, Isabelle Schrauwen, Asmat Ullah, Wasim Ahmad, Suzanne M Leal
Polydactyly is the most common limb malformation that occurs in 1.6-10.6 per one thousand live births, with incidence varying with ancestry. The underlying gene has been identified for many of the ~100 syndromes that include polydactyly. While for the more common form, nonsydromic polydactyly, eleven candidate genes have been reported. We investigated the underlying genetic cause of autosomal recessive nonsyndromic postaxial polydactyly in four consanguineous Pakistani families. Some family members with postaxial polydactyly also present with syndactyly, camptodactyly, or clinodactyly...
September 8, 2023: European Journal of Human Genetics: EJHG
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JOURNAL ARTICLE
Emily A Huth, Xiaonan Zhao, Nichole Owen, Pamela N Luna, Ida Vogel, Inger L H Dorf, Shelagh Joss, Jill Clayton-Smith, Michael J Parker, Jacoba J Louw, Marc Gewillig, Jeroen Breckpot, Alison Kraus, Erina Sasaki, Usha Kini, Trent Burgess, Tiong Y Tan, Ruth Armstrong, Katherine Neas, Giovanni B Ferrero, Alfredo Brusco, Wihelmina S Kerstjens-Frederikse, Julia Rankin, Lindsey R Helvaty, Benjamin J Landis, Gabrielle C Geddes, Kim L McBride, Stephanie M Ware, Chad A Shaw, Seema R Lalani, Jill A Rosenfeld, Daryl A Scott
Anomalous pulmonary venous return (APVR) frequently occurs with other congenital heart defects (CHDs) or extra-cardiac anomalies. While some genetic causes have been identified, the optimal approach to genetic testing in individuals with APVR remains uncertain, and the etiology of most cases of APVR is unclear. Here, we analyzed molecular data from 49 individuals to determine the diagnostic yield of clinical exome sequencing (ES) for non-isolated APVR. A definitive or probable diagnosis was made for 8 of those individuals yielding a diagnostic efficacy rate of 16...
September 7, 2023: European Journal of Human Genetics: EJHG
#14
JOURNAL ARTICLE
Kemelly Karolliny Moreira Resende, Margot Charlotte Riou, Paulo Marcio Yamaguti, Benjamin Fournier, Sophie Rondeau, Laurence Pacot, Ariane Berdal, Rufino Felizardo, Juliana Forte Mazzeu, Valérie Cormier-Daire, Céline Gaucher, Ana Carolina Acevedo, Muriel de La Dure-Molla
Amelogenesis imperfecta (AI) is a group of rare genetic conditions characterized by quantitative and/or qualitative tooth enamel alterations. AI can manifest as an isolated trait or as part of a syndrome. Recently, five biallelic disease-causing variants in the RELT gene were identified in 7 families with autosomal recessive amelogenesis imperfecta (ARAI). RELT encodes an orphan receptor in the tumor necrosis factor (TNFR) superfamily expressed during tooth development, with unknown function. Here, we report one Brazilian and two French families with ARAI and a distinctive hypomineralized phenotype with hypoplastic enamel, post-eruptive enamel loss, and occlusal attrition...
September 6, 2023: European Journal of Human Genetics: EJHG
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COMMENT
Aimé Lumaka
No abstract text is available yet for this article.
September 5, 2023: European Journal of Human Genetics: EJHG
#16
JOURNAL ARTICLE
Henry Oppermann, Elia Marcos-Grañeda, Linnea A Weiss, Christina A Gurnett, Anne Marie Jelsig, Susanne H Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T Pagnamenta, Simone Race, Siddharth Srivastava, Zoë Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M Reis, Elena V Semina, Miriam S Reuter, Stephen W Scherer, Maria Iascone, Denisa Weis, Christina R Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B Haack, Despoina C Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M Krawitz, Johannes R Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tümer, Konrad Platzer
Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the disorder in a Cux1+/- mouse model. Through international collaboration, we assembled the phenotypic and molecular information for 34 individuals (23 unpublished individuals). We analyze brain CUX1 expression and susceptibility to epilepsy in Cux1+/- mice. We describe 34 individuals, from which 30 were unrelated, with 26 different null and four missense variants...
August 30, 2023: European Journal of Human Genetics: EJHG
#17
COMMENT
Joann N Bodurtha, Thomas J Smith
No abstract text is available yet for this article.
August 22, 2023: European Journal of Human Genetics: EJHG
#18
JOURNAL ARTICLE
Fiona Lalloo, Anju Kulkarni, Cindy Chau, Maartje Nielsen, Michael Sheaff, Jeremy Steele, Remco van Doorn, Karin Wadt, Monica Hamill, Beth Torr, Marc Tischkowitz, Helen Hanson
BRCA1-associated protein-1 (BAP1) is a recognised tumour suppressor gene. Germline BAP1 pathogenic/likely pathogenic variants are associated with predisposition to multiple tumours, including uveal melanoma, malignant pleural and peritoneal mesothelioma, renal cell carcinoma and specific non-malignant neoplasms of the skin, as part of the autosomal dominant BAP1-tumour predisposition syndrome. The overall lifetime risk for BAP1 carriers to develop at least one BAP1-associated tumour is up to 85%, although due to ascertainment bias, current estimates of risk are likely to be overestimated...
August 22, 2023: European Journal of Human Genetics: EJHG
#19
JOURNAL ARTICLE
Janneke M L Kuiper, Pascal Borry, Danya F Vears, Hilde Van Esch, Martina C Cornel, Ine Van Hoyweghen
The implementation of next-generation sequencing (NGS) in diagnostic practice has stimulated ongoing debates on how to construct and perform "good" genomic care. Our multi-sited qualitative fieldwork at two large European centres for human genetics (CHGs) revealed tangible ambivalence in beliefs, norms, and actions in the enactment of NGS practices across sites stemming from differing expectations, interests, demands, and tensions. First, ambivalence was present around the boundaries of clinical diagnostic genetic care...
August 18, 2023: European Journal of Human Genetics: EJHG
#20
COMMENT
D Gareth R Evans, Anthony Howell, J Howell Sacha
No abstract text is available yet for this article.
August 17, 2023: European Journal of Human Genetics: EJHG
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