Sabbagh, Quentin Alkar, Fanny Patte, Karine Prodhomme, Olivier Janel, Caroline Touraine, Renaud Jeandel, Claire Geneviève, David
Published in
European journal of medical genetics
Spondyloepimetaphyseal dysplasias (SEMDs) belong to a clinically and genetically heterogeneous group of inherited skeletal disorders defined by a defect in the growth and shape of vertebrae, epiphyses and metaphyses. Rhizomelic SEMD is characterized by a disproportionate small stature caused by severe shortening and deformation of the limbs' proxim...
Pavarini, Gabriela Hamdi, Lamis Lorimer, Jessica Singh, Ilina
Published in
European journal of medical genetics
Since the U.S. Food and Drug Administration approved sales of genetic tests for late-onset Alzheimer's disease (LOAD) risk, a heated debate has arisen over whether these tests should indeed be offered online and direct-to-consumer (DTC). As this debate progresses, it is important to understand the ethical perspectives and motivations of young peopl...
Monticelli, Maria Mele, Bruno Hay Andreotti, Giuseppina Cubellis, Maria Vittoria Riccio, Guglielmo
Published in
European journal of medical genetics
The identification of high-risk factors for the infection by SARS-CoV-2 and the negative outcome of COVID-19 is crucial. The genetic background of the host might account for individual responses to SARS-CoV-2 infection besides age and comorbidities. A list of candidate polymorphisms is needed to drive targeted screens, given the existence of freque...
Benusiglio, Patrick R. Korenbaum, Clément Vibert, Roseline Ezenfis, Joël Geoffron, Sophie Paul, Charlotte Richard, Sandrine Byrde, Veronique Lejeune, Manon Guillerm, Erell
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Published in
European Journal of Medical Genetics
Introduction Mainstreamed genetic testing (MGT) obviates the need for a cancer genetics consultation, since trained oncologists (O) and gynaecologists (G) provide counseling, prescribe testing and deliver results. We report results from our MGT program and emphasize its utility during the COVID-19 lockdown, when cancer genetics clinics had suspende...
Chung, Claudia Cy Wong, Wilfred Hs Fung, Jasmine Lf Hong Kong, Rare Disease Chung, Brian Hy
Published in
European journal of medical genetics
The COVID-19 pandemic has had significant health, social, and economic consequences internationally. While the pandemic has direct implications on infected patients and families, there is a need to examine the pandemic's effect on patients with non-COVID-19-related diseases. This study examines the impact of the COVID-19 pandemic on 272 rare diseas...
Maggipinto, Sarah Chen, Angela Huynh, Dustin Heutlinger, Olivia Eberenz, Kimberly Mallick, Samyukta Marshall, Tanner Desai, Rishi Wolbrink, Traci A Boone, Philip M
...
Published in
European journal of medical genetics
Madhu, Rajesh Beaman, Glenda M Chandler, Kate E O'Sullivan, James Urquhart, Jill E Khan, Naz Martindale, Elizabeth Briggs, Tracy A Clayton-Smith, Jill Higgs, Jenny
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Published in
European journal of medical genetics
Ligase IV (LIG4) syndrome is a rare disorder of DNA damage repair caused by biallelic, pathogenic variants in LIG4. This is a phenotypically heterogeneous condition with clinical presentation varying from lymphoreticular malignancies in developmentally normal individuals to significant microcephaly, primordial dwarfism, radiation hypersensitivity, ...
Griffin, Darren K Larkin, Denis M O'Connor, Rebecca E
Published in
European journal of medical genetics
For the purpose of this review, 'time-lapse' refers to the reconstruction of ancestral (in this case dinosaur) karyotypes using genome assemblies of extant species. Such reconstructions are only usually possible when genomes are assembled to 'chromosome level' i.e. a complete representation of all the sequences, correctly ordered contiguously on ea...
Chico, Victoria
Published in
European journal of medical genetics
Where there is conflict between a patient's interests in non-disclosure of their genetic information to relatives and the relative's interest in knowing the information because it indicates their genetic risk, clinicians have customarily been able to protect themselves against legal action by maintaining confidence even if, professionally, they did...
Middleton, Anna Milne, Richard Thorogood, Adrian Kleiderman, Erika Niemiec, Emilia Prainsack, Barbara Farley, Lauren Bevan, Paul Steed, Claire Smith, James
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With the use of genetic technology, researchers have the potential to inform medical diagnoses and treatment in actionable ways. Accurate variant interpretation is a necessary condition for the utility of genetic technology to unfold. This relies on the ability to access large genomic datasets so that comparisons can be made between variants of int...
