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
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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...
Roberts, Jonathan Archer, Louise DeWitt, Jennifer Middleton, Anna
Published in
European journal of medical genetics
While many people enjoy popular culture, these transactional experiences may not translate into formal or academic learning about a subject. In education and science communication settings popular culture is often presented as a source of inaccurate information about science. Different publics are often positioned as, at best, undiscriminating cons...
Barcia, Giulia Chemaly, Nicole Gobin, Stephanie Milh, Mathieu Van Bogaert, Patrick Barnerias, Christine Kaminska, Anna Dulac, Olivier Desguerre, Isabelle Cormier, Valerie
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Published in
European Journal of Medical Genetics
STXBP1 (MUNC18.1), encoding syntaxin binding protein 1, is a gene causing epileptic encephalopathy. Mutations in STXBP1 have first been reported in early onset epileptic encephalopathy with suppression-bursts, then in infantile spasms and, more recently, in patients with non syndromic mental retardation without epilepsy.We analyzed clinical evoluti...
Carmichael, Suzan L.
Published in
European Journal of Medical Genetics
This article provides background information about epidemiologic methods and how they can be used to further our understanding of what causes birth defects. It briefly describes basic study designs and advantages and disadvantages of each, provides examples of how epidemiologic studies contribute to our current understanding of the etiologies of bi...
