Search Results - "Clarke, Angus J."

Rett syndrome: Revised diagnostic criteria and nomenclature by Jeffrey L. Neul, Kaufmann, Walter E., Glaze, Daniel G., Christodoulou, John, Clarke, Angus J., Bahi-Buisson, Nadia, Leonard, Helen, Bailey, Mark E. S., Schanen, N. Carolyn, Zappella, Michele, Renieri, Alessandra, Huppke, Peter, Percy, Alan K.

“…Objective Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations…”
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Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway by Wright, John Timothy, Fete, Mary, Schneider, Holm, Zinser, Madelaine, Koster, Maranke I., Clarke, Angus J., Hadj‐Rabia, Smail, Tadini, Gianluca, Pagnan, Nina, Visinoni, Atila F., Bergendal, Birgitta, Abbott, Becky, Fete, Timothy, Stanford, Clark, Butcher, Clayton, D'Souza, Rena N., Sybert, Virginia P., Morasso, Maria I.

“…An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the…”
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International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder by Amin, Sam, Monaghan, Marie, Aledo-Serrano, Angel, Bahi-Buisson, Nadia, Chin, Richard F, Clarke, Angus J, Cross, J Helen, Demarest, Scott, Devinsky, Orrin, Downs, Jenny, Pestana Knight, Elia M, Olson, Heather, Partridge, Carol-Anne, Stuart, Graham, Trivisano, Marina, Zuberi, Sameer, Benke, Tim A

“…CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between…”
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Process and outcome in communication of genetic information within families: a systematic review by GAFF, Clara L, CLARKE, Angus J, ATKINSON, Paul, SIVELL, Stephanie, ELWYN, Glyn, IREDALE, Rachel, THORNTON, Hazel, DUNDON, Joanna, SHAW, Chris, EDWARDS, Adrian

“…The communication of risk is a central activity in clinical genetics, with genetic health professionals encouraging the dissemination of relevant information…”
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Commentary on Eichinger J, Zimmermann B, Elger B, McLennan S, Filges I, Koné I. 2023. 'It's a nightmare': informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland by Clarke, Angus J

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Somatic mutations in salivary duct carcinoma and potential therapeutic targets by Khoo, Timothy K, Yu, Bing, Smith, Joel A, Clarke, Angus J, Luk, Peter P, Selinger, Christina I, Mahon, Kate L, Kraitsek, Spiridoula, Palme, Carsten, Boyer, Michael J, Dinger, Marcel E, Cowley, Mark J, O'Toole, Sandra A, Clark, Jonathan R, Gupta, Ruta

“…Salivary duct carcinomas (SDCa) are rare highly aggressive malignancies. Most patients die from distant metastatic disease within three years of diagnosis…”
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A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti by Towers, Rachel E, Murgiano, Leonardo, Millar, David S, Glen, Elise, Topf, Ana, Jagannathan, Vidhya, Drögemüller, Cord, Goodship, Judith A, Clarke, Angus J, Leeb, Tosso

“…Ectodermal dysplasias (EDs) are a large and heterogeneous group of hereditary disorders characterized by abnormalities in structures of ectodermal origin…”
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Managing the ethical challenges of next-generation sequencing in genomic medicine by Clarke, Angus J

“…Next-generation sequencing (NGS) is transforming the conduct of genetic research and diagnostic investigation. This creates new challenges as it generates…”
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Ethics in genetic counselling by Clarke, Angus J., Wallgren-Pettersson, Carina

“…Difficult ethical issues arise for patients and professionals in medical genetics, and often relate to the patient’s family or their social context. Tackling…”
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Peter S. Harper: obituary by Clarke, Angus J., Sampson, Julian R.

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Communication of Information about Genetic Risks: Putting Families at the Center by Mendes, Álvaro, Metcalfe, Alison, Paneque, Milena, Sousa, Liliana, Clarke, Angus J., Sequeiros, Jorge

“…Genetic information is a family affair. With the expansion of genomic technologies, many new causal genes and variants have been established and the potential…”
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The evolving role of medical geneticists in the era of gene therapy: An urgency to prepare by Vockley, Jerry, Brunetti-Pierri, Nicola, Chung, Wendy K., Clarke, Angus J., Gold, Nina, Green, Robert C., Kagan, Stephen, Moroz, Tara, Schaaf, Christian P., Schulz, Martin, De Baere, Elfride

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Between responsibility and desire: Accounts of reproductive decisions from those at risk for or affected by late‐onset neurological diseases by Mendes, Álvaro, Sequeiros, Jorge, Clarke, Angus J.

“…This paper explores ways in which genetic risk foregrounds forms of responsibility while dealing with reproduction. We analyzed individual and family…”
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For Your Interest? The Ethical Acceptability of Using Non-Invasive Prenatal Testing to Test 'Purely for Information' by Deans, Zuzana, Clarke, Angus J., Newson, Ainsley J.

“…Non‐invasive prenatal testing (NIPT) is an emerging form of prenatal genetic testing that provides information about the genetic constitution of a foetus…”
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Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics by Carrieri, Daniele, Howard, Heidi C, Benjamin, Caroline, Clarke, Angus J, Dheensa, Sandi, Doheny, Shane, Hawkins, Naomi, Halbersma-Konings, Tanya F, Jackson, Leigh, Kayserili, Hülya, Kelly, Susan E, Lucassen, Anneke M, Mendes, Álvaro, Rial-Sebbag, Emmanuelle, Stefánsdóttir, Vigdís, Turnpenny, Peter D, van El, Carla G, van Langen, Irene M, Cornel, Martina C, Forzano, Francesca

“…Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the…”
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Response to Beretich and Beretich by Vockley, Jerry, Brunetti-Pierri, Nicola, Chung, Wendy K, Clarke, Angus J, Gold, Nina, Green, Robert C, Kagan, Stephen, Moroz, Tara, Schaaf, Christian P, Schulz, Martin, De Baere, Elfride

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Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom by Carrieri, Daniele, Dheensa, Sandi, Doheny, Shane, Clarke, Angus J, Turnpenny, Peter D, Lucassen, Anneke M, Kelly, Susan E

“…This article explores the views and experiences of healthcare professionals and clinical scientists in genetics about the existence of a duty and/or…”
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GWAS: heritability missing in action? by Clarke, Angus J, Cooper, David N

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Recontact in clinical practice: a survey of clinical genetics services in the United Kingdom by Carrieri, Daniele, Lucassen, Anneke M., Clarke, Angus J., Dheensa, Sandi, Doheny, Shane, Turnpenny, Peter D., Kelly, Susan E.

“…Purpose: To ascertain whether and how recontacting occurs in the United Kingdom. Method: A Web-based survey was administered online between October 2014 and…”
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Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families by Jain, Vani, Foo, Seow Hoong, Chooi, Stephen, Moss, Celia, Goodwin, Richard, Berland, Siren, Clarke, Angus J, Davies, Sally J, Corrin, Sian, Murch, Oliver, Doyle, Samantha, Graham, Gail E, Greenhalgh, Lynn, Holder, Susan E, Johnson, Diana, Kumar, Ajith, Ladda, Roger L, Sell, Susan, Begtrup, Amber, Lynch, Sally A, McCann, Emma, Østern, Rune, Pottinger, Caroline, Splitt, Miranda, Fry, Andrew E

“…Börjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability syndrome caused by variants in the PHF6 gene. We ascertained 19 individuals…”
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