'A very big challenge': a qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England

Authors: Bettina Friedrich, Cecilia Vindrola-Padros, Anneke M. Lucassen, Chris Patch, Angus Clarke, Monica Lakhanpaul, Celine Lewis

Source: Frontiers in Genetics, Vol 14 (2024)

Subject Terms: genomic medicine service, whole genome sequencing, implementation research, barriers and enablers, qualitative, service evaluation, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1282034/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/b3715c433b3d4da385f389dcbcfdc452

Ethics experts and fetal patients: a proposal for modesty

Authors: Dagmar Schmitz, Angus Clarke

Source: BMC Medical Ethics, Vol 22, Iss 1, Pp 1-7 (2021)

Subject Terms: Ethics consultation, Prenatal medicine, Professional ethics, Medical philosophy. Medical ethics, R723-726

File Description: electronic resource

Relation: https://doaj.org/toc/1472-6939

Access URL: https://doaj.org/article/6e9b72107cf747c0b1341b75b8434907

Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol [version 2; peer review: 3 approved, 1 approved with reservations]

Authors: Saskia C. Sanderson, Lauren Roberts, Cecilia Vindrola-Padros, Sarah L. Wynn, Monica Lakhanpaul, Celine Lewis, Angus Clarke, James Buchanan, Bettina Friedrich, Emma Clement, Melissa Hill, Jillian Hastings-Ward, Anneke M. Lucassen, Ruth Horn, Alexandra Pickard, Chris Patch

Source: NIHR Open Research, Vol 1 (2022)

Subject Terms: genomics, genomic medicine service, rare disease, paediatric, protocol, mixed methods, eng, Medicine

File Description: electronic resource

Relation: https://openresearch.nihr.ac.uk/articles/1-23/v2; https://doaj.org/toc/2633-4402

Access URL: https://doaj.org/article/74dd057649cd4b4692fbc10805cbd7c6

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

Authors: Michael A. Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Clarke, Barbara R. DuPont, Mariet W. Elting, Laurence Faivre, Timothy Fee, Robin S. Fletcher, Florian Cherik, Aidin Foroutan, Michael J. Friez, Cristina Gervasini, Sadegheh Haghshenas, Benjamin A. Hilton, Zandra Jenkins, Simranpreet Kaur, Suzanne Lewis, Raymond J. Louie, Silvia Maitz, Donatella Milani, Angela T. Morgan, Renske Oegema, Elsebet Østergaard, Nathalie Ruiz Pallares, Maria Piccione, Simone Pizzi, Astrid S. Plomp, Cathryn Poulton, Jack Reilly, Raissa Relator, Rocio Rius, Stephen Robertson, Kathleen Rooney, Justine Rousseau, Gijs W.E. Santen, Fernando Santos-Simarro, Josephine Schijns, Gabriella Maria Squeo, Miya St John, Christel Thauvin-Robinet, Giovanna Traficante, Pleuntje J. van der Sluijs, Samantha A. Vergano, Niels Vos, Kellie K. Walden, Dimitar Azmanov, Tugce Balci, Siddharth Banka, Jozef Gecz, Peter Henneman, Jennifer A. Lee, Marcel M.A.M. Mannens, Tony Roscioli, Victoria Siu, David J. Amor, Gareth Baynam, Eric G. Bend, Kym Boycott, Nicola Brunetti-Pierri, Philippe M. Campeau, John Christodoulou, David Dyment, Natacha Esber, Jill A. Fahrner, Mark D. Fleming, David Genevieve, Kristin D. Kerrnohan, Alisdair McNeill, Leonie A. Menke, Giuseppe Merla, Paolo Prontera, Cheryl Rockman-Greenberg, Charles Schwartz, Steven A. Skinner, Roger E. Stevenson, Antonio Vitobello, Marco Tartaglia, Marielle Alders, Matthew L. Tedder, Bekim Sadikovic

Source: HGG Advances, Vol 3, Iss 1, Pp 100075- (2022)

Subject Terms: Episignatures, Neurodevelopmental disorders, DNA methylation, Epigenetics, Clinical diagnostics, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247721000567; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/625f01b427784d528fd75cff511b4125

Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol [version 1; peer review: 2 approved, 2 approved with reservations]

Authors: Saskia C. Sanderson, Lauren Roberts, Cecilia Vindrola-Padros, Sarah L. Wynn, Monica Lakhanpaul, Celine Lewis, Angus Clarke, James Buchanan, Bettina Friedrich, Emma Clement, Melissa Hill, Jillian Hastings-Ward, Anneke M. Lucassen, Ruth Horn, Alexandra Pickard, Chris Patch

Source: NIHR Open Research, Vol 1 (2021)

Subject Terms: genomics, genomic medicine service, rare disease, paediatric, protocol, mixed methods, eng, Medicine

File Description: electronic resource

Relation: https://openresearch.nihr.ac.uk/articles/1-23/v1; https://doaj.org/toc/2633-4402

Access URL: https://doaj.org/article/c79370988e684cb59d6ce1bf20a1d55a

The generation of an induced pluripotent stem cell line (DCGi001-A) from an individual with FOXG1 syndrome carrying the c.460dupG (p.Glu154fs) variation in the FOXG1 gene

Authors: Adrian J. Waite, David Millar, Angus Clarke

Source: Stem Cell Research, Vol 49, Iss , Pp 102018- (2020)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506120303196; https://doaj.org/toc/1873-5061

Access URL: https://doaj.org/article/09f7faec576842bb9733a2d899cb4e50

Dimensions of responsibility in medical genetics: exploring the complexity of the 'duty to recontact'

Authors: Shane Doheny, Angus Clarke, Daniele Carrieri, Sandi Dheensa, Naomi Hawkins, Anneke Lucassen, Peter Turnpenny, Susan Kelly

Source: New Genetics and Society, Vol 37, Iss 3, Pp 187-206 (2018)

Subject Terms: duty to recontact, professional responsibilities, system and lifeworld, discourses of responsibility, Genetics, QH426-470, Medical philosophy. Medical ethics, R723-726

File Description: electronic resource

Relation: https://doaj.org/toc/1463-6778; https://doaj.org/toc/1469-9915

Access URL: https://doaj.org/article/f07ed46322f54b688f13220fbb70900c

A Holistic Approach to Fragile X Syndrome Integrated Guidance for Person-Centred Care

Authors: Kirsten Johnson (ORCID 0000-0003-3733-4947), Andrew C. Stanfield, Gaia Scerif, Andrew McKechanie, Angus Clarke, Jonathan Herring, Kayla Smith, Hayley Crawford

Source: Journal of Applied Research in Intellectual Disabilities. 2024 37(3).

Peer Reviewed: Y

Page Count: 11

Descriptors: Holistic Approach, Guides, National Standards, Genetic Disorders, Congenital Impairments, Intellectual Disability, Centralization, Literature Reviews, Symptoms (Individual Disorders), Comorbidity, Referral, Health Services

Analysis of the Phenotypes in the Rett Networked Database

Authors: Elisa Frullanti, Filomena T. Papa, Elisa Grillo, Angus Clarke, Bruria Ben-Zeev, Mercedes Pineda, Nadia Bahi-Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martinez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djuric, Anne-Marie Bisgaard, Kirstine Ravn, Vlatka Mejaski Bosnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, Victoria Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri

Source: International Journal of Genomics, Vol 2019 (2019)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2314-436X; https://doaj.org/toc/2314-4378

Access URL: https://doaj.org/article/5503a980b8c64cb1aa57eb1f3caf31c0

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Dementia and its genes

Authors: Jain, Vani, Duffin, Donna, Angus Clarke, Professor

Source: InnovAIT; June 2020, Vol. 13 Issue: 6 p365-373, 9p

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