Publications by authors named "Amanda Pichini"

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Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Joanna Kaplanis, Dasha Deen, Prasanth Sivakumar, Mafalda de Almeida Gomes, Arina Puzriakova, Amanda Pichini

Genet Med· October 2025

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Variation Exists in Service Delivery: Similarities and Differences in the Provision of a Whole Genome Sequencing Service for Paediatric Rare Disease Patients in the National Health Service in England.
Nastazja Monika Laskowski, Angus Clarke, Christine Patch, Amanda Pichini, Melissa Hill

Public Health Genomics· December 2024

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Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation.
Holly Ellard, Angus Clarke, Sarah Wynn, Amanda Pichini, Celine Lewis

Eur J Hum Genet· November 2024

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Co-Creating the Experience of Consent for Newborn Genome Sequencing: The Generation Study.
Mathilde Leblond, Mirabai Galati, Jonathan Roberts, Harriet Etheredge, Nancy Willacy, Amanda Pichini

Public Health Genomics· November 2024

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Perceptions of genomic newborn screening: a cross-sectional survey conducted with UK medical students.
Lydia Seed, Anna Scott, Amanda Pichini, Michelle Peter, Shereen Tadros

BMJ Open· September 2024

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A cross-professional competency framework for communicating genomic results.
Amanda Pichini, Kate Tatton-Brown, Ellen Thomas, Michelle Bishop

J Genet Couns· February 2024

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The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review.
Germán Andrés Alarcón Garavito, Thomas Moniz, Noémie Déom, Federico Redin, Amanda Pichini

Eur J Hum Genet· March 2023

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A nationally agreed cross-professional competency framework to facilitate genomic testing.
Amanda Pichini, Michelle Bishop

Genet Med· August 2022

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A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.
Alexander J M Blakes, Htoo A Wai, Ian Davies, Hassan E Moledina, April Ruiz, Amanda Pichini

Genome Med· July 2022

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Newborn Screening by Genomic Sequencing: Opportunities and Challenges.
David Bick, Arzoo Ahmed, Dasha Deen, Alessandra Ferlini, Nicolas Garnier, Amanda Pichini

Int J Neonatal Screen· July 2022

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Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design.
Amanda Pichini, Arzoo Ahmed, Christine Patch, David Bick, Mathilde Leblond

Front Genet· May 2022

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Experience with genetic counseling: the adolescent perspective.
Amanda Pichini, Cheryl Shuman, Karen Sappleton, Miriam Kaufman, David Chitayat

J Genet Couns· June 2016

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