Amanda Pichini

Affiliations

Genomics Education Programme, Health Education England, Birmingham, United Kingdom; Bristol Clinical Genetics Service, Department of Clinical Genetics, St Michael's Hospital, Bristol, United Kingdom; Genomics England, London, United Kingdom. Electronic address: amanda.pichini@genomicsengland.co.uk.

Publications (9)

A nationally agreed cross-professional competency framework to facilitate genomic testing.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Amanda Pichini , Michelle Bishop

Newborn Screening by Genomic Sequencing: Opportunities and Challenges.

International journal of neonatal screening

Avec: David Bick , Arzoo Ahmed , Dasha Deen , Alessandra Ferlini , Nicolas Garnier , Dalia Kasperaviciute , Mathilde Leblond , Amanda Pichini , Augusto Rendon , Aditi Satija , Alice Tuff-Lacey , Richard H Scott

Co-creating the experience of consent for newborn genome sequencing (The Generation Study).

Public health genomics

Avec: Mathilde Leblond , Mirabai Galati , Jonathan Roberts , Harriet Etheredge , Nancy Willacy , Öznur Özkurt , Amanda Pichini

Perceptions of genomic newborn screening: a cross-sectional survey conducted with UK medical students.

BMJ open

Avec: Lydia Seed , Anna Scott , Amanda Pichini , Michelle Peter , Shereen Tadros , Cristine Sortica da Costa , Melissa Hill

Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design.

Frontiers in genetics

Avec: Amanda Pichini , Arzoo Ahmed , Christine Patch , David Bick , Mathilde Leblond , Dalia Kasperaviciute , Dasha Deen , Simon Wilde , Sofia Garcia Noriega , Christella Matoko , Alice Tuff-Lacey , Chris Wigley , Richard H Scott

A cross-professional competency framework for communicating genomic results.

Journal of genetic counseling

Avec: Amanda Pichini , Kate Tatton-Brown , Ellen Thomas , Michelle Bishop

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.

Genome medicine

Avec: Alexander J M Blakes , Htoo A Wai , Ian Davies , Hassan E Moledina , April Ruiz , Tessy Thomas , David Bunyan , N Simon Thomas , Christine P Burren , Lynn Greenhalgh , Melissa Lees , Amanda Pichini , Sarah F Smithson , Ana Lisa Taylor Tavares , Peter O'Donovan , Andrew G L Douglas , Auteur inconnu , Nicola Whiffin , Diana Baralle , Jenny Lord

The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review.

European journal of human genetics : EJHG

Avec: Germán Andrés Alarcón Garavito , Thomas Moniz , Noémie Déom , Federico Redin , Amanda Pichini , Cecilia Vindrola-Padros

Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation.

European journal of human genetics : EJHG

Avec: Holly Ellard , Angus Clarke , Sarah Wynn , Amanda Pichini , Celine Lewis

Réseau de co-auteurs

Mathilde Leblond 3 collaborations

Michelle Bishop 2 collaborations

David Bick 2 collaborations

Arzoo Ahmed 2 collaborations

Dasha Deen 2 collaborations

Dalia Kasperaviciute 2 collaborations

Alice Tuff-Lacey 2 collaborations

Richard H Scott 2 collaborations

Alessandra Ferlini 1 collaboration

Nicolas Garnier 1 collaboration

Augusto Rendon 1 collaboration

Aditi Satija 1 collaboration

Mirabai Galati 1 collaboration

Jonathan Roberts 1 collaboration

Harriet Etheredge 1 collaboration

Nancy Willacy 1 collaboration

Öznur Özkurt 1 collaboration

Lydia Seed 1 collaboration

Anna Scott 1 collaboration

Michelle Peter 1 collaboration

Shereen Tadros 1 collaboration

Cristine Sortica da Costa 1 collaboration

Melissa Hill 1 collaboration

Christine Patch 1 collaboration

Simon Wilde 1 collaboration

Sofia Garcia Noriega 1 collaboration

Christella Matoko 1 collaboration

Chris Wigley 1 collaboration

Kate Tatton-Brown 1 collaboration

Ellen Thomas 1 collaboration

Alexander J M Blakes 1 collaboration

Htoo A Wai 1 collaboration

Ian Davies 1 collaboration

Hassan E Moledina 1 collaboration

April Ruiz 1 collaboration

Tessy Thomas 1 collaboration

David Bunyan 1 collaboration

N Simon Thomas 1 collaboration

Christine P Burren 1 collaboration

Lynn Greenhalgh 1 collaboration

Melissa Lees 1 collaboration

Sarah F Smithson 1 collaboration

Ana Lisa Taylor Tavares 1 collaboration

Peter O'Donovan 1 collaboration

Andrew G L Douglas 1 collaboration

None None 1 collaboration

Nicola Whiffin 1 collaboration

Diana Baralle 1 collaboration

Jenny Lord 1 collaboration

Germán Andrés Alarcón Garavito 1 collaboration

Thomas Moniz 1 collaboration

Noémie Déom 1 collaboration

Federico Redin 1 collaboration

Cecilia Vindrola-Padros 1 collaboration

Holly Ellard 1 collaboration

Angus Clarke 1 collaboration

Sarah Wynn 1 collaboration

Celine Lewis 1 collaboration