Prenatal Whole Exome Sequencing; the Views of Clinicians, Scientists, Genetic Counsellors and Patient Representatives

Autor: Quinlan-Jones, E, Kilby, MD, Greenfield, S, Parker, Michael, McMullan, D, Hurles, M, Hillman, SC, Prenatal Assessment of Genomes and Exomes (PAGE) Study Collaborative Group

Objective Focus groups were conducted with individuals involved in prenatal diagnosis to determine their opinions relating to WES in fetuses with structural anomalies. Method Five representatives of patient groups/charities (PRGs) and eight clinical

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b048456ca6551a4cdf537aac736d61aa
https://ora.ox.ac.uk/objects/uuid:91566a9c-e182-4253-8f0a-1d3ce9eb4852

Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data: does increased diagnostic power outweigh the dilemma of rare variants.

Autor: Hillman, SC, McMullan, DJ, Maher, ER, Kilby, MD

Publikováno v: BJOG: An International Journal of Obstetrics & Gynaecology; Sep2013, Vol. 120 Issue 10, p1296-1296, 6p

Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies.

Autor: Hillman, SC, McMullan, DJ, Maher, ER, Kilby, MD

Publikováno v: BJOG: An International Journal of Obstetrics & Gynaecology; Sep2012, Vol. 119 Issue 10, p1281-1282, 0p

Women's experiences of diagnosis and management of polycystic ovary syndrome: a mixed-methods study in general practice.

Autor: Hillman SC; National Institute for Health Research clinical lecturer in primary care., Bryce C; Unit of Academic Primary Care, Warwick Medical School, University of Warwick, Coventry., Caleyachetty R; Unit of Academic Primary Care, Warwick Medical School, University of Warwick, Coventry., Dale J; Unit of Academic Primary Care, Warwick Medical School, University of Warwick, Coventry.

Publikováno v: The British journal of general practice : the journal of the Royal College of General Practitioners [Br J Gen Pract] 2020 Apr 30; Vol. 70 (694), pp. e322-e329. Date of Electronic Publication: 2020 Apr 30 (Print Publication: 2020).

Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly.

Autor: Quinlan-Jones E; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Hillman SC; Unit of Primary Care, Warwick Medical School, University of Warwick, Birmingham, UK., Kilby MD; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Birmingham Centre for Women's and New-born Health, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK., Greenfield SM; Institute of Applied Health Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.

Publikováno v: Prenatal diagnosis [Prenat Diagn] 2017 Dec; Vol. 37 (12), pp. 1225-1231. Date of Electronic Publication: 2017 Nov 10.