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Frances Smith
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Journal Articles

A method for noninvasive prenatal diagnosis of monogenic autosomal recessive disorders

Anthony Cutts, Dimitrios V. Vavoulis, Mary Petrou, Frances Smith, Barnaby Clark, Shirley Henderson, Anna Schuh
Journal: Blood
Blood (2019) 134 (14): 1190–1193.
https://doi.org/10.1182/blood.2019002099
Published: 2019
Includes: Supplemental data
Journal Articles

A Review of 1000 Molecular Investigations of Rare Inherited Anaemia and Related Conditions with the Red Cell Gene Panel

Rachel Mayhew, Frances Smith, Laura Steedman, Nicholas Parkin, Eva Moldes Beiro, Peter Rushton, Alison Bybee, David Brawand, Judith Marsh, Austin G. Kulasekararaj, MBBS, MD MRCP, FRCPath, Shreyans Ghandi, Sahar Mansour, Ghulam Mufti, Antonio Pagliuca, Subarna Chakravorty, David C Rees, Barnaby Clark
Journal: Blood
Blood (2018) 132 (Supplement 1): 3609.
https://doi.org/10.1182/blood-2018-99-118799
Published: 2018
Journal Articles

Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias

Noemi Roy, MBBCH, MD, Melanie Proven, PhD, Irene Roberts, MD, Hannah Tamary, MD, Dorine W. Swinkels, MD PhD, Aguilar-Martinez Patricia, MD PhD, Paola Bianchi, BSc, PhD, Raffaella Colombatti, MD PhD, Roberta Russo, Barnaby Clark, Mayka Sanchez, MD, Rafael Andres DEL Orbe Barreto, Elisa Fermo, PhD, Vip Viprakasit, MD DPhil, Jiraporn Korchuenjit, BSc, Tabita Magalhães Maia, MD, Frances Smith, BSc, Maria del Mar Manu, BSc, PhD, Lydie Da Costa, Antonio Marzollo, Anabelen Hozdelarastrollo, Beatriz Arrizabalaga, MD PhD, Delasalle Barbara, Achille Iolascon, MD PhD
Journal: Blood
Blood (2018) 132 (Supplement 1): 4936.
https://doi.org/10.1182/blood-2018-99-111609
Published: 2018
Journal Articles

A Comprehensive Next Generation Sequencing Gene Panel Focused on Unexplained Anemia

Frances Smith, David Brawand, Laura Steedman, Matthew Oakley, Christopher Wall, Peter Rushton, Margaret Allchurch, Keith Sibson, Claire Jane Hemmaway, MD, Swee Lay Thein, MD DSc, David C. Rees, FRCP, FRCPath, MA, MBBS, Barnaby E. Clark, PhD
Journal: Blood
Blood (2015) 126 (23): 946.
https://doi.org/10.1182/blood.V126.23.946.946
Published: 2015
Journal Articles

Characterisation of Three Unique Head-to-Tail Alpha Globin Cluster Duplications Contributing to Beta Thalassemia Intermedia in 3 Families

Barnaby E. Clark, PhD, Claire C. Shooter, Frances Smith, David Brawand, Laura Steedman, Matthew Oakley, Peter Rushton, Helen Rooks, Xunde Wang, PhD, Anthi Drousiotou, Andriani Kyrri, Xenia Felekis, Miranda Petrou, Andrew M Will, MD, Chris Fisher, PhD, Douglas R. Higgs, FRS, Cornelius Harteveld, Marion Phylipsen, Marina Kleanthous, PhD, Swee Lay Thein, MD DSc
Journal: Blood
Blood (2015) 126 (23): 3375.
https://doi.org/10.1182/blood.V126.23.3375.3375
Published: 2015