P Bignell

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Jenny C. Taylor, Hilary C. Martin, Stefano Lise et al. · Nature Genetics · 2015 · 388 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene

IR Peake, D. Bowen, P Bignell et al. · Blood · 1990 · 159 citations

Life Sciences, Genetics, Molecular Genetics +15

Cardiac iron overload in transfusion‐dependent patients with myelodysplastic syndromes

Noémi Roy, Saul Myerson, Anna Schuh et al. · British Journal of Haematology · 2011 · 59 citations

Medicine, Hematology, Radiology +14

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis

Marc Vila Cuenca, Giacomo Marchi, Anna Barqué et al. · International Journal of Molecular Sciences · 2020 · 43 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

SOX3 Deletion in Mouse and Human Is Associated With Persistence of the Craniopharyngeal Canal

Kyriaki S. Alatzoglou, A. Azriyanti, Nicholas Rogers et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 42 citations · Full text

Medicine, Endocrinology, Genetics +17