Martina Owens

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort

Judit Dénes, Francesca Swords, Eleanor Rattenberry et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 184 citations · Full text

Medicine, Endocrinology, Genetics +17

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari et al. · Human Genetics · 2016 · 170 citations · Full text

Medicine, Clinical Sciences, Pathology +13

Hepatocyte nuclear factor-1  gene deletions--a common cause of renal disease

Emma L. Edghill, Richard A. Oram, Martina Owens et al. · Nephrology Dialysis Transplantation · 2007 · 107 citations

Medicine, Genetics, Molecular Genetics +17

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Cara Skraban, Constance Wells, Preetha Markose et al. · The American Journal of Human Genetics · 2017 · 92 citations

Life Sciences, Neurology, Neuroscience +12