Martina Owens

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 · 180 citations · Full text

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemysław Szafrański, Tomasz Gambin, Avinash V. Dharmadhikari et al. · Human Genetics · 2016 · 155 citations · Full text

Pulmonary Circulation, Vascular Malformation, Pathology +4

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

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 · 90 citations · Full text

Intellectual Impairment, Corticobasal Degeneration, Neurological Disorder +7

Pitfalls of haplotype phasing from amplicon-based long-read sequencing

Thomas W. Laver, Richard Caswell, Karen Moore et al. · Scientific Reports · 2016 · 84 citations · Full text