Murat Sincan

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky et al. · Nucleic Acids Research · 2018 · 737 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +17

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

William A. Gahl, Thomas C. Markello, Camilo Toro et al. · Genetics in Medicine · 2012 · 293 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Characteristics of Congenital Hepatic Fibrosis in a Large Cohort of Patients With Autosomal Recessive Polycystic Kidney Disease

Meral Gunay‐Aygun, Esperanza Font–Montgomery, Linda Lukose et al. · Gastroenterology · 2012 · 179 citations · Full text

Medicine, Genetics, Pathology +16

Detecting false-positive signals in exome sequencing

Karin V. Fuentes Fajardo, David R. Adams, Christopher E. Mason et al. · Human Mutation · 2012 · 164 citations

Life Sciences, Genetics, Molecular Genetics +17

Deep Geodesic Learning for Segmentation and Anatomical Landmarking

Neslisah Torosdagli, Denise K. Liberton, Payal Verma et al. · IEEE Transactions on Medical Imaging · 2018 · 147 citations · Full text

Dentistry, Anatomy, Radiology +17