Ana Berta Sousa

PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

Anil K. Agarwal, Chao Xing, George Demartino et al. · The American Journal of Human Genetics · 2010 · 329 citations

Life Sciences, Molecular Biology, Molecular Genetics +16

AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data

Mathieu Quinodoz, Virginie G. Peter, Nicola Bedoni et al. · Nature Communications · 2021 · 168 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

An Autosomal Recessive Syndrome of Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Associated Lipodystrophy

Abhimanyu Garg, Ana Berta Sousa, Lalitha Subramanyam et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 102 citations · Full text

Medicine, Dermatology, Endocrinology +17

Common Germinal-Center B-Cell Origin of the Malignant Cells in Two Composite Lymphomas, Involving Classical Hodgkin’s Disease and Either Follicular Lymphoma or B-CLL

Ralf Küppers, Ana Berta Sousa, Audrey Sylvia Baur et al. · Molecular Medicine · 2001 · 98 citations · Full text

Medicine, Hematology, Pathology +11

Adult B-cell acute lymphoblastic leukemia cells display decreased PTEN activity and constitutive hyperactivation of PI3K/Akt pathway despite high PTEN protein levels

Ana Margarida Gomes, Maria V. D. Soares, Patrick Rasmussen Ribeiro et al. · Haematologica · 2014 · 85 citations · Full text

Medicine, Cancer Biology, Oncology +16