Isabel Fernández

Exome sequencing identifies mutations in the gene <i>TTC7A</i> in French-Canadian cases with hereditary multiple intestinal atresia

Mark E. Samuels, Jacek Majewski, Najmeh Alirezaie et al. · Journal of Medical Genetics · 2013 · 135 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans

Ferrán Casals, Alan Hodgkinson, Julie Hussin et al. · PLoS Genetics · 2013 · 92 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination

Joke Vandewalle, Hilde Van Esch, Karen Govaerts et al. · The American Journal of Human Genetics · 2009 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Cutaneous Follicular B-Cell Lymphoma

Renato Franco, Amalia Fernández-Vázquez, José Luis Rodríguez‐­Peralto et al. · The American Journal of Surgical Pathology · 2001 · 70 citations

Medicine, Oncology, Pathology +17

Transcriptional signature of Ecteinascidin 743 (Yondelis, Trabectedin) in human sarcoma cells explanted from chemo-naive patients

Nerea Martı́nez, Margarita Sánchez‐Beato, Amancio Carnero et al. · Molecular Cancer Therapeutics · 2005 · 50 citations · Full text

Medicine, Oncology, Pharmacology +16