Publicacións en colaboración con investigadores/as de Università de Roma La Sapienza (19)

2019

  1. HPLC-MS/MS combined with membrane-protected molecularly imprinted polymer micro-solid-phase extraction for synthetic cathinones monitoring in urine

    Drug Testing and Analysis, Vol. 11, Núm. 1, pp. 33-44

  2. Newborn screening for homocystinurias: Recent recommendations versus current practice

    Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139

2018

  1. Development of a micro-solid-phase extraction molecularly imprinted polymer technique for synthetic cannabinoids assessment in urine followed by liquid chromatography–tandem mass spectrometry

    Journal of Chromatography A, Vol. 1550, pp. 8-20

2017

  1. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

  2. Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection

    International Journal of Legal Medicine, Vol. 131, Núm. 5, pp. 1211-1219

2016

  1. Mapping human dispersals into the Horn of Africa from Arabian Ice Age refugia using mitogenomes

    Scientific Reports, Vol. 6

  2. Whole mitochondrial DNA sequencing in Alpine populations and the genetic history of the Neolithic Tyrolean Iceman

    Scientific Reports, Vol. 6

2014

  1. Infections, antibiotic treatment and mortality in patients admitted to ICUs in countries considered to have high levels of antibiotic resistance compared to those with low levels

    BMC Infectious Diseases, Vol. 14, Núm. 1

  2. The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics

    Electrophoresis, Vol. 35, Núm. 21-22, pp. 3134-3144

2013

  1. Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study

    Pediatrics, Vol. 131, Núm. 6

2011

  1. Deletion of LCE3C and LCE3B is a susceptibility factor for psoriatic arthritis: A study in Spanish and Italian populations and meta-analysis

    Arthritis and Rheumatism, Vol. 63, Núm. 7, pp. 1860-1865

  2. Fast GC-MS method for the simultaneous screening of THC-COOH, cocaine, opiates and analogues including buprenorphine and fentanyl, and their metabolites in urine

    Analytical and Bioanalytical Chemistry, Vol. 399, Núm. 4, pp. 1623-1630

2010

  1. Identification of a novel MYBPC3 gene variant in a patient with hypertrophic cardiomyopathy

    Annals of Clinical and Laboratory Science, Vol. 40, Núm. 3, pp. 285-289

  2. Management of phenylketonuria in Europe: Survey results from 19 countries

    Molecular Genetics and Metabolism, Vol. 99, Núm. 2, pp. 109-115

2009

  1. A rapid method for the extraction, enantiomeric separation and quantification of amphetamines in hair

    Forensic Science International, Vol. 193, Núm. 1-3, pp. 95-100

  2. Distinctive Paleo-Indian Migration Routes from Beringia Marked by Two Rare mtDNA Haplogroups

    Current Biology, Vol. 19, Núm. 1, pp. 1-8

2005

  1. Traqueostomía percutánea bajo control endoscópico en adolescentes

    Anales de Pediatria, Vol. 63, Núm. 2, pp. 160-163

  2. Ventilación no invasiva con heliox en un lactante con síndrome de dificultad respiratoria aguda

    Anales de Pediatria, Vol. 62, Núm. 1, pp. 64-67

2004

  1. The African Diaspora: Mitochondrial DNA and the Atlantic Slave Trade

    American Journal of Human Genetics, Vol. 74, Núm. 3, pp. 454-465