Publicaciones en colaboración con investigadores/as de Yale School of Medicine (7)

2024

  1. An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)

    Kidney International, Vol. 105, Núm. 5, pp. 1058-1076

  2. Erratum to “An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).” Kidney International 2023;105:1058–1076 (Kidney International (2024) 105(5) (1058–1076), (S0085253824000978), (10.1016/j.kint.2024.01.031))

    Kidney International

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

1999

  1. Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease

    Journal of the American Society of Nephrology, Vol. 10, Núm. 11, pp. 2342-2351

  2. Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

    Nature Genetics, Vol. 21, Núm. 1, pp. 84-90

1998

  1. Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

    Proceedings of the National Academy of Sciences of the United States of America, Vol. 95, Núm. 11, pp. 6337-6342

1992

  1. Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers

    Genomics, Vol. 13, Núm. 1, pp. 152-158