List of works - Elena Vallespín

A new overgrowth syndrome is due to mutations in RNF125.

scientific article published in December 2014

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

scientific article published on 28 August 2015

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

scientific article published in 2021

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

scientific article

Gene symbol: ABCA4. Disease: Macular dystrophy

scientific article published in June 2008

Gene symbol: ABCA4. Disease: Macular dystrophy

scientific article published in October 2008

Gene symbol: ABCA4. Disease: Macular dystrophy

Gene symbol: CRB1

Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510

scientific article published in February 2006

Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile

scientific article published on June 1, 2008

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis

scientific article published in December 2005

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

scientific article published on 21 February 2018

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

scientific article

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

scientific article published on 8 April 2015

Somatic activating mutations in cause generalized lymphatic anomaly

scientific article published on 27 December 2018

The impact of next-generation sequencing on the DNA methylation-based translational cancer research

scientific article

List of works by Elena Vallespín

A new overgrowth syndrome is due to mutations in RNF125.

Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor

Expanding the Phenotypic Spectrum of PAX6 Mutations: From Congenital Cataracts to Nystagmus

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

Gene symbol: ABCA4. Disease: Macular dystrophy

Gene symbol: ABCA4. Disease: Macular dystrophy

Gene symbol: ABCA4. Disease: Macular dystrophy

Gene symbol: ABCA4. Disease: Macular dystrophy

Gene symbol: CRB1

Gene symbol: CRB1. Disease: Leber congenital amaurosis. Accession #Hd0510

Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome.

Somatic activating mutations in cause generalized lymphatic anomaly

The impact of next-generation sequencing on the DNA methylation-based translational cancer research