Publication & Citation Trends
Publications
0 total
Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases OA
Cited by 20
Semantic Scholar
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities OA
Cited by 24
Semantic Scholar
Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities OA
Cited by 1
Semantic Scholar
Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization OA
Cited by 14
Semantic Scholar
Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples OA
Cited by 55
Semantic Scholar
Refscope: A reference sequence, prior-knowledge system used to assess 10X Genomic Chromium System efficiency in neutralizing repeat noise
Cited by 0
Semantic Scholar
Variations of SOST mRNA expression in human bone are associated with DNA polymorphism and DNA methylation in the SOST gene.
Cited by 22
Semantic Scholar
Maladaptative autophagy impairs adipose function 1 in Congenital Generalized Lipodystrophy due to cavin-1 deficiency 2 3
Cited by 0
Semantic Scholar
Research Topics
Genetic Associations and Epidemiology
(12)
Genetics and Neurodevelopmental Disorders
(9)
Nuclear Structure and Function
(8)
RNA and protein synthesis mechanisms
(7)
RNA Research and Splicing
(7)
Affiliations
Albert Einstein College of Medicine
Universidad de Cantabria
Institut national de l’information géographique et forestière
Karolinska University Hospital
Centre for Human Genetics