Raquel M. Fernández

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

E. Aller, S. Borrego, C. Hernández-Chico, 2018, Neuromuscular Disorders.

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

E. Grice, A. McCallion, A. Chakravarti, 2010, American journal of human genetics.

Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.

W. V. van IJcken, A. Chakravarti, S. Borrego, 2013, Developmental Biology.

Germline sequence variant S836S in the RET proto‐oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population

S. Borrego, G. Antiñolo, C. Eng, 2001, Clinical endocrinology.

Hirschsprung disease, associated syndromes and genetics: a review

A Chakravarti, G Burzynski, Erasmus Mc, 2001, Journal of Medical Genetics.

Association of X‐linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene

S. Borrego, G. Antiñolo, R. Fernández, 2012, American journal of medical genetics. Part A.

Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease.

P. Sham, P. Tam, A. Chakravarti, 2016, Human molecular genetics.

A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and Its Correlation With Molecular Genetics

S. Borrego, E. Galán-Gómez, J. Ruiz-Contreras, 2016, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients

S. Borrego, G. Antiñolo, B. Luzón-Toro, 2015, BMC Medical Genetics.