Members

Marta Codina Sola (PhD Student)

Raquel Flores Peirats (Research Assistant)

Marcos López Sánchez (PhD Student)

Andrés Medrano Muñoz (Researcher)

Judith Reina Castillón (PhD Student)

Maria Segura Puimedon (Researcher)

 

• Main Publications with IMIM
• Ongoing Research Projects with IMIM

Main Publications with IMIM

• Abulí A, Boada M, Rodríguez-Santiago B, Coroleu B, Veiga A, Armengol L, Barri PN, Pérez-Jurado LA, Estivill X. NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. Hum Mutat 2016; 37(6): 516-523. IF 5.089. Q1.

• Borralleras C, Mato S, Amédée T, Matute C, Mulle C, Pérez-Jurado LA, Campuzano V. Synaptic plasticity and spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome. Mol Brain 2016; 9(1):76. IF 3.745. Q2.

• Cáceres A, Esko T, Pappa I, Gutiérrez-Arumí A, López-Espinosa MJ, Llop S, Bustamante M, Tiemeier H, Metspalu A, Joshi PK, Wilsonx JF, Reina-Castillón J, Shin J, Pausova Z, Paus T, Sunyer J, Pérez-Jurado LA, González JR. Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence. PLoS ONE 2016; 11(6): e0157739. IF 3.057. Q1

• Dauber A, Muñoz-Calvo MT, Barrios V, Domené HM, Kloverpris S, Serra-Juhé C, Desikan V, Pozo J, Muzumdar R, Martos-Moreno GA, Hawkins F, Jasper HG, Conover CA, Frystyk J, Yakar S, Hwa V, Chowen JA, Oxvig C, Rosenfeld RG, Pérez-Jurado LA, Argente J. Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability. EMBO Mol Med 2016; 8(4): 363-374. IF 9.547. Q1.

• Homs A, Codina-Solà M, Rodríguez-Santiago B, Villanueva CM, Monk D, Cuscó I, Pérez-Jurado LA. Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders. Transl Psychiatry 2016; 6(7): e855. IF 5.538. Q1.

• Marcos J, Renau N, Valverde O, Aznar G, Gracia-Rubio I, González-Sepúlveda M, Pérez-Jurado LA, Ventura R, Segura J, Pozo O. Targeting tryptophan and tyrosine metabolism by liquid chromatography tandem mass spectrometry. J Chromatogr A 2016; 1434: 91-101. IF 3.926. Q1.

• Muñoz-Calvo MT, Barrios V, Pozo J, Chowen JA, Martos-Moreno GÁ, Hawkins F, Dauber A, Domené HM, Yakar S, Rosenfeld RG, Pérez-Jurado LA, Oxvig C, Frystyk J, Argente J. Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency. J Clin Endocrinol Metab 2016; 101(11): 3879-3883. IF 5.531. Q1.

• Zhou W, Machiela MJ, Freedman ND, Rothman N, Malats N, Dagnall C, Caporaso N, Teras LT, Gaudet MM, Gapstur SM, Stevens VL, Jacobs KB, Sampson J, Albanes D, Weinstein S, Virtamo J, Berndt S, Hoover RN, Black A, Silverman D, Figueroa J, García-Closas M, Real FX, Earl J, Marenne G, Rodríguez-Santiago B, Karagas M, Johnson A, Schwenn M, Wu X, Gu J, Ye Y, Hutchinson A, Tucker M, Pérez-Jurado LA, Dean M, Yeager M, Chanock SJ. Mosaic loss of chromosome Y is associated with common variation near TCL1A. Nat Genet 2016; 48(5): 563-568. IF 31.616. Q1.