Page 95 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
ZaZo seco c, serrão de castro l, Van nieroP JW, morín m, Jhangiani s, VerVer eJ, et al. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Uni- lateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet. 2015 Nov 5;97(5):647-60. Incluye contratado CIBERER. Q1 Genetics & Heredity (6/167). IF= 10.931.
roJnueangnit K, xie J, gomes a , sharP a, callens t, liu Y, et al. High Incidence of Noonan Syndrome Features
hernándeZ-imaZ e, martín Y, de conti l, melean g, Vale- ro a, Baralle e, hernándeZ-chico c. Functional analysis of splicing mutations in NF1 exon 9 reveals the presence of several splicing regulatory elements. PLoS One. 2015 Oct 28;10(10):e0141735. Q1 Multidisciplinary Sciences (9/57). IF=3.234.
santarelli r, del castillo i, cama e, scimemi P, starr a. Audibility, speech perception and processing of tempo- ral cues in ribbon synaptic disorders due to OTOF muta-
including short stature and Pulmonic Stenosis in patients carrying NF1 Missense Mutations affecting p.Arg1809: Genotype-Phenotype Correlation. Hum Mutat. 2015 Nov 36(11):1052-63. Q1 Genetics & Heredity (25/167). IF= 5.340.
seco cZ, oonK am, domíngueZ-ruiZ m, draaisma Jm, gandía m, oostriK J, neVeling K, Kunst hP, hoeFsloot lh, del castillo i, Pennings rJ, Kremer h, admiraal rJ, schraders m. Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense muta- tion in CLIC5. Eur J Hum Genet. 2015; 23(2):189-94. Q1 Genetics & Heredity (36/167). IF= 4,349.
Highlights
The group continues to work actively on translational research on rare diseases in the field of sensorineural disorders studying the genetic-molecular basis and the mechanisms of pathogenesis behind hereditary hearing loss and disorders of the anterior segment of the eye. Other research interests include studies of neurofibromatosis type I and II. During the 2015 annu- ity we want to highlight the following achievements:
• Identification of a new gene for hereditary hearing loss, KITLG, being the first to be associated with uni- lateral and asymmetric deafness.
• Participation in 3 intramural actions financed (ACCI): A) Spänex; B) Development of a diagnostic platform for next generation sequencing and C) New cellular and animal models of neurosensory rare diseases generated by CRISPR.
• Organization and numerous teaching and training activities related to rare diseases:
tions. Hear Res. 2015; 330(Pt B):200-12. Q1 (primer decil) Otorhinolaryngology (2/44). IF= 2,968.
gandía m, FernándeZ-toral J, solanellas J, domíngueZ- ruiZ m, gómeZ-rosas e, del castillo FJ, Villamar m, moreno-PelaYo ma, del castillo i. Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling. Pediatr Res. 2015; 78(1):97-102. Q1 Pediatrics (29/120) Incluye contratado CIBERER IF= 2,314.
A) International Symposium on hereditary hearing loss Ramón Areces Foundation.
B) Course CIBERER on functional assays as alterna- tive to mouse models.
C) 1st day of Human Genome Heritage.
D) 3rd day clinical genetics of the Community of Madrid.
E) Biomedical Technologies Master in Management and Development of the UC3M.
F) Specialization Postgraduate Course in Clinical Genetics at the University of Alcala de Henares.
• Contracts and commercial exploitation licenses in progress with various companies: Genycell, Ge- nome Systems, SECUGEN and ATOS / BULL.
• The U728 has seven active research projects fund- ed by public and private (5 projects FIS, 1 draft the Ramón Areces Foundation and 1 draft ONCE.
Institution: Servicio Madrileño de Salud · Contact: Hospital Ramon y Cajal · Ctra. de Colmenar, km 9.1. 28034 Madrid · Tel.: 91 336 85 41/ 91 336 89 66 · E.mail: [email protected]
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