S. Tahsin-Swafiri

发表

The prevalence of vitamin deficiency in clinical practice is assay-dependent.

I. Millán, F. Granado-Lorencio, I. Blanco-Navarro, 2012, Clinical nutrition.

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

H. Hakonarson, L. Tian, M. Cortón, 2018, Scientific Reports.

Genomic Landscape of Sporadic Retinitis Pigmentosa: Findings from 877 Spanish Cases.

M. Cortón, C. Ayuso, A. Avila-Fernandez, 2019, Ophthalmology.

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

B. Gener, M. Cortón, C. Ayuso, 2018, Front. Genet..

Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability

H. Hakonarson, C. Ayuso, M. López-Molina, 2017, Journal of Medical Genetics.

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

H. Hakonarson, M. Cortón, C. Ayuso, 2018, Scientific Reports.

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders

C. Ayuso, A. Avila-Fernandez, B. Almoguera, 2021, npj Genomic Medicine.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature.

Lago, I. Mahillo, B. Gener, 2022, medRxiv.

The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant

Q. Waisfisz, S. Julia, D. Wieczorek, 2023, European Journal of Human Genetics.

Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes

C. Ayuso, A. Avila-Fernandez, B. Almoguera, 2021, Scientific Reports.

Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients

Lago, I. Mahillo, B. Gener, 2022, Journal of Medical Genetics.