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Daniel Trujillano
Daniel Trujillano
Reference Laboratory
Verified email at referencelaboratory.es
Title
Cited by
Cited by
Year
Clinical exome sequencing: results from 2819 samples reflecting 1000 families
D Trujillano, AM Bertoli-Avella, K Kumar Kandaswamy, MER Weiss, ...
European Journal of Human Genetics 25 (2), 176-182, 2017
3572017
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
H Louis-Dit-Picard, J Barc, D Trujillano, S Miserey-Lenkei, N Bouatia-Naji, ...
Nature genetics 44 (4), 456-460, 2012
3372012
Long noncoding RNAs, chromatin, and development
DP Caley, RC Pink, D Trujillano, DRF Carter
The Scientific World Journal 10, 90-102, 2010
2232010
Mutations in DCHS1 cause mitral valve prolapse
R Durst, K Sauls, DS Peal, A Devlaming, K Toomer, M Leyne, M Salani, ...
Nature 525 (7567), 109-113, 2015
1962015
Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next‐generation sequencing
D Trujillano, G Bullich, S Ossowski, J Ballarín, R Torra, X Estivill, E Ars
Molecular genetics & genomic medicine 2 (5), 412-421, 2014
952014
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity
G Bullich, D Trujillano, S Santín, S Ossowski, S Mendizábal, G Fraga, ...
European Journal of Human Genetics 23 (9), 1192-1199, 2015
882015
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy
KM Girisha, A Shukla, D Trujillano, GS Bhavani, M Hebbar, R Kadavigere, ...
Clinical genetics 90 (6), 536-539, 2016
752016
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans
K Lohmann, I Masuho, DN Patil, H Baumann, E Hebert, S Steinrücke, ...
Human molecular genetics 26 (6), 1078-1086, 2017
632017
A comprehensive global genotype–phenotype database for rare diseases
D Trujillano, GE Oprea, Y Schmitz, AM Bertoli‐Avella, R Abou Jamra, ...
Molecular genetics & genomic medicine 5 (1), 66-75, 2017
592017
Asparagine synthetase deficiency: new inborn errors of metabolism
M Alfadhel, MT Alrifai, D Trujillano, H Alshaalan, A Al Othaim, ...
JIMD Reports, Volume 22, 11-16, 2015
592015
Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer
D Trujillano, MER Weiss, J Schneider, J Köster, EB Papachristos, ...
The Journal of molecular diagnostics 17 (2), 162-170, 2015
572015
Contribution of the TTC21B gene to glomerular and cystic kidney diseases
G Bullich, I Vargas, D Trujillano, S Mendizábal, JA Pinero-Fernandez, ...
Nephrology Dialysis Transplantation 32 (1), 151-156, 2017
522017
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR
D Trujillano, MD Ramos, J González, C Tornador, F Sotillo, G Escaramis, ...
Journal of Medical Genetics 50 (7), 455-462, 2013
502013
Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing
D Trujillano, B Perez, J González, C Tornador, R Navarrete, G Escaramis, ...
European Journal of Human Genetics 22 (4), 528-534, 2014
472014
Validation of a semiconductor next‐generation sequencing assay for the clinical genetic screening of CFTR
D Trujillano, MER Weiss, J Köster, EB Papachristos, M Werber, ...
Molecular genetics & genomic medicine 3 (5), 396-403, 2015
242015
Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: a pilot study in patients from the state of Qatar
N Al-Dewik, T Ben-Omran, H Zayed, D Trujillano, S Kishore, A Rolfs, ...
Gene 689, 34-42, 2019
222019
Extensive sequence analysis of CFTR, SCNN1A, SCNN1B, SCNN1G and SERPINA1 suggests an oligogenic basis for cystic fibrosis‐like phenotypes
MD Ramos, D Trujillano, R Olivar, F Sotillo, S Ossowski, J Manzanares, ...
Clinical genetics 86 (1), 91-95, 2014
222014
Whole exome sequencing in a rare disease: a patient with anomalous left coronary artery from the pulmonary artery (Bland-White-Garland Syndrome)
N Hekim, T Batyraliev, D Trujillano, W Wang, C Dandara, Z Karben, ...
OMICS: A Journal of Integrative Biology 20 (5), 325-327, 2016
82016
Homozygous deletion of exons 2 and 3 of NPC2 associated with Niemann–Pick disease type C
M Hebbar, AD Bhowmik, D Trujillano, A Shukla, S Chakraborti, ...
American journal of medical genetics. Part A 170 (9), 2486, 2016
62016
A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype—c. 4096A> T
AB Arslan, AG Zamani, S Pekcan, MS Yıldırım
Journal of Pediatric Genetics 9 (01), 040-043, 2020
22020
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