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 | 362 | 2017 |
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 | 346 | 2012 |
Long noncoding RNAs, chromatin, and development DP Caley, RC Pink, D Trujillano, DRF Carter The Scientific World Journal 10 (1), 90-102, 2010 | 224 | 2010 |
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 | 202 | 2015 |
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 | 93 | 2014 |
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 | 88 | 2015 |
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 | 77 | 2016 |
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 | 68 | 2017 |
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 | 62 | 2015 |
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 | 60 | 2017 |
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 | 58 | 2015 |
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 | 50 | 2017 |
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 | 50 | 2013 |
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 | 48 | 2014 |
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 | 24 | 2015 |
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 | 23 | 2019 |
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 | 22 | 2014 |
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 | 8 | 2016 |
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 | 7 | 2016 |
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 | 2 | 2020 |