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Fernando Santos-Simarro
Fernando Santos-Simarro
MD, INGEMM, Hospital Universitario La Paz, Madrid, Spain
Verified email at salud.madrid.org
Title
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Cited by
Year
Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions
DG Lupiáñez, K Kraft, V Heinrich, P Krawitz, F Brancati, E Klopocki, ...
Cell 161 (5), 1012-1025, 2015
20522015
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins
P Szafranski, T Gambin, AV Dharmadhikari, KC Akdemir, SN Jhangiani, ...
Human genetics 135, 569-586, 2016
972016
Spectrum of mutations and genotype–phenotype analysis in Noonan syndrome patients with RIT1 mutations
M Yaoita, T Niihori, S Mizuno, N Okamoto, S Hayashi, A Watanabe, ...
Human genetics 135, 209-222, 2016
962016
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ...
Human Genetics and Genomics Advances 3 (1), 2022
952022
CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype
L Rodriguez-Laguna, K Ibañez, G Gordo, S Garcia-Minaur, ...
Genetics in Medicine 20 (8), 882-889, 2018
692018
Further delineation of Malan syndrome
M Priolo, D Schanze, K Tatton‐Brown, PA Mulder, J Tenorio, K Kooblall, ...
Human mutation 39 (9), 1226-1237, 2018
592018
Noncoding copy-number variations are associated with congenital limb malformation
R Flöttmann, BK Kragesteen, S Geuer, M Socha, L Allou, ...
Genetics in Medicine 20 (6), 599-607, 2018
542018
mTOR mutations in Smith‐Kingsmore syndrome: Four additional patients and a review
G Gordo, J Tenorio, P Arias, F Santos‐Simarro, S García‐Miñaur, ...
Clinical genetics 93 (4), 762-775, 2018
522018
Gain-of-function mutations in KCNN3 encoding the small-conductance Ca2+-activated K+ channel SK3 cause Zimmermann-Laband syndrome
CK Bauer, PE Schneeberger, F Kortüm, J Altmüller, F Santos-Simarro, ...
The American Journal of Human Genetics 104 (6), 1139-1157, 2019
492019
Characterization of a 8q21. 11 microdeletion syndrome associated with intellectual disability and a recognizable phenotype
M Palomares, A Delicado, E Mansilla, ML de Torres, E Vallespín, ...
The American Journal of Human Genetics 89 (2), 295-301, 2011
492011
Clinical and molecular analyses of Beckwith–Wiedemann syndrome: comparison between spontaneous conception and assisted reproduction techniques
J Tenorio, V Romanelli, A Martin‐Trujillo, GM Fernández, M Segovia, ...
American journal of medical genetics Part A 170 (10), 2740-2749, 2016
462016
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
M López, A García-Oguiza, J Armstrong, I García-Cobaleda, ...
BMC medical genetics 19, 1-8, 2018
422018
Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome
A Kievit, F Tessadori, H Douben, I Jordens, M Maurice, J Hoogeboom, ...
European journal of human genetics 26 (2), 210-219, 2018
422018
Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two
MB García-Morato, S García-Miñaúr, JM Garicano, FS Simarro, ...
Clinical immunology 179, 77-80, 2017
422017
Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndrome
ME Teresa-Rodrigo, J Eckhold, B Puisac, A Dalski, MC Gil-Rodríguez, ...
International Journal of Molecular Sciences 15 (6), 10350-10364, 2014
402014
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
D Rots, E Chater-Diehl, AJM Dingemans, SJ Goodman, MT Siu, ...
The American Journal of Human Genetics 108 (6), 1053-1068, 2021
392021
Customized high resolution CGH‐array for clinical diagnosis reveals additional genomic imbalances in previous well‐defined pathological samples
E Vallespín, M Palomares Bralo, MÁ Mori, R Martín, S García‐Miñaúr, ...
American Journal of Medical Genetics Part A 161 (8), 1950-1960, 2013
382013
MAGEL2‐related disorders: A study and case series
J Patak, J Gilfert, M Byler, V Neerukonda, I Thiffault, L Cross, ...
Clinical genetics 96 (6), 493-505, 2019
352019
PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13. 3 microdeletion/microduplication syndrome
J Nevado, JA Rosenfeld, R Mena, M Palomares-Bralo, E Vallespín, ...
European Journal of Human Genetics 23 (12), 1615-1626, 2015
352015
A New Overgrowth Syndrome is due to Mutations in RNF125
J Tenorio, A Mansilla, M Valencia, V Martínez‐Glez, V Romanelli, P Arias, ...
Human mutation 35 (12), 1436-1441, 2014
352014
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