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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 | 103 | 2022 |
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 | 97 | 2016 |
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 | 97 | 2016 |
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 | 69 | 2018 |
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 | 63 | 2018 |
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 | 54 | 2018 |
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 | 54 | 2018 |
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 | 50 | 2019 |
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 | 49 | 2011 |
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 | 46 | 2016 |
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 | 43 | 2021 |
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 | 43 | 2018 |
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 | 43 | 2018 |
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 | 42 | 2017 |
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 | 40 | 2014 |
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 | 39 | 2013 |
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 | 38 | 2019 |
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 | 36 | 2015 |
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 | 36 | 2014 |