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| Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study S Groeneweg, FS van Geest, A Abacı, A Alcantud, GP Ambegaonkar, ... The Lancet Diabetes & Endocrinology 8 (7), 594-605, 2020 | 58 | 2020 |
| Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum TR Donti, G Cappuccio, L Hubert, J Neira, PS Atwal, MJ Miller, AL Cardon, ... Molecular genetics and metabolism reports 8, 61-66, 2016 | 58 | 2016 |
| De novo heterozygous POLR2A variants cause a neurodevelopmental syndrome with profound infantile-onset hypotonia HA Haijes, MJE Koster, H Rehmann, D Li, H Hakonarson, G Cappuccio, ... The American Journal of Human Genetics 105 (2), 283-301, 2019 | 54 | 2019 |
| Loss of SMPD4 causes a developmental disorder characterized by microcephaly and congenital arthrogryposis P Magini, DJ Smits, L Vandervore, R Schot, M Columbaro, E Kasteleijn, ... The American Journal of Human Genetics 105 (4), 689-705, 2019 | 50 | 2019 |
| De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct … G Cappuccio, C Sayou, PL Tanno, E Tisserant, AL Bruel, SE Kennani, ... Genetics in Medicine 22 (11), 1838-1850, 2020 | 44 | 2020 |
| 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 | 41 | 2021 |
| Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females M Scala, A Torella, M Severino, G Morana, R Castello, A Accogli, ... European Journal of Human Genetics 27 (8), 1254-1259, 2019 | 40 | 2019 |
| DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome LC Schenkel, E Aref-Eshghi, K Rooney, J Kerkhof, MA Levy, H McConkey, ... Clinical epigenetics 13, 1-17, 2021 | 36 | 2021 |
| New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants G Cappuccio, F Vitiello, A Casertano, P Fontana, R Genesio, D Bruzzese, ... Italian journal of pediatrics 42, 1-11, 2016 | 36 | 2016 |
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| A case of 14q11. 2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf–Hirschhorn syndrome G Terrone, G Cappuccio, R Genesio, A Esposito, V Fiorentino, M Riccitelli, ... American Journal of Medical Genetics Part A 164 (1), 190-193, 2014 | 29 | 2014 |
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