Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders T Wang, K Hoekzema, D Vecchio, H Wu, A Sulovari, BP Coe, ... Nature communications 11 (1), 4932, 2020 | 176 | 2020 |
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 | 149 | 2022 |
Paralog studies augment gene discovery: DDX and DHX genes I Paine, JE Posey, CM Grochowski, SN Jhangiani, S Rosenheck, ... The American Journal of Human Genetics 105 (2), 302-316, 2019 | 83 | 2019 |
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 | 81 | 2020 |
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 | 60 | 2019 |
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 | 60 | 2016 |
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders MA Levy, R Relator, H McConkey, E Pranckeviciene, J Kerkhof, ... Human mutation 43 (11), 1609-1628, 2022 | 57 | 2022 |
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 | 57 | 2019 |
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 | 54 | 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 | 53 | 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 | 49 | 2020 |
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 | 42 | 2021 |
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes M Scala, M Nishikawa, H Ito, H Tabata, T Khan, A Accogli, L Davids, ... Brain 145 (9), 3308-3327, 2022 | 41 | 2022 |
Rare and de novo coding variants in chromodomain genes in Chiari I malformation B Sadler, J Wilborn, L Antunes, T Kuensting, AT Hale, SR Gannon, ... The American Journal of Human Genetics 108 (1), 100-114, 2021 | 41 | 2021 |
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet G Cappuccio, M Pinelli, M Alagia, T Donti, DL Day-Salvatore, P Veggiotti, ... PLoS One 12 (9), e0184022, 2017 | 35 | 2017 |
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 | 35 | 2016 |
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia G Terrone, N Voisin, A Abdullah Alfaiz, G Cappuccio, G Vitiello, N Guex, ... European Journal of Human Genetics 24 (9), 1359-1362, 2016 | 34 | 2016 |
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA … A Mussa, C Leoni, M Iacoviello, D Carli, C Ranieri, A Pantaleo, ... Journal of Medical Genetics 60 (2), 163-173, 2023 | 33 | 2023 |
Clinical description of a patient carrying the smallest reported deletion involving 10p14 region D Melis, R Genesio, P Boemio, E Del Giudice, G Cappuccio, A Mormile, ... American Journal of Medical Genetics Part A 158 (4), 832-835, 2012 | 32 | 2012 |
Expanding the phenotype of DST‐related disorder: A case report suggesting a genotype/phenotype correlation G Cappuccio, M Pinelli, A Torella, M Alagia, R Auricchio, A Staiano, ... American Journal of Medical Genetics Part A 173 (10), 2743-2746, 2017 | 31 | 2017 |