| Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain P Sen, Y Yang, C Navarro, I Silva, P Szafranski, KE Kolodziejska, ... Human mutation 34 (6), 801-811, 2013 | 115 | 2013 |
| Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2 M Renard, B Callewaert, F Malfait, L Campens, S Sharif, M del Campo, ... International journal of cardiology 165 (3), 584-587, 2013 | 76 | 2013 |
| Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders MA Gillentine, T Wang, K Hoekzema, J Rosenfeld, P Liu, H Guo, CN Kim, ... Genome medicine 13, 1-26, 2021 | 72 | 2021 |
| Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients C Staufner, B Peters, M Wagner, S Alameer, I Barić, P Broué, D Bulut, ... Genetics in Medicine 22 (3), 610-621, 2020 | 63 | 2020 |
| Comparison of prediction models for Lynch syndrome among individuals with colorectal cancer F Kastrinos, RP Ojha, C Leenen, C Alvero, RC Mercado, J Balmaña, ... Journal of the National Cancer Institute 108 (2), djv308, 2016 | 60 | 2016 |
| Germline mutations in NF1 and BRCA1 in a family with neurofibromatosis type 1 and early-onset breast cancer B Campos, J Balmaña, J Gardenyes, I Valenzuela, O Abad, P Fàbregas, ... Breast cancer research and treatment 139, 597-602, 2013 | 38 | 2013 |
| Do Not Trust the Pedigree: Reduced and Sex‐Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic … RE Varga, R Schüle, H Fadel, I Valenzuela, F Speziani, M Gonzalez, ... Human mutation 34 (6), 860-863, 2013 | 35 | 2013 |
| Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients J Tenorio, P Alarcón, P Arias, I Dapía, S García-Miñaur, ... European Journal of Human Genetics 28 (4), 469-479, 2020 | 28 | 2020 |
| Prenatal phenotyping: a community effort to enhance the Human Phenotype Ontology F Dhombres, P Morgan, BP Chaudhari, I Filges, TN Sparks, P Lapunzina, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2022 | 25 | 2022 |
| A clinical scoring system for congenital contractural arachnodactyly I Meerschaut, S De Coninck, W Steyaert, A Barnicoat, A Bayat, ... Genetics in Medicine 22 (1), 124-131, 2020 | 23 | 2020 |
| Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease M Gago-Díaz, A Blanco-Verea, G Teixidó-Turà, I Valenzuela, ... Clinica Chimica Acta 437, 88-92, 2014 | 23 | 2014 |
| Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome A Tovy, C Rosas, AS Gaikwad, G Medrano, L Zhang, JM Reyes, ... Haematologica 107 (4), 887, 2022 | 21 | 2022 |
| Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein E De Boer, CW Ockeloen, RA Kampen, JE Hampstead, AJM Dingemans, ... Genetics in Medicine 24 (10), 2051-2064, 2022 | 20 | 2022 |
| Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder S Cuinat, M Nizon, B Isidor, A Stegmann, RH van Jaarsveld, ... Genetics in Medicine 24 (8), 1774-1780, 2022 | 19 | 2022 |
| Rare novel variants in the ZIC3 gene cause X-linked heterotaxy ADC Paulussen, A Steyls, J Vanoevelen, FHJ Van Tienen, IPC Krapels, ... European Journal of Human Genetics 24 (12), 1783-1791, 2016 | 19 | 2016 |
| Natural history of KBG syndrome in a large European cohort L Loberti, LP Bruno, S Granata, G Doddato, S Resciniti, F Fava, M Carullo, ... Human Molecular Genetics 31 (24), 4131-4142, 2022 | 18 | 2022 |
| CERT1 mutations perturb human development by disrupting sphingolipid homeostasis C Gehin, MA Lone, W Lee, L Capolupo, S Ho, AM Adeyemi, EH Gerkes, ... The Journal of clinical investigation 133 (10), 2023 | 17 | 2023 |
| TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci EE Davis, R Balasubramanian, ZA Kupchinsky, DL Keefe Jr, L Plummer, ... Human molecular genetics 29 (14), 2435-2450, 2020 | 17 | 2020 |
| Skeletal abnormalities are common features in Aymé‐Gripp syndrome M Niceta, D Barbuti, N Gupta, C Ruggiero, EF Tizzano, L Graul‐Neumann, ... Clinical Genetics 97 (2), 362-369, 2020 | 17 | 2020 |
| Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review J Tenorio-Castaño, B Morte, J Nevado, V Martinez-Glez, ... Genes 12 (5), 738, 2021 | 16 | 2021 |
