| Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man K Tuschl, PT Clayton, SM Gospe Jr, S Gulab, S Ibrahim, P Singhi, ... The American Journal of Human Genetics 90 (3), 457-466, 2012 | 332 | 2012 |
| Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man K Tuschl, PT Clayton, SM Gospe Jr, S Gulab, S Ibrahim, P Singhi, ... The American Journal of Human Genetics 90 (3), 457-466, 2012 | 332 | 2012 |
| Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the … J Kazenwadel, GA Secker, YJ Liu, JA Rosenfeld, RS Wildin, ... Blood, The Journal of the American Society of Hematology 119 (5), 1283-1291, 2012 | 274 | 2012 |
| Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia DL Guernsey, H Jiang, DR Campagna, SC Evans, M Ferguson, ... Nature genetics 41 (6), 651-653, 2009 | 247 | 2009 |
| Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections D Guo, E Regalado, DE Casteel, RL Santos-Cortez, L Gong, JJ Kim, ... The American Journal of Human Genetics 93 (2), 398-404, 2013 | 199 | 2013 |
| In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients N Sylvius, ZT Bilinska, JP Veinot, A Fidzianska, PM Bolongo, S Poon, ... Journal of medical genetics 42 (8), 639-647, 2005 | 105 | 2005 |
| Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females NK Renault, S Dyack, MJ Dobson, T Costa, WL Lam, WL Greer European journal of Human genetics 15 (6), 628-637, 2007 | 92 | 2007 |
| Neurodevelopmental outcome and treatment efficacy of benzoate and dextromethorphan in siblings with attenuated nonketotic hyperglycinemia KJ Bjoraker, MA Swanson, CR Coughlin II, J Christodoulou, ES Tan, ... The Journal of pediatrics 170, 234-239, 2016 | 75 | 2016 |
| Germline Mutations in MAP3K6 Are Associated with Familial Gastric Cancer D Gaston, S Hansford, C Oliveira, M Nightingale, H Pinheiro, ... PLoS genetics 10 (10), e1004669, 2014 | 71 | 2014 |
| Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry C Auray-Blais, CM Blais, U Ramaswami, M Boutin, DP Germain, S Dyack, ... Clinica chimica acta 438, 195-204, 2015 | 69 | 2015 |
| Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy DT Burns, S Donkervoort, JS Müller, E Knierim, D Bharucha-Goebel, ... The American Journal of Human Genetics 102 (5), 858-873, 2018 | 56 | 2018 |
| Evidence for a new contiguous gene syndrome, the chromosome 16p13. 3 deletion syndrome alias severe Rubinstein–Taybi syndrome O Bartsch, S Rasi, A Delicado, S Dyack, LM Neumann, E Seemanová, ... Human genetics 120, 179-186, 2006 | 52 | 2006 |
| National Heart, Lung, and Blood Institute Grand Opportunity Exome Sequencing Project. Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute … DC Guo, E Regalado, DE Casteel, RL Santos-Cortez, L Gong, JJ Kim, ... Am J Hum Genet 93 (02), 398-404, 2013 | 51 | 2013 |
| Experiences of caregivers of children with inherited metabolic diseases: a qualitative study S Siddiq, BJ Wilson, ID Graham, M Lamoureux, SD Khangura, K Tingley, ... Orphanet journal of rare diseases 11 (1), 1-10, 2016 | 49 | 2016 |
| Genotype and phenotype spectrum of NRAS germline variants F Altmüller, C Lissewski, D Bertola, E Flex, Z Stark, S Spranger, ... European Journal of Human Genetics 25 (7), 823-831, 2017 | 43 | 2017 |
| Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH C Tyson, Y Qiao, C Harvard, X Liu, FP Bernier, B McGillivray, SA Farrell, ... Molecular cytogenetics 1, 1-9, 2008 | 40 | 2008 |
| Deletions in 16q24. 2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation GR Handrigan, D Chitayat, AC Lionel, M Pinsk, AK Vaags, CR Marshall, ... Journal of medical genetics 50 (3), 163-173, 2013 | 39 | 2013 |
| SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium EM Hostetler, ES Regalado, DC Guo, N Hanna, P Arnaud, ... Journal of medical genetics 56 (4), 252-260, 2019 | 35 | 2019 |
| Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22. 3q23. 2 S Alliman, J Coppinger, J Marcadier, H Thiese, P Brock, S Shafer, ... Clinical genetics 78 (2), 162-168, 2010 | 32 | 2010 |
| De novo truncating mutations in WASF1 cause intellectual disability with seizures Y Ito, KJ Carss, ST Duarte, T Hartley, B Keren, MA Kurian, I Marey, ... The American Journal of Human Genetics 103 (1), 144-153, 2018 | 29 | 2018 |
