| Hereditary breast cancer: new genetic developments, new therapeutic avenues PM Campeau, WD Foulkes, MD Tischkowitz Human genetics 124, 31-42, 2008 | 498 | 2008 |
| Mesenchymal stromal cells ameliorate experimental autoimmune encephalomyelitis by inhibiting CD4 Th17 T cells in a CC chemokine ligand 2-dependent manner M Rafei, PM Campeau, A Aguilar-Mahecha, M Buchanan, P Williams, ... The Journal of Immunology 182 (10), 5994-6002, 2009 | 460 | 2009 |
| High rate of recurrent de novo mutations in developmental and epileptic encephalopathies FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ... The American Journal of Human Genetics 101 (5), 664-685, 2017 | 414 | 2017 |
| WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta CM Laine, KS Joeng, PM Campeau, R Kiviranta, K Tarkkonen, M Grover, ... New England Journal of Medicine 368 (19), 1809-1816, 2013 | 389 | 2013 |
| The genetic basis of DOORS syndrome: an exome sequencing study P Campeau, D Kasperaviciute, JT Lu, LC Burrage, C Kim, M Hori, ... The Lancet Neurology, n/a-n/a, 2013 | 288 | 2013 |
| miRNA-34c regulates Notch signaling during bone development Y Bae, T Yang, HC Zeng, P Campeau, Y Chen, T Bertin, B Dawson, ... Hum Mol Genet, 2012 | 258 | 2012 |
| Requirement of argininosuccinate lyase for systemic nitric oxide production A Erez, SCS Nagamani, OA Shchelochkov, MH Premkumar, ... Nature medicine 17 (12), 1619-1626, 2011 | 228 | 2011 |
| Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders E Aref-Eshghi, J Kerkhof, VP Pedro, M Barat-Houari, N Ruiz-Pallares, ... The American Journal of Human Genetics 106 (3), 356-370, 2020 | 212 | 2020 |
| Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome F Kortüm, V Caputo, CK Bauer, L Stella, A Ciolfi, M Alawi, G Bocchinfuso, ... Nature genetics 47 (6), 661-667, 2015 | 206 | 2015 |
| Model organisms facilitate rare disease diagnosis and therapeutic research MF Wangler, S Yamamoto, HT Chao, JE Posey, M Westerfield, ... Genetics 207 (1), 9-27, 2017 | 184 | 2017 |
| A recurrent PDGFRB mutation causes familial infantile myofibromatosis YH Cheung, T Gayden, PM Campeau, CA LeDuc, D Russo, VH Nguyen, ... The American Journal of Human Genetics 92 (6), 996-1000, 2013 | 160 | 2013 |
| Genomic DNA methylation signatures enable concurrent diagnosis and clinical genetic variant classification in neurodevelopmental syndromes E Aref-Eshghi, DI Rodenhiser, LC Schenkel, H Lin, C Skinner, ... The American Journal of Human Genetics 102 (1), 156-174, 2018 | 154 | 2018 |
| Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders LC Burrage, SCS Nagamani, PM Campeau, BH Lee Human molecular genetics 23 (R1), R1-R8, 2014 | 149 | 2014 |
| Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development AL Lennox, ML Hoye, R Jiang, BL Johnson-Kerner, LA Suit, ... Neuron 106 (3), 404-420. e8, 2020 | 148 | 2020 |
| Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase PM Campeau, GM Lenk, JT Lu, Y Bae, L Burrage, P Turnpenny, ... The American Journal of Human Genetics 92 (5), 781-791, 2013 | 142 | 2013 |
| De novo mutations in CHD4, an ATP-dependent chromatin remodeler gene, cause an intellectual disability syndrome with distinctive dysmorphisms K Weiss, PA Terhal, L Cohen, M Bruccoleri, M Irving, AF Martinez, ... The American Journal of Human Genetics 99 (4), 934-941, 2016 | 141 | 2016 |
| Mutations in KAT6B, Encoding a Histone Acetyltransferase, Cause Genitopatellar Syndrome PM Campeau, JC Kim, JT Lu, JA Schwartzentruber, OA Abdul-Rahman, ... The American Journal of Human Genetics, 2012 | 141 | 2012 |
| Transfection of large plasmids in primary human myoblasts P Campeau, P Chapdelaine, S Seigneurin-Venin, B Massie, JP Tremblay Gene Therapy 8 (18), 1387-1394, 2001 | 132 | 2001 |
| Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies M Niceta, E Stellacci, KW Gripp, G Zampino, M Kousi, M Anselmi, ... The American Journal of Human Genetics 96 (5), 816-825, 2015 | 128 | 2015 |
| Recessive mutations in VPS13D cause childhood onset movement disorders J Gauthier, IA Meijer, D Lessel, NE Mencacci, D Krainc, M Hempel, ... Annals of neurology 83 (6), 1089-1095, 2018 | 125 | 2018 |
Brendan LeeBaylor College of Medicine在 bcm.edu 的电子邮件经过验证
