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Philippe M Campeau
Philippe M Campeau
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Hereditary breast cancer: new genetic developments, new therapeutic avenues
PM Campeau, WD Foulkes, MD Tischkowitz
Human genetics 124, 31-42, 2008
4992008
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
4572009
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
3992017
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
3832013
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
2782013
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
2582012
Requirement of argininosuccinate lyase for systemic nitric oxide production
A Erez, SCS Nagamani, OA Shchelochkov, MH Premkumar, ...
Nature medicine 17 (12), 1619-1626, 2011
2222011
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
2052015
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
2042020
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
1822017
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
1572013
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
1482014
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
1472018
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
1422020
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
1392016
Yunis-Varón 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
1382013
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
1372012
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
1292001
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
1232018
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
1232015
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