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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Yan K, Rousseau J, Littlejohn RO, Kiss C, Lehman A, Rosenfeld JA, Stumpel CTR, Stegmann APA, Robak L, Scaglia F, Nguyen TTM, Fu H, Ajeawung NF, Camurri MV, Li L, Gardham A, Panis B, Almannai M, Sacoto MJG, Baskin B, Ruivenkamp C, Xia F, Bi W; DDD Study; CAUSES Study; Cho MT, Potjer TP, Santen GWE, Parker MJ, Canham N, McKinnon M, Potocki L, MacKenzie JJ, Roeder ER, Campeau PM, Yang XJ. Yan K, et al. Among authors: campeau pm. Am J Hum Genet. 2017 Jan 5;100(1):91-104. doi: 10.1016/j.ajhg.2016.11.011. Epub 2016 Dec 8. Am J Hum Genet. 2017. PMID: 27939640 Free PMC article.
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.
Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman OA, Schlaubitz S, Murdock DM, Jiang MM, Lammer EJ, Enns GM, Rhead WJ, Rowland J, Robertson SP, Cormier-Daire V, Bainbridge MN, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee BH. Campeau PM, et al. Am J Hum Genet. 2012 Feb 10;90(2):282-9. doi: 10.1016/j.ajhg.2011.11.023. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265014 Free PMC article.
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria.
Nagamani SC, Campeau PM, Shchelochkov OA, Premkumar MH, Guse K, Brunetti-Pierri N, Chen Y, Sun Q, Tang Y, Palmer D, Reddy AK, Li L, Slesnick TC, Feig DI, Caudle S, Harrison D, Salviati L, Marini JC, Bryan NS, Erez A, Lee B. Nagamani SC, et al. Among authors: campeau pm. Am J Hum Genet. 2012 May 4;90(5):836-46. doi: 10.1016/j.ajhg.2012.03.018. Epub 2012 Apr 26. Am J Hum Genet. 2012. PMID: 22541557 Free PMC article.
Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH. Campeau PM, et al. Am J Hum Genet. 2013 May 2;92(5):781-91. doi: 10.1016/j.ajhg.2013.03.020. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623387 Free PMC article.
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
Lalani SR, Ware SM, Wang X, Zapata G, Tian Q, Franco LM, Jiang Z, Bucasas K, Scott DA, Campeau PM, Hanchard N, Umaña L, Cast A, Patel A, Cheung SW, McBride KL, Bray M, Craig Chinault A, Boggs BA, Huang M, Baker MR, Hamilton S, Towbin J, Jefferies JL, Fernbach SD, Potocki L, Belmont JW. Lalani SR, et al. Among authors: campeau pm. Hum Mol Genet. 2013 Nov 1;22(21):4339-48. doi: 10.1093/hmg/ddt283. Epub 2013 Jun 16. Hum Mol Genet. 2013. PMID: 23773997 Free PMC article.
Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies.
Niceta M, Stellacci E, Gripp KW, Zampino G, Kousi M, Anselmi M, Traversa A, Ciolfi A, Stabley D, Bruselles A, Caputo V, Cecchetti S, Prudente S, Fiorenza MT, Boitani C, Philip N, Niyazov D, Leoni C, Nakane T, Keppler-Noreuil K, Braddock SR, Gillessen-Kaesbach G, Palleschi A, Campeau PM, Lee BH, Pouponnot C, Stella L, Bocchinfuso G, Katsanis N, Sol-Church K, Tartaglia M. Niceta M, et al. Among authors: campeau pm. Am J Hum Genet. 2015 May 7;96(5):816-25. doi: 10.1016/j.ajhg.2015.03.001. Epub 2015 Apr 9. Am J Hum Genet. 2015. PMID: 25865493 Free PMC article.
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K. Kortüm F, et al. Among authors: campeau pm. Nat Genet. 2015 Jun;47(6):661-7. doi: 10.1038/ng.3282. Epub 2015 Apr 27. Nat Genet. 2015. PMID: 25915598
Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.
Kasher PR, Schertz KE, Thomas M, Jackson A, Annunziata S, Ballesta-Martinez MJ, Campeau PM, Clayton PE, Eaton JL, Granata T, Guillén-Navarro E, Hernando C, Laverriere CE, Liedén A, Villa-Marcos O, McEntagart M, Nordgren A, Pantaleoni C, Pebrel-Richard C, Sarret C, Sciacca FL, Wright R, Kerr B, Glasgow E, Banka S. Kasher PR, et al. Among authors: campeau pm. Am J Hum Genet. 2016 Feb 4;98(2):363-72. doi: 10.1016/j.ajhg.2015.12.014. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833329 Free PMC article.
215 results