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Page 1
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG. Stankiewicz P, et al. Among authors: sparks s. Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2. Hum Mutat. 2012. PMID: 21948486 Free PMC article.
Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.
Theisen A, Rosenfeld JA, Shane K, McBride KL, Atkin JF, Gaba C, Hoo J, Kurczynski TW, Schnur RE, Coffey LB, Zackai EH, Schimmenti L, Friedman N, Zabukovec M, Ball S, Pagon R, Lucas A, Brasington CK, Spence JE, Sparks S, Banks V, Smith W, Friedberg T, Wyatt PR, Aust M, Tervo R, Crowley A, Skidmore D, Lamb AN, Ravnan B, Sahoo T, Schultz R, Torchia BS, Sgro M, Chitayat D, Shaffer LG. Theisen A, et al. Among authors: sparks s. Mol Syndromol. 2010;1(5):262-271. doi: 10.1159/000328405. Epub 2011 May 18. Mol Syndromol. 2010. PMID: 22140379 Free PMC article.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics; Matthijs G, Freeze HH. Ng BG, et al. Among authors: sparks se. Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26931382 Free PMC article.
Diagnostic approach to the congenital muscular dystrophies.
Bönnemann CG, Wang CH, Quijano-Roy S, Deconinck N, Bertini E, Ferreiro A, Muntoni F, Sewry C, Béroud C, Mathews KD, Moore SA, Bellini J, Rutkowski A, North KN; Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Bönnemann CG, et al. Neuromuscul Disord. 2014 Apr;24(4):289-311. doi: 10.1016/j.nmd.2013.12.011. Epub 2014 Jan 9. Neuromuscul Disord. 2014. PMID: 24581957 Free PMC article.
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, Dubrovsky A, Franca MC Jr, Vargas S, Hegde M, Claeys KG, Straub V, Daba N, Faria R, Periquet M, Sparks S, Thibault N, Araujo R. Bevilacqua JA, et al. Among authors: sparks s. Orphanet J Rare Dis. 2020 Jan 13;15(1):11. doi: 10.1186/s13023-019-1291-2. Orphanet J Rare Dis. 2020. PMID: 31931849 Free PMC article.
Hermansky-Pudlak syndrome in two African-American brothers.
Merideth MA, Vincent LM, Sparks SE, Hess RA, Manoli I, O'Brien KJ, Tsilou E, White JG, Huizing M, Gahl WA. Merideth MA, et al. Am J Med Genet A. 2009 May;149A(5):987-92. doi: 10.1002/ajmg.a.32757. Am J Med Genet A. 2009. PMID: 19334085 Free PMC article.
362 results