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Expanding the genotype-phenotype correlation in subtelomeric 19p13.3 microdeletions using high resolution clinical chromosomal microarray analysis.
Peddibhotla S, Khalifa M, Probst FJ, Stein J, Harris LL, Kearney DL, Vance GH, Bull MJ, Grange DK, Scharer GH, Kang SH, Stankiewicz P, Bacino CA, Cheung SW, Patel A. Peddibhotla S, et al. Among authors: kearney dl. Am J Med Genet A. 2013 Dec;161A(12):2953-63. doi: 10.1002/ajmg.a.35886. Epub 2013 Oct 2. Am J Med Genet A. 2013. PMID: 24123848
Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.
Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P. Sen P, et al. Hum Mutat. 2013 Jun;34(6):801-11. doi: 10.1002/humu.22313. Epub 2013 Apr 12. Hum Mutat. 2013. PMID: 23505205 Free PMC article.
Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV.
Szafranski P, Herrera C, Proe LA, Coffman B, Kearney DL, Popek E, Stankiewicz P. Szafranski P, et al. Among authors: kearney dl. Clin Epigenetics. 2016 Nov 3;8:112. doi: 10.1186/s13148-016-0278-2. eCollection 2016. Clin Epigenetics. 2016. PMID: 27822317 Free PMC article.
LMOD2-related dilated cardiomyopathy presenting in late infancy.
Lay E, Azamian MS, Denfield SW, Dreyer W, Spinner JA, Kearney D, Zhang L, Worley KC, Bi W, Lalani SR. Lay E, et al. Am J Med Genet A. 2022 Jun;188(6):1858-1862. doi: 10.1002/ajmg.a.62699. Epub 2022 Feb 21. Am J Med Genet A. 2022. PMID: 35188328 Free PMC article.
Developmental differences in canine cardiac surgical scars.
Denfield SW, Kearney DL, Michael L, Gittenberger-de Groot A, Garson A Jr. Denfield SW, et al. Among authors: kearney dl. Am Heart J. 1993 Aug;126(2):382-9. doi: 10.1016/0002-8703(93)91055-j. Am Heart J. 1993. PMID: 8338009
84 results