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Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428.
Musolf AM, Justice CM, Erdogan-Yildirim Z, Goovaerts S, Cuellar A, Shaffer JR, Marazita ML, Claes P, Weinberg SM, Li J, Senders C, Zwienenberg M, Simeonov E, Kaneva R, Roscioli T, Di Pietro L, Barba M, Lattanzi W, Cunningham ML, Romitti PA, Boyadjiev SA. Musolf AM, et al. Among authors: cunningham ml. Sci Rep. 2024 Apr 12;14(1):8533. doi: 10.1038/s41598-024-58343-w. Sci Rep. 2024. PMID: 38609424 Free PMC article.
Craniosynostosis and risk factors related to thyroid dysfunction.
Carmichael SL, Ma C, Rasmussen SA, Cunningham ML, Browne ML, Dosiou C, Lammer EJ, Shaw GM. Carmichael SL, et al. Among authors: cunningham ml. Am J Med Genet A. 2015 Apr;167A(4):701-7. doi: 10.1002/ajmg.a.36953. Epub 2015 Feb 5. Am J Med Genet A. 2015. PMID: 25655789 Free PMC article.
Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.
Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, Paznekas WA, Ben-Neriah Z, Sheffer R, Cunningham ML, Daentl DL, Jabs EW. Cai J, et al. Among authors: cunningham ml. Hum Genet. 2003 Dec;114(1):68-76. doi: 10.1007/s00439-003-1012-7. Epub 2003 Sep 25. Hum Genet. 2003. PMID: 14513358
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
Lindhurst MJ, Parker VE, Payne F, Sapp JC, Rudge S, Harris J, Witkowski AM, Zhang Q, Groeneveld MP, Scott CE, Daly A, Huson SM, Tosi LL, Cunningham ML, Darling TN, Geer J, Gucev Z, Sutton VR, Tziotzios C, Dixon AK, Helliwell T, O'Rahilly S, Savage DB, Wakelam MJ, Barroso I, Biesecker LG, Semple RK. Lindhurst MJ, et al. Among authors: cunningham ml. Nat Genet. 2012 Jun 24;44(8):928-33. doi: 10.1038/ng.2332. Nat Genet. 2012. PMID: 22729222 Free PMC article.
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, Parker VE, Blumhorst C, Darling T, Tosi LL, Huson SM, Whitehouse RW, Jakkula E, Grant I, Balasubramanian M, Chandler KE, Fraser JL, Gucev Z, Crow YJ, Brennan LM, Clark R, Sellars EA, Pena LD, Krishnamurty V, Shuen A, Braverman N, Cunningham ML, Sutton VR, Tasic V, Graham JM Jr, Geer J Jr, Henderson A, Semple RK, Biesecker LG. Keppler-Noreuil KM, et al. Among authors: cunningham ml. Am J Med Genet A. 2014 Jul;164A(7):1713-33. doi: 10.1002/ajmg.a.36552. Epub 2014 Apr 29. Am J Med Genet A. 2014. PMID: 24782230 Free PMC article.
A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.
Spillmann RC, Tan QK, Reuter C, Schoch K; Undiagnosed Diseases Network; Kohler J, Bonner D, Zastrow D, Alkelai A, Baugh E, Cope H, Marwaha S, Wheeler MT, Bernstein JA, Shashi V; Undiagnosed Diseases Network. Spillmann RC, et al. Genet Med. 2023 Apr;25(4):100353. doi: 10.1016/j.gim.2022.12.001. Epub 2022 Dec 5. Genet Med. 2023. PMID: 36481303 Free PMC article.
316 results