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Page 1
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG. Johnston JJ, et al. Among authors: flannery db. Am J Hum Genet. 2005 Apr;76(4):609-22. doi: 10.1086/429346. Epub 2005 Feb 28. Am J Hum Genet. 2005. PMID: 15739154 Free PMC article.
Considerations for policymakers for improving health care through telegenetics: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Williams HE, Aiyar L, Dinulos MB, Flannery D, McClure ML, Lloyd-Puryear MA, Sanghavi K, Trotter TL, Viskochil D; ACMG Advocacy and Government Affairs Committee. Electronic address: [email protected]. Williams HE, et al. Genet Med. 2022 Nov;24(11):2211-2219. doi: 10.1016/j.gim.2022.07.017. Epub 2022 Aug 30. Genet Med. 2022. PMID: 36040445 Free article. No abstract available.
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: flannery db. 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.
Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
David KL, Best RG, Brenman LM, Bush L, Deignan JL, Flannery D, Hoffman JD, Holm I, Miller DT, O'Leary J, Pyeritz RE; ACMG Social Ethical Legal Issues Committee. David KL, et al. Genet Med. 2019 Apr;21(4):769-771. doi: 10.1038/s41436-018-0391-z. Epub 2018 Dec 22. Genet Med. 2019. PMID: 30578420 Free article. No abstract available.
Current conditions in medical genetics practice.
Maiese DR, Keehn A, Lyon M, Flannery D, Watson M; Working Groups of the National Coordinating Center for Seven Regional Genetics Service Collaboratives. Maiese DR, et al. Genet Med. 2019 Aug;21(8):1874-1877. doi: 10.1038/s41436-018-0417-6. Epub 2019 Jan 28. Genet Med. 2019. PMID: 30686822 Free PMC article.
Complete monosomy 21 confirmed by FISH and array-CGH.
Kulharya AS, Tonk VS, Lovell C, Flannery DB. Kulharya AS, et al. Among authors: flannery db. Am J Med Genet A. 2012 Apr;158A(4):935-7. doi: 10.1002/ajmg.a.35251. Epub 2012 Mar 9. Am J Med Genet A. 2012. PMID: 22407893 No abstract available.
52 results