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917 results

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A novel, de novo intronic variant in POGZ causes White-Sutton syndrome.
Merriweather A, Murdock DR, Rosenfeld JA, Dai H, Ketkar S, Emrick L, Nicholas S, Lewis RA; Undiagnosed Diseases Network; Bacino CA, Scott DA, Lee B, Sutton VR, Potocki L, Burrage LC. Merriweather A, et al. Among authors: scott da. Am J Med Genet A. 2022 Jul;188(7):2198-2203. doi: 10.1002/ajmg.a.62747. Epub 2022 Apr 9. Am J Med Genet A. 2022. PMID: 35396900 Free PMC article.
Congenital diaphragmatic hernia in WAGR syndrome.
Scott DA, Cooper ML, Stankiewicz P, Patel A, Potocki L, Cheung SW. Scott DA, et al. Am J Med Genet A. 2005 May 1;134(4):430-3. doi: 10.1002/ajmg.a.30654. Am J Med Genet A. 2005. PMID: 15779010 Review.
Congenital diaphragmatic hernia associated with duplication of 11q23-qter.
Klaassens M, Scott DA, van Dooren M, Hochstenbach R, Eussen HJ, Cai WW, Galjaard RJ, Wouters C, Poot M, Laudy J, Lee B, Tibboel D, de Klein A. Klaassens M, et al. Among authors: scott da. Am J Med Genet A. 2006 Jul 15;140(14):1580-6. doi: 10.1002/ajmg.a.31321. Am J Med Genet A. 2006. PMID: 16770801 Free PMC article.
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.
Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B. Schlaubitz S, et al. Among authors: scott da. Am J Med Genet A. 2007 May 15;143A(10):1071-81. doi: 10.1002/ajmg.a.31685. Am J Med Genet A. 2007. PMID: 17431898
Genetic factors in congenital diaphragmatic hernia.
Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA. Holder AM, et al. Among authors: scott da. Am J Hum Genet. 2007 May;80(5):825-45. doi: 10.1086/513442. Epub 2007 Apr 4. Am J Hum Genet. 2007. PMID: 17436238 Free PMC article. Review.
Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Cheung SW, et al. Among authors: scott da. Am J Med Genet A. 2007 Aug 1;143A(15):1679-86. doi: 10.1002/ajmg.a.31740. Am J Med Genet A. 2007. PMID: 17607705
Prenatal detection and outcome of congenital diaphragmatic hernia (CDH) associated with deletion of chromosome 15q26: two patients and review of the literature.
Klaassens M, Galjaard RJ, Scott DA, Brüggenwirth HT, van Opstal D, Fox MV, Higgins RR, Cohen-Overbeek TE, Schoonderwaldt EM, Lee B, Tibboel D, de Klein A. Klaassens M, et al. Among authors: scott da. Am J Med Genet A. 2007 Sep 15;143A(18):2204-12. doi: 10.1002/ajmg.a.31892. Am J Med Genet A. 2007. PMID: 17702015 Review.
917 results