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Cerebral organoids containing an AUTS2 missense variant model microcephaly.
Fair SR, Schwind W, Julian DL, Biel A, Guo G, Rutherford R, Ramadesikan S, Westfall J, Miller KE, Kararoudi MN, Hickey SE, Mosher TM, McBride KL, Neinast R, Fitch J, Lee DA, White P, Wilson RK, Bedrosian TA, Koboldt DC, Hester ME. Fair SR, et al. Among authors: white p. Brain. 2023 Jan 5;146(1):387-404. doi: 10.1093/brain/awac244. Brain. 2023. PMID: 35802027 Free PMC article.
A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.
Koboldt DC, Mihalic Mosher T, Kelly BJ, Sites E, Bartholomew D, Hickey SE, McBride K, Wilson RK, White P. Koboldt DC, et al. Among authors: white p. Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3):a002410. doi: 10.1101/mcs.a002410. Print 2018 Jun. Cold Spring Harb Mol Case Stud. 2018. PMID: 29305346 Free PMC article.
Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma.
Miller KE, Kelly B, Fitch J, Ross N, Avenarius MR, Varga E, Koboldt DC, Boué DR, Magrini V, Coven SL, Finlay JL, Cottrell CE, White P, Gastier-Foster JM, Wilson RK, Leonard J, Mardis ER. Miller KE, et al. Among authors: white p. Cold Spring Harb Mol Case Stud. 2018 Apr 2;4(2):a002618. doi: 10.1101/mcs.a002618. Print 2018 Apr. Cold Spring Harb Mol Case Stud. 2018. PMID: 29434027 Free PMC article.
In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis.
Koboldt DC, Kastury RD, Waldrop MA, Kelly BJ, Mosher TM, McLaughlin H, Corsmeier D, Slaughter JL, Flanigan KM, McBride KL, Mehta L, Wilson RK, White P. Koboldt DC, et al. Among authors: white p. Cold Spring Harb Mol Case Stud. 2018 Oct 1;4(5):a003160. doi: 10.1101/mcs.a003160. Print 2018 Oct. Cold Spring Harb Mol Case Stud. 2018. PMID: 30054298 Free PMC article.
Human Bile-Mediated Regulation of Salmonella Curli Fimbriae.
González JF, Tucker L, Fitch J, Wetzel A, White P, Gunn JS. González JF, et al. Among authors: white p. J Bacteriol. 2019 Aug 22;201(18):e00055-19. doi: 10.1128/JB.00055-19. Print 2019 Sep 15. J Bacteriol. 2019. PMID: 30936374 Free PMC article.
5,118 results