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PTEN somatic mutations contribute to spectrum of cerebral overgrowth.
Koboldt DC, Miller KE, Miller AR, Bush JM, McGrath S, Leraas K, Crist E, Fair S, Schwind W, Wijeratne S, Fitch J, Leonard J, Shaikhouni A, Hester ME, Magrini V, Ho ML, Pierson CR, Wilson RK, Ostendorf AP, Mardis ER, Bedrosian TA. Koboldt DC, et al. Among authors: crist e. Brain. 2021 Nov 29;144(10):2971-2978. doi: 10.1093/brain/awab173. Brain. 2021. PMID: 34048549 Free PMC article.
Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue.
Miller KE, Koboldt DC, Schieffer KM, Bedrosian TA, Crist E, Sheline A, Leraas K, Magrini V, Zhong H, Brennan P, Bush J, Fitch J, Bir N, Miller AR, Cottrell CE, Leonard J, Pindrik JA, Rusin JA, Shah SH, White P, Wilson RK, Mardis ER, Pierson CR, Ostendorf AP. Miller KE, et al. Among authors: crist e. Neurol Genet. 2020 Jun 17;6(4):e460. doi: 10.1212/NXG.0000000000000460. eCollection 2020 Aug. Neurol Genet. 2020. PMID: 32637635 Free PMC article.
YAP1-FAM118B Fusion Defines a Rare Subset of Childhood and Young Adulthood Meningiomas.
Schieffer KM, Agarwal V, LaHaye S, Miller KE, Koboldt DC, Lichtenberg T, Leraas K, Brennan P, Kelly BJ, Crist E, Rusin J, Finlay JL, Osorio DS, Sribnick EA, Leonard JR, Feldman A, Orr BA, Serrano J, Vasudevaraja V, Snuderl M, White P, Magrini V, Wilson RK, Mardis ER, Boué DR, Cottrell CE. Schieffer KM, et al. Among authors: crist e. Am J Surg Pathol. 2021 Mar 1;45(3):329-340. doi: 10.1097/PAS.0000000000001597. Am J Surg Pathol. 2021. PMID: 33074854
Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.
Koboldt DC, Hickey SE, Chaudhari BP, Mihalic Mosher T, Bedrosian T, Crist E, Kaler SG, McBride K, White P, Wilson RK. Koboldt DC, et al. Among authors: crist e. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005306. doi: 10.1101/mcs.a005306. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32532881 Free PMC article.
Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree.
Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK. Hickey SE, et al. Among authors: crist e. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a004176. doi: 10.1101/mcs.a004176. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31836586 Free PMC article.
Biallelic SEPSECS variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
Ramadesikan S, Hickey S, De Los Reyes E, Patel AD, Franklin SJ, Brennan P, Crist E, Lee K, White P, McBride KL, Koboldt DC, Wilson RK. Ramadesikan S, et al. Among authors: crist e. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006165. doi: 10.1101/mcs.a006165. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35091508 Free PMC article.
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.
Yang JH, Friederich MW, Ellsworth KA, Frederick A, Foreman E, Malicki D, Dimmock D, Lenberg J, Prasad C, Yu AC, Anthony Rupar C, Hegele RA, Manickam K, Koboldt DC, Crist E, Choi SS, Farhan SMK, Harvey H, Sattar S, Karp N, Wong T, Haas R, Van Hove JLK, Wigby K. Yang JH, et al. Among authors: crist e. Hum Mutat. 2022 Mar;43(3):305-315. doi: 10.1002/humu.24330. Epub 2022 Jan 19. Hum Mutat. 2022. PMID: 35026043 Free PMC article.
23 results