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Journal Abstract Search

204 related items for PubMed ID: 37676273

  • 1. Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.
    Curtis SW, Carlson JC, Beaty TH, Murray JC, Weinberg SM, Marazita ML, Cotney JL, Cutler DJ, Epstein MP, Leslie EJ.
    Hum Genet; 2023 Oct; 142(10):1531-1541. PubMed ID: 37676273
    [Abstract] [Full Text] [Related]

  • 2. Rare genetic variants in SEC24D modify orofacial cleft phenotypes.
    Curtis SW, Carlson JC, Beaty TH, Murray JC, Weinberg SM, Marazita ML, Cotney JL, Cutler DJ, Epstein MP, Leslie EJ.
    medRxiv; 2023 Mar 27. PubMed ID: 37034635
    [Abstract] [Full Text] [Related]

  • 3. Identifying Genetic Sources of Phenotypic Heterogeneity in Orofacial Clefts by Targeted Sequencing.
    Carlson JC, Taub MA, Feingold E, Beaty TH, Murray JC, Marazita ML, Leslie EJ.
    Birth Defects Res; 2017 Jul 17; 109(13):1030-1038. PubMed ID: 28762674
    [Abstract] [Full Text] [Related]

  • 4. Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21.
    Mukhopadhyay N, Bishop M, Mortillo M, Chopra P, Hetmanski JB, Taub MA, Moreno LM, Valencia-Ramirez LC, Restrepo C, Wehby GL, Hecht JT, Deleyiannis F, Butali A, Weinberg SM, Beaty TH, Murray JC, Leslie EJ, Feingold E, Marazita ML.
    Hum Genet; 2020 Feb 17; 139(2):215-226. PubMed ID: 31848685
    [Abstract] [Full Text] [Related]

  • 5. Identification of 16q21 as a modifier of nonsyndromic orofacial cleft phenotypes.
    Carlson JC, Standley J, Petrin A, Shaffer JR, Butali A, Buxó CJ, Castilla E, Christensen K, Deleyiannis FW, Hecht JT, Field LL, Garidkhuu A, Moreno Uribe LM, Nagato N, Orioli IM, Padilla C, Poletta F, Suzuki S, Vieira AR, Wehby GL, Weinberg SM, Beaty TH, Feingold E, Murray JC, Marazita ML, Leslie EJ.
    Genet Epidemiol; 2017 Dec 17; 41(8):887-897. PubMed ID: 29124805
    [Abstract] [Full Text] [Related]

  • 6. Association of low-frequency genetic variants in regulatory regions with nonsyndromic orofacial clefts.
    Shaffer JR, LeClair J, Carlson JC, Feingold E, Buxó CJ, Christensen K, Deleyiannis FWB, Field LL, Hecht JT, Moreno L, Orioli IM, Padilla C, Vieira AR, Wehby GL, Murray JC, Weinberg SM, Marazita ML, Leslie EJ.
    Am J Med Genet A; 2019 Mar 17; 179(3):467-474. PubMed ID: 30582786
    [Abstract] [Full Text] [Related]

  • 7. Genome-wide association study of multiethnic nonsyndromic orofacial cleft families identifies novel loci specific to family and phenotypic subtypes.
    Mukhopadhyay N, Feingold E, Moreno-Uribe L, Wehby G, Valencia-Ramirez LC, Restrepo Muñeton CP, Padilla C, Deleyiannis F, Christensen K, Poletta FA, Orioli IM, Hecht JT, Buxó CJ, Butali A, Adeyemo WL, Vieira AR, Shaffer JR, Murray JC, Weinberg SM, Leslie EJ, Marazita ML.
    Genet Epidemiol; 2022 Apr 17; 46(3-4):182-198. PubMed ID: 35191549
    [Abstract] [Full Text] [Related]

  • 8. Distinct DNA methylation profiles in subtypes of orofacial cleft.
    Sharp GC, Ho K, Davies A, Stergiakouli E, Humphries K, McArdle W, Sandy J, Davey Smith G, Lewis SJ, Relton CL.
    Clin Epigenetics; 2017 Apr 17; 9():63. PubMed ID: 28603561
    [Abstract] [Full Text] [Related]

  • 9. FAT4 identified as a potential modifier of orofacial cleft laterality.
    Curtis SW, Chang D, Sun MR, Epstein MP, Murray JC, Feingold E, Beaty TH, Weinberg SM, Marazita ML, Lipinski RJ, Carlson JC, Leslie EJ.
    Genet Epidemiol; 2021 Oct 17; 45(7):721-735. PubMed ID: 34130359
    [Abstract] [Full Text] [Related]

  • 10. Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting.
    Diaz Perez KK, Curtis SW, Sanchis-Juan A, Zhao X, Head T, Ho S, Carter B, McHenry T, Bishop MR, Valencia-Ramirez LC, Restrepo C, Hecht JT, Uribe LM, Wehby G, Weinberg SM, Beaty TH, Murray JC, Feingold E, Marazita ML, Cutler DJ, Epstein MP, Brand H, Leslie EJ.
    Genet Med; 2023 Oct 17; 25(10):100918. PubMed ID: 37330696
    [Abstract] [Full Text] [Related]

  • 11. The heterogeneous genetic architectures of orofacial clefts.
    Robinson K, Curtis SW, Leslie EJ.
    Trends Genet; 2024 May 17; 40(5):410-421. PubMed ID: 38480105
    [Abstract] [Full Text] [Related]

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  • 14. DeepFace: Deep-learning-based framework to contextualize orofacial-cleft-related variants during human embryonic craniofacial development.
    Dai Y, Itai T, Pei G, Yan F, Chu Y, Jiang X, Weinberg SM, Mukhopadhyay N, Marazita ML, Simon LM, Jia P, Zhao Z.
    HGG Adv; 2024 Jul 18; 5(3):100312. PubMed ID: 38796699
    [Abstract] [Full Text] [Related]

  • 15. Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.
    Lansdon LA, Dickinson A, Arlis S, Liu H, Hlas A, Hahn A, Bonde G, Long A, Standley J, Tyryshkina A, Wehby G, Lee NR, Daack-Hirsch S, Mohlke K, Girirajan S, Darbro BW, Cornell RA, Houston DW, Murray JC, Manak JR.
    Am J Hum Genet; 2023 Jan 05; 110(1):71-91. PubMed ID: 36493769
    [Abstract] [Full Text] [Related]

  • 16. The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip.
    Curtis SW, Chang D, Lee MK, Shaffer JR, Indencleef K, Epstein MP, Cutler DJ, Murray JC, Feingold E, Beaty TH, Claes P, Weinberg SM, Marazita ML, Carlson JC, Leslie EJ.
    HGG Adv; 2021 Apr 08; 2(2):. PubMed ID: 33817668
    [Abstract] [Full Text] [Related]

  • 17. Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing.
    Dąbrowska J, Biedziak B, Szponar-Żurowska A, Budner M, Jagodziński PP, Płoski R, Mostowska A.
    Mol Genet Genomics; 2022 Sep 08; 297(5):1315-1327. PubMed ID: 35778651
    [Abstract] [Full Text] [Related]

  • 18. Genetic factors define CPO and CLO subtypes of nonsyndromicorofacial cleft.
    Huang L, Jia Z, Shi Y, Du Q, Shi J, Wang Z, Mou Y, Wang Q, Zhang B, Wang Q, Ma S, Lin H, Duan S, Yin B, Lin Y, Wang Y, Jiang D, Hao F, Zhang L, Wang H, Jiang S, Xu H, Yang C, Li C, Li J, Shi B, Yang Z.
    PLoS Genet; 2019 Oct 08; 15(10):e1008357. PubMed ID: 31609978
    [Abstract] [Full Text] [Related]

  • 19. A comparison of DNA methylation in newborn blood samples from infants with and without orofacial clefts.
    Xu Z, Lie RT, Wilcox AJ, Saugstad OD, Taylor JA.
    Clin Epigenetics; 2019 Mar 04; 11(1):40. PubMed ID: 30832715
    [Abstract] [Full Text] [Related]

  • 20. Orofacial clefts embryology, classification, epidemiology, and genetics.
    Nasreddine G, El Hajj J, Ghassibe-Sabbagh M.
    Mutat Res Rev Mutat Res; 2021 Mar 04; 787():108373. PubMed ID: 34083042
    [Abstract] [Full Text] [Related]

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