These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

148 related articles for article (PubMed ID: 30246882)

  • 21. Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.
    Basha M; Demeer B; Revencu N; Helaers R; Theys S; Bou Saba S; Boute O; Devauchelle B; Francois G; Bayet B; Vikkula M
    J Med Genet; 2018 Jul; 55(7):449-458. PubMed ID: 29500247
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Rare variants in previously identified linkage regions associated with carotid plaque in Dominican Republic families.
    Dueker ND; Beecham A; Wang L; Dong C; Sacco RL; Blanton SH; Rundek T
    PLoS One; 2022; 17(1):e0250799. PubMed ID: 35020748
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Exome sequencing in families with severe mental illness identifies novel and rare variants in genes implicated in Mendelian neuropsychiatric syndromes.
    Ganesh S; Ahmed P H; Nadella RK; More RP; Seshadri M; Viswanath B; Rao M; Jain S; ; Mukherjee O
    Psychiatry Clin Neurosci; 2019 Jan; 73(1):11-19. PubMed ID: 30367527
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Exome Sequencing of Familial Bipolar Disorder.
    Goes FS; Pirooznia M; Parla JS; Kramer M; Ghiban E; Mavruk S; Chen YC; Monson ET; Willour VL; Karchin R; Flickinger M; Locke AE; Levy SE; Scott LJ; Boehnke M; Stahl E; Moran JL; Hultman CM; Landén M; Purcell SM; Sklar P; Zandi PP; McCombie WR; Potash JB
    JAMA Psychiatry; 2016 Jun; 73(6):590-7. PubMed ID: 27120077
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.
    Pengelly RJ; Upstill-Goddard R; Arias L; Martinez J; Gibson J; Knut M; Collins AL; Ennis S; Collins A; Briceno I
    Clin Genet; 2015 Nov; 88(5):441-9. PubMed ID: 25441681
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Homozygosity Haplotype and Whole-Exome Sequencing Analysis to Identify Potentially Functional Rare Variants Involved in Multiple Sclerosis among Sardinian Families.
    Fazia T; Marzanati D; Carotenuto AL; Beecham A; Hadjixenofontos A; McCauley JL; Saddi V; Piras M; Bernardinelli L; Gentilini D
    Curr Issues Mol Biol; 2021 Oct; 43(3):1778-1793. PubMed ID: 34889895
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Whole exome sequencing in thrombophilic pedigrees to identify genetic risk factors for venous thromboembolism.
    Cunha MLR; Meijers JCM; Rosendaal FR; Vlieg AVH; Reitsma PH; Middeldorp S
    PLoS One; 2017; 12(11):e0187699. PubMed ID: 29117201
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the TYK2 gene.
    Dyment DA; Cader MZ; Chao MJ; Lincoln MR; Morrison KM; Disanto G; Morahan JM; De Luca GC; Sadovnick AD; Lepage P; Montpetit A; Ebers GC; Ramagopalan SV
    Neurology; 2012 Jul; 79(5):406-11. PubMed ID: 22744673
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Identification and genomic analysis of pedigrees with exceptional longevity identifies candidate rare variants.
    Miller JB; Ward E; Staley LA; Stevens J; Teerlink CC; Tavana JP; Cloward M; Page M; Dayton L; ; Cannon-Albright LA; Kauwe JSK
    Neurobiol Dis; 2020 Sep; 143():104972. PubMed ID: 32574725
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.
    Farlow JL; Lin H; Sauerbeck L; Lai D; Koller DL; Pugh E; Hetrick K; Ling H; Kleinloog R; van der Vlies P; Deelen P; Swertz MA; Verweij BH; Regli L; Rinkel GJ; Ruigrok YM; Doheny K; Liu Y; Broderick J; Foroud T;
    PLoS One; 2015; 10(3):e0121104. PubMed ID: 25803036
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis.
    Chen R; Wei Q; Zhan X; Zhong X; Sutcliffe JS; Cox NJ; Cook EH; Li C; Chen W; Li B
    Bioinformatics; 2015 May; 31(9):1452-9. PubMed ID: 25568282
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family.
    Lindholm Carlström E; Halvardson J; Etemadikhah M; Wetterberg L; Gustavson KH; Feuk L
    BMC Med Genomics; 2019 Nov; 12(1):156. PubMed ID: 31694657
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Power of family-based association designs to detect rare variants in large pedigrees using imputed genotypes.
    Saad M; Wijsman EM
    Genet Epidemiol; 2014 Jan; 38(1):1-9. PubMed ID: 24243664
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Sequencing of candidate genes in Dominican families implicates both rare exonic and common non-exonic variants for carotid intima-media thickness at bifurcation.
    Wang L; Beecham A; Dueker N; Blanton SH; Rundek T; Sacco RL
    Hum Genet; 2015 Oct; 134(10):1127-38. PubMed ID: 26319989
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Family-based exome sequencing combined with linkage analyses identifies rare susceptibility variants of MUC4 for gastric cancer.
    Choi YJ; Ohn JH; Kim N; Kim W; Park K; Won S; Sael L; Shin CM; Lee SM; Lee S; An HJ; Jang DM; Han BW; Lee HS; Kang SJ; Kim JS; Lee DH
    PLoS One; 2020; 15(7):e0236197. PubMed ID: 32701958
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Three GLI2 mutations combined potentially underlie non-syndromic cleft lip with or without cleft palate in a Chinese pedigree.
    Meng P; Zhao H; Huang W; Zhang Y; Zhong W; Zhang M; Jia P; Zhou Z; Maimaitili G; Chen F; Zhang J; Lin J
    Mol Genet Genomic Med; 2019 Sep; 7(9):e714. PubMed ID: 31386309
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Estimating genetic effects and quantifying missing heritability explained by identified rare-variant associations.
    Liu DJ; Leal SM
    Am J Hum Genet; 2012 Oct; 91(4):585-96. PubMed ID: 23022102
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.
    Cipriani V; Kalhoro A; Arno G; Silva RS; Pontikos N; Puech V; McClements ME; Hunt DM; van Heyningen V; Michaelides M; Webster AR; Moore AT; Puech B
    Ophthalmic Genet; 2017 Dec; 38(6):511-519. PubMed ID: 28635424
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Leveraging Identity-by-Descent for Accurate Genotype Inference in Family Sequencing Data.
    Li B; Wei Q; Zhan X; Zhong X; Chen W; Li C; Haines J
    PLoS Genet; 2015 Jun; 11(6):e1005271. PubMed ID: 26043085
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of ANK3 and additional rare alleles at 10q11-q21.
    Toma C; Shaw AD; Heath A; Pierce KD; Mitchell PB; Schofield PR; Fullerton JM
    J Psychiatry Neurosci; 2021 Mar; 46(2):E247-E257. PubMed ID: 33729739
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.