BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

211 related articles for article (PubMed ID: 37301908)

  • 1. Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
    Oddsson A; Sulem P; Sveinbjornsson G; Arnadottir GA; Steinthorsdottir V; Halldorsson GH; Atlason BA; Oskarsson GR; Helgason H; Nielsen HS; Westergaard D; Karjalainen JM; Katrinardottir H; Fridriksdottir R; Jensson BO; Tragante V; Ferkingstad E; Jonsson H; Gudjonsson SA; Beyter D; Moore KHS; Thordardottir HB; Kristmundsdottir S; Stefansson OA; Rantapää-Dahlqvist S; Sonderby IE; Didriksen M; Stridh P; Haavik J; Tryggvadottir L; Frei O; Walters GB; Kockum I; Hjalgrim H; Olafsdottir TA; Selbaek G; Nyegaard M; Erikstrup C; Brodersen T; Saevarsdottir S; Olsson T; Nielsen KR; Haraldsson A; Bruun MT; Hansen TF; ; Steingrimsdottir T; Jacobsen RL; Lie RT; Djurovic S; Alfredsson L; Lopez de Lapuente Portilla A; Brunak S; Melsted P; Halldorsson BV; Saemundsdottir J; Magnusson OT; Padyukov L; Banasik K; Rafnar T; Askling J; Klareskog L; Pedersen OB; Masson G; Havdahl A; Nilsson B; Andreassen OA; Daly M; Ostrowski SR; Jonsdottir I; Stefansson H; Holm H; Helgason A; Thorsteinsdottir U; Stefansson K; Gudbjartsson DF
    Nat Commun; 2023 Jun; 14(1):3453. PubMed ID: 37301908
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
    Arnadottir GA; Oddsson A; Jensson BO; Gisladottir S; Simon MT; Arnthorsson AO; Katrinardottir H; Fridriksdottir R; Ivarsdottir EV; Jonasdottir A; Jonasdottir A; Barrick R; Saemundsdottir J; le Roux L; Oskarsson GR; Asmundsson J; Steffensen T; Gudmundsson KR; Ludvigsson P; Jonsson JJ; Masson G; Jonsdottir I; Holm H; Jonasson JG; Magnusson OT; Thorarensen O; Abdenur J; Norddahl GL; Gudbjartsson DF; Bjornsson HT; Thorsteinsdottir U; Sulem P; Stefansson K
    Nat Commun; 2022 Feb; 13(1):705. PubMed ID: 35121750
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.
    Singh HP; Jalali S; Narayanan R; Kannabiran C
    Invest Ophthalmol Vis Sci; 2009 Sep; 50(9):4065-71. PubMed ID: 19339744
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A systematic approach to mapping recessive disease genes in individuals from outbred populations.
    Hildebrandt F; Heeringa SF; Rüschendorf F; Attanasio M; Nürnberg G; Becker C; Seelow D; Huebner N; Chernin G; Vlangos CN; Zhou W; O'Toole JF; Hoskins BE; Wolf MT; Hinkes BG; Chaib H; Ashraf S; Schoeb DS; Ovunc B; Allen SJ; Vega-Warner V; Wise E; Harville HM; Lyons RH; Washburn J; Macdonald J; Nürnberg P; Otto EA
    PLoS Genet; 2009 Jan; 5(1):e1000353. PubMed ID: 19165332
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genomic patterns of homozygosity in worldwide human populations.
    Pemberton TJ; Absher D; Feldman MW; Myers RM; Rosenberg NA; Li JZ
    Am J Hum Genet; 2012 Aug; 91(2):275-92. PubMed ID: 22883143
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals.
    Ghani M; Reitz C; Cheng R; Vardarajan BN; Jun G; Sato C; Naj A; Rajbhandary R; Wang LS; Valladares O; Lin CF; Larson EB; Graff-Radford NR; Evans D; De Jager PL; Crane PK; Buxbaum JD; Murrell JR; Raj T; Ertekin-Taner N; Logue M; Baldwin CT; Green RC; Barnes LL; Cantwell LB; Fallin MD; Go RC; Griffith PA; Obisesan TO; Manly JJ; Lunetta KL; Kamboh MI; Lopez OL; Bennett DA; Hendrie H; Hall KS; Goate AM; Byrd GS; Kukull WA; Foroud TM; Haines JL; Farrer LA; Pericak-Vance MA; Lee JH; Schellenberg GD; St George-Hyslop P; Mayeux R; Rogaeva E;
    JAMA Neurol; 2015 Nov; 72(11):1313-23. PubMed ID: 26366463
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
    Siemiatkowska AM; Arimadyo K; Moruz LM; Astuti GD; de Castro-Miro M; Zonneveld MN; Strom TM; de Wijs IJ; Hoefsloot LH; Faradz SM; Cremers FP; den Hollander AI; Collin RW
    Mol Vis; 2011; 17():3013-24. PubMed ID: 22128245
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
    De Sandre-Giovannoli A; Chaouch M; Kozlov S; Vallat JM; Tazir M; Kassouri N; Szepetowski P; Hammadouche T; Vandenberghe A; Stewart CL; Grid D; Lévy N
    Am J Hum Genet; 2002 Mar; 70(3):726-36. PubMed ID: 11799477
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies.
    Levine AP; Connor TM; Oygar DD; Neild GH; Segal AW; Maxwell PH; Gale DP
    BMC Genomics; 2015 Mar; 16(1):163. PubMed ID: 25888400
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation.
    Gudbjartsson DF; Holm H; Sulem P; Masson G; Oddsson A; Magnusson OT; Saemundsdottir J; Helgadottir HT; Helgason H; Johannsdottir H; Gretarsdottir S; Gudjonsson SA; Njølstad I; Løchen ML; Baum L; Ma RC; Sigfusson G; Kong A; Thorgeirsson G; Sverrisson JT; Thorsteinsdottir U; Stefansson K; Arnar DO
    Eur Heart J; 2017 Jan; 38(1):27-34. PubMed ID: 27742809
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease.
    Simón-Sánchez J; Kilarski LL; Nalls MA; Martinez M; Schulte C; Holmans P; ; ; Gasser T; Hardy J; Singleton AB; Wood NW; Brice A; Heutink P; Williams N; Morris HR
    PLoS One; 2012; 7(3):e28787. PubMed ID: 22427796
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes.
    Rausell A; Luo Y; Lopez M; Seeleuthner Y; Rapaport F; Favier A; Stenson PD; Cooper DN; Patin E; Casanova JL; Quintana-Murci L; Abel L
    Proc Natl Acad Sci U S A; 2020 Jun; 117(24):13626-13636. PubMed ID: 32487729
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Rare homozygosity in amyotrophic lateral sclerosis suggests the contribution of recessive variants to disease genetics.
    Goldstein O; Kedmi M; Gana-Weisz M; Twito S; Nefussy B; Vainer B; Fainmesser Y; Abraham A; Nayshool O; Orr-Urtreger A; Drory VE
    J Neurol Sci; 2019 Jul; 402():62-68. PubMed ID: 31108397
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
    Rehman AU; Santos-Cortez RL; Drummond MC; Shahzad M; Lee K; Morell RJ; Ansar M; Jan A; Wang X; Aziz A; Riazuddin S; Smith JD; Wang GT; Ahmed ZM; Gul K; Shearer AE; Smith RJ; Shendure J; Bamshad MJ; Nickerson DA; ; Hinnant J; Khan SN; Fisher RA; Ahmad W; Friderici KH; Riazuddin S; Friedman TB; Wilch ES; Leal SM
    Eur J Hum Genet; 2015 Sep; 23(9):1207-15. PubMed ID: 25491636
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
    Elsayed SM; Phillips JB; Heller R; Thoenes M; Elsobky E; Nürnberg G; Nürnberg P; Seland S; Ebermann I; Altmüller J; Thiele H; Toliat M; Körber F; Hu XJ; Wu YD; Zaki MS; Abdel-Salam G; Gleeson J; Boltshauser E; Westerfield M; Bolz HJ
    Hum Mol Genet; 2015 May; 24(9):2594-603. PubMed ID: 25616960
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.
    Srilekha S; Arokiasamy T; Srikrupa NN; Umashankar V; Meenakshi S; Sen P; Kapur S; Soumittra N
    PLoS One; 2015; 10(7):e0131679. PubMed ID: 26147992
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease.
    Wakeling MN; Laver TW; Wright CF; De Franco E; Stals KL; Patch AM; Hattersley AT; Flanagan SE; Ellard S;
    Genet Med; 2019 Apr; 21(4):982-986. PubMed ID: 30279471
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mendelian gene identification through mouse embryo viability screening.
    Cacheiro P; Westerberg CH; Mager J; Dickinson ME; Nutter LMJ; Muñoz-Fuentes V; Hsu CW; Van den Veyver IB; Flenniken AM; McKerlie C; Murray SA; Teboul L; Heaney JD; Lloyd KCK; Lanoue L; Braun RE; White JK; Creighton AK; Laurin V; Guo R; Qu D; Wells S; Cleak J; Bunton-Stasyshyn R; Stewart M; Harrisson J; Mason J; Haseli Mashhadi H; Parkinson H; Mallon AM; ; ; Smedley D
    Genome Med; 2022 Oct; 14(1):119. PubMed ID: 36229886
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.
    Olson TM; Karst ML; Whitby FG; Driscoll DJ
    Circulation; 2002 May; 105(20):2337-40. PubMed ID: 12021217
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Haplotypes responsible for early embryonic lethality detected in Nordic Holsteins.
    Wu X; Mesbah-Uddin M; Guldbrandtsen B; Lund MS; Sahana G
    J Dairy Sci; 2019 Dec; 102(12):11116-11123. PubMed ID: 31548059
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.