BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

571 related articles for article (PubMed ID: 28327206)

  • 1. Lessons learned from additional research analyses of unsolved clinical exome cases.
    Eldomery MK; Coban-Akdemir Z; Harel T; Rosenfeld JA; Gambin T; Stray-Pedersen A; Küry S; Mercier S; Lessel D; Denecke J; Wiszniewski W; Penney S; Liu P; Bi W; Lalani SR; Schaaf CP; Wangler MF; Bacino CA; Lewis RA; Potocki L; Graham BH; Belmont JW; Scaglia F; Orange JS; Jhangiani SN; Chiang T; Doddapaneni H; Hu J; Muzny DM; Xia F; Beaudet AL; Boerwinkle E; Eng CM; Plon SE; Sutton VR; Gibbs RA; Posey JE; Yang Y; Lupski JR
    Genome Med; 2017 Mar; 9(1):26. PubMed ID: 28327206
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
    Harel T; Yoon WH; Garone C; Gu S; Coban-Akdemir Z; Eldomery MK; Posey JE; Jhangiani SN; Rosenfeld JA; Cho MT; Fox S; Withers M; Brooks SM; Chiang T; Duraine L; Erdin S; Yuan B; Shao Y; Moussallem E; Lamperti C; Donati MA; Smith JD; McLaughlin HM; Eng CM; Walkiewicz M; Xia F; Pippucci T; Magini P; Seri M; Zeviani M; Hirano M; Hunter JV; Srour M; Zanigni S; Lewis RA; Muzny DM; Lotze TE; Boerwinkle E; ; ; Gibbs RA; Hickey SE; Graham BH; Yang Y; Buhas D; Martin DM; Potocki L; Graziano C; Bellen HJ; Lupski JR
    Am J Hum Genet; 2016 Oct; 99(4):831-845. PubMed ID: 27640307
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Increase in diagnostic yield achieved for 174 whole-exome sequencing cases reanalyzed 1-2 years after initial analysis.
    Liu Y; Teng Y; Li Z; Cui J; Liang D; Wu L
    Clin Chim Acta; 2021 Dec; 523():163-168. PubMed ID: 34560057
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
    Charng WL; Karaca E; Coban Akdemir Z; Gambin T; Atik MM; Gu S; Posey JE; Jhangiani SN; Muzny DM; Doddapaneni H; Hu J; Boerwinkle E; Gibbs RA; Rosenfeld JA; Cui H; Xia F; Manickam K; Yang Y; Faqeih EA; Al Asmari A; Saleh MA; El-Hattab AW; Lupski JR
    BMC Med Genomics; 2016 Jul; 9(1):42. PubMed ID: 27435318
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
    Ghaoui R; Cooper ST; Lek M; Jones K; Corbett A; Reddel SW; Needham M; Liang C; Waddell LB; Nicholson G; O'Grady G; Kaur S; Ong R; Davis M; Sue CM; Laing NG; North KN; MacArthur DG; Clarke NF
    JAMA Neurol; 2015 Dec; 72(12):1424-32. PubMed ID: 26436962
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical application of whole-exome sequencing across clinical indications.
    Retterer K; Juusola J; Cho MT; Vitazka P; Millan F; Gibellini F; Vertino-Bell A; Smaoui N; Neidich J; Monaghan KG; McKnight D; Bai R; Suchy S; Friedman B; Tahiliani J; Pineda-Alvarez D; Richard G; Brandt T; Haverfield E; Chung WK; Bale S
    Genet Med; 2016 Jul; 18(7):696-704. PubMed ID: 26633542
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.
    Jalkh N; Corbani S; Haidar Z; Hamdan N; Farah E; Abou Ghoch J; Ghosn R; Salem N; Fawaz A; Djambas Khayat C; Rajab M; Mourani C; Moukarzel A; Rassi S; Gerbaka B; Mansour H; Baassiri M; Dagher R; Breich D; Mégarbané A; Desvignes JP; Delague V; Mehawej C; Chouery E
    BMC Med Genomics; 2019 Jan; 12(1):11. PubMed ID: 30665423
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
    Gu F; Wu A; Gordon MG; Vlahos L; Macnamara S; Burke E; Malicdan MC; Adams DR; Tifft CJ; Toro C; Gahl WA; Markello TC
    Genet Med; 2019 Aug; 21(8):1772-1780. PubMed ID: 30700791
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders.
    Mutarelli M; Marwah V; Rispoli R; Carrella D; Dharmalingam G; Oliva G; di Bernardo D
    BMC Genomics; 2014; 15 Suppl 3(Suppl 3):S5. PubMed ID: 25078076
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
    Ewans LJ; Schofield D; Shrestha R; Zhu Y; Gayevskiy V; Ying K; Walsh C; Lee E; Kirk EP; Colley A; Ellaway C; Turner A; Mowat D; Worgan L; Freckmann ML; Lipke M; Sachdev R; Miller D; Field M; Dinger ME; Buckley MF; Cowley MJ; Roscioli T
    Genet Med; 2018 Dec; 20(12):1564-1574. PubMed ID: 29595814
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
    Gambin T; Akdemir ZC; Yuan B; Gu S; Chiang T; Carvalho CMB; Shaw C; Jhangiani S; Boone PM; Eldomery MK; Karaca E; Bayram Y; Stray-Pedersen A; Muzny D; Charng WL; Bahrambeigi V; Belmont JW; Boerwinkle E; Beaudet AL; Gibbs RA; Lupski JR
    Nucleic Acids Res; 2017 Feb; 45(4):1633-1648. PubMed ID: 27980096
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
    LaDuca H; Farwell KD; Vuong H; Lu HM; Mu W; Shahmirzadi L; Tang S; Chen J; Bhide S; Chao EC
    PLoS One; 2017; 12(2):e0170843. PubMed ID: 28152038
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
    Monies D; Abouelhoda M; AlSayed M; Alhassnan Z; Alotaibi M; Kayyali H; Al-Owain M; Shah A; Rahbeeni Z; Al-Muhaizea MA; Alzaidan HI; Cupler E; Bohlega S; Faqeih E; Faden M; Alyounes B; Jaroudi D; Goljan E; Elbardisy H; Akilan A; Albar R; Aldhalaan H; Gulab S; Chedrawi A; Al Saud BK; Kurdi W; Makhseed N; Alqasim T; El Khashab HY; Al-Mousa H; Alhashem A; Kanaan I; Algoufi T; Alsaleem K; Basha TA; Al-Murshedi F; Khan S; Al-Kindy A; Alnemer M; Al-Hajjar S; Alyamani S; Aldhekri H; Al-Mehaidib A; Arnaout R; Dabbagh O; Shagrani M; Broering D; Tulbah M; Alqassmi A; Almugbel M; AlQuaiz M; Alsaman A; Al-Thihli K; Sulaiman RA; Al-Dekhail W; Alsaegh A; Bashiri FA; Qari A; Alhomadi S; Alkuraya H; Alsebayel M; Hamad MH; Szonyi L; Abaalkhail F; Al-Mayouf SM; Almojalli H; Alqadi KS; Elsiesy H; Shuaib TM; Seidahmed MZ; Abosoudah I; Akleh H; AlGhonaium A; Alkharfy TM; Al Mutairi F; Eyaid W; Alshanbary A; Sheikh FR; Alsohaibani FI; Alsonbul A; Al Tala S; Balkhy S; Bassiouni R; Alenizi AS; Hussein MH; Hassan S; Khalil M; Tabarki B; Alshahwan S; Oshi A; Sabr Y; Alsaadoun S; Salih MA; Mohamed S; Sultana H; Tamim A; El-Haj M; Alshahrani S; Bubshait DK; Alfadhel M; Faquih T; El-Kalioby M; Subhani S; Shah Z; Moghrabi N; Meyer BF; Alkuraya FS
    Hum Genet; 2017 Aug; 136(8):921-939. PubMed ID: 28600779
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Comparison study of whole exome sequencing and targeted panel sequencing in molecular diagnosis of inherited retinal dystrophies].
    Liu XZ; Li YY; Yang LP
    Beijing Da Xue Xue Bao Yi Xue Ban; 2020 Oct; 52(5):836-844. PubMed ID: 33047716
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of novel candidate disease genes from de novo exonic copy number variants.
    Gambin T; Yuan B; Bi W; Liu P; Rosenfeld JA; Coban-Akdemir Z; Pursley AN; Nagamani SCS; Marom R; Golla S; Dengle L; Petrie HG; Matalon R; Emrick L; Proud MB; Treadwell-Deering D; Chao HT; Koillinen H; Brown C; Urraca N; Mostafavi R; Bernes S; Roeder ER; Nugent KM; Bader PI; Bellus G; Cummings M; Northrup H; Ashfaq M; Westman R; Wildin R; Beck AE; Immken L; Elton L; Varghese S; Buchanan E; Faivre L; Lefebvre M; Schaaf CP; Walkiewicz M; Yang Y; Kang SL; Lalani SR; Bacino CA; Beaudet AL; Breman AM; Smith JL; Cheung SW; Lupski JR; Patel A; Shaw CA; Stankiewicz P
    Genome Med; 2017 Sep; 9(1):83. PubMed ID: 28934986
    [TBL] [Abstract][Full Text] [Related]  

  • 16. EVA: Exome Variation Analyzer, an efficient and versatile tool for filtering strategies in medical genomics.
    Coutant S; Cabot C; Lefebvre A; Léonard M; Prieur-Gaston E; Campion D; Lecroq T; Dauchel H
    BMC Bioinformatics; 2012; 13 Suppl 14(Suppl 14):S9. PubMed ID: 23095660
    [TBL] [Abstract][Full Text] [Related]  

  • 17. JWES: a new pipeline for whole genome/exome sequence data processing, management, and gene-variant discovery, annotation, prediction, and genotyping.
    Ahmed Z; Renart EG; Mishra D; Zeeshan S
    FEBS Open Bio; 2021 Sep; 11(9):2441-2452. PubMed ID: 34370400
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular findings among patients referred for clinical whole-exome sequencing.
    Yang Y; Muzny DM; Xia F; Niu Z; Person R; Ding Y; Ward P; Braxton A; Wang M; Buhay C; Veeraraghavan N; Hawes A; Chiang T; Leduc M; Beuten J; Zhang J; He W; Scull J; Willis A; Landsverk M; Craigen WJ; Bekheirnia MR; Stray-Pedersen A; Liu P; Wen S; Alcaraz W; Cui H; Walkiewicz M; Reid J; Bainbridge M; Patel A; Boerwinkle E; Beaudet AL; Lupski JR; Plon SE; Gibbs RA; Eng CM
    JAMA; 2014 Nov; 312(18):1870-9. PubMed ID: 25326635
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
    Zhu X; Petrovski S; Xie P; Ruzzo EK; Lu YF; McSweeney KM; Ben-Zeev B; Nissenkorn A; Anikster Y; Oz-Levi D; Dhindsa RS; Hitomi Y; Schoch K; Spillmann RC; Heimer G; Marek-Yagel D; Tzadok M; Han Y; Worley G; Goldstein J; Jiang YH; Lancet D; Pras E; Shashi V; McHale D; Need AC; Goldstein DB
    Genet Med; 2015 Oct; 17(10):774-81. PubMed ID: 25590979
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
    Lim EC; Brett M; Lai AH; Lee SP; Tan ES; Jamuar SS; Ng IS; Tan EC
    Hum Genomics; 2015 Dec; 9():33. PubMed ID: 26666243
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 29.