BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

195 related articles for article (PubMed ID: 37107571)

  • 1. Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
    Alvarez-Mora MI; Rodríguez-Revenga L; Jodar M; Potrony M; Sanchez A; Badenas C; Oriola J; Villanueva-Cañas JL; Muñoz E; Valldeoriola F; Cámara A; Compta Y; Carreño M; Martí MJ; Sánchez-Valle R; Madrigal I
    Genes (Basel); 2023 Mar; 14(4):. PubMed ID: 37107571
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability.
    Snoeijen-Schouwenaars FM; van Ool JS; Verhoeven JS; van Mierlo P; Braakman HMH; Smeets EE; Nicolai J; Schoots J; Teunissen MWA; Rouhl RPW; Tan IY; Yntema HG; Brunner HG; Pfundt R; Stegmann AP; Kamsteeg EJ; Schelhaas HJ; Willemsen MH
    Epilepsia; 2019 Jan; 60(1):155-164. PubMed ID: 30525188
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Monogenic variants in dystonia: an exome-wide sequencing study.
    Zech M; Jech R; Boesch S; Škorvánek M; Weber S; Wagner M; Zhao C; Jochim A; Necpál J; Dincer Y; Vill K; Distelmaier F; Stoklosa M; Krenn M; Grunwald S; Bock-Bierbaum T; Fečíková A; Havránková P; Roth J; Příhodová I; Adamovičová M; Ulmanová O; Bechyně K; Danhofer P; Veselý B; Haň V; Pavelekova P; Gdovinová Z; Mantel T; Meindl T; Sitzberger A; Schröder S; Blaschek A; Roser T; Bonfert MV; Haberlandt E; Plecko B; Leineweber B; Berweck S; Herberhold T; Langguth B; Švantnerová J; Minár M; Ramos-Rivera GA; Wojcik MH; Pajusalu S; Õunap K; Schatz UA; Pölsler L; Milenkovic I; Laccone F; Pilshofer V; Colombo R; Patzer S; Iuso A; Vera J; Troncoso M; Fang F; Prokisch H; Wilbert F; Eckenweiler M; Graf E; Westphal DS; Riedhammer KM; Brunet T; Alhaddad B; Berutti R; Strom TM; Hecht M; Baumann M; Wolf M; Telegrafi A; Person RE; Zamora FM; Henderson LB; Weise D; Musacchio T; Volkmann J; Szuto A; Becker J; Cremer K; Sycha T; Zimprich F; Kraus V; Makowski C; Gonzalez-Alegre P; Bardakjian TM; Ozelius LJ; Vetro A; Guerrini R; Maier E; Borggraefe I; Kuster A; Wortmann SB; Hackenberg A; Steinfeld R; Assmann B; Staufner C; Opladen T; Růžička E; Cohn RD; Dyment D; Chung WK; Engels H; Ceballos-Baumann A; Ploski R; Daumke O; Haslinger B; Mall V; Oexle K; Winkelmann J
    Lancet Neurol; 2020 Nov; 19(11):908-918. PubMed ID: 33098801
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
    Salfati EL; Spencer EG; Topol SE; Muse ED; Rueda M; Lucas JR; Wagner GN; Campman S; Topol EJ; Torkamani A
    Genome Med; 2019 Dec; 11(1):83. PubMed ID: 31847883
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy.
    Costain G; Cordeiro D; Matviychuk D; Mercimek-Andrews S
    Neuroscience; 2019 Oct; 418():291-310. PubMed ID: 31487502
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.
    Minardi R; Licchetta L; Baroni MC; Pippucci T; Stipa C; Mostacci B; Severi G; Toni F; Bergonzini L; Carelli V; Seri M; Tinuper P; Bisulli F
    Clin Genet; 2020 Nov; 98(5):477-485. PubMed ID: 32725632
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
    Thevenon J; Duffourd Y; Masurel-Paulet A; Lefebvre M; Feillet F; El Chehadeh-Djebbar S; St-Onge J; Steinmetz A; Huet F; Chouchane M; Darmency-Stamboul V; Callier P; Thauvin-Robinet C; Faivre L; Rivière JB
    Clin Genet; 2016 Jun; 89(6):700-7. PubMed ID: 26757139
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders.
    Ngo KJ; Rexach JE; Lee H; Petty LE; Perlman S; Valera JM; Deignan JL; Mao Y; Aker M; Posey JE; Jhangiani SN; Coban-Akdemir ZH; Boerwinkle E; Muzny D; Nelson AB; Hassin-Baer S; Poke G; Neas K; Geschwind MD; Grody WW; Gibbs R; Geschwind DH; Lupski JR; Below JE; Nelson SF; Fogel BL
    Hum Mutat; 2020 Feb; 41(2):487-501. PubMed ID: 31692161
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.
    ;
    Am J Hum Genet; 2019 Aug; 105(2):267-282. PubMed ID: 31327507
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
    Al Anazi AH; Ammar AS; Al-Hajj M; Cyrus C; Aljaafari D; Khoda I; Abdelfatah AK; Alsulaiman AA; Alanazi F; Alanazi R; Gandla D; Lad H; Barayan S; Keating BJ; Al-Ali AK
    Hum Genomics; 2022 Dec; 16(1):71. PubMed ID: 36539902
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
    Kose M; Isik E; Aykut A; Durmaz A; Kose E; Ersoy M; Diniz G; Adebali O; Ünalp A; Yilmaz Ü; Karaoğlu P; Edizer S; Tekin HG; Özdemir TR; Atik T; Onay H; Özkınay F
    J Pediatr Endocrinol Metab; 2021 Apr; 34(4):417-430. PubMed ID: 33629572
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea.
    Lee JY; Oh SH; Keum C; Lee BL; Chung WY
    Ann Hum Genet; 2024 Mar; 88(2):101-112. PubMed ID: 37795942
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates.
    Al-Shamsi A; Hertecant JL; Souid AK; Al-Jasmi FA
    Orphanet J Rare Dis; 2016 Jul; 11(1):94. PubMed ID: 27391121
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
    Álvarez-Mora MI; Sánchez A; Rodríguez-Revenga L; Corominas J; Rabionet R; Puig S; Madrigal I
    Orphanet J Rare Dis; 2022 Feb; 17(1):60. PubMed ID: 35183220
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.
    Tumienė B; Maver A; Writzl K; Hodžić A; Čuturilo G; Kuzmanić-Šamija R; Čulić V; Peterlin B
    Clin Genet; 2018 May; 93(5):1057-1062. PubMed ID: 29286531
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Tiered analysis of whole-exome sequencing for epilepsy diagnosis.
    Dunn PJ; Maher BH; Albury CL; Stuart S; Sutherland HG; Maksemous N; Benton MC; Smith RA; Haupt LM; Griffiths LR
    Mol Genet Genomics; 2020 May; 295(3):751-763. PubMed ID: 32146541
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
    Prasad A; Sdano MA; Vanzo RJ; Mowery-Rushton PA; Serrano MA; Hensel CH; Wassman ER
    BMC Med Genet; 2018 Mar; 19(1):46. PubMed ID: 29554876
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Exome sequencing in adult neurology practice: Challenges and rewards in a mixed resource setting.
    Nagappa M; Bindu PS; Sinha S; Mathuranath PS; Taly AB
    Clin Neurol Neurosurg; 2018 Nov; 174():48-56. PubMed ID: 30212743
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.