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 *

347 related articles for article (PubMed ID: 23895455)

  • 1. Making headway with genetic diagnostics of intellectual disabilities.
    Willemsen MH; Kleefstra T
    Clin Genet; 2014 Feb; 85(2):101-10. PubMed ID: 23895455
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Genetic diagnostics in intellectual disability: what is the benefit?].
    Willemsen MH; Kleefstra T
    Ned Tijdschr Geneeskd; 2014; 158():A8098. PubMed ID: 25406822
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Challenges and opportunities in the investigation of unexplained intellectual disability using family-based whole-exome sequencing.
    Helsmoortel C; Vandeweyer G; Ordoukhanian P; Van Nieuwerburgh F; Van der Aa N; Kooy RF
    Clin Genet; 2015 Aug; 88(2):140-8. PubMed ID: 25081361
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Updates in the genetic evaluation of the child with global developmental delay or intellectual disability.
    Flore LA; Milunsky JM
    Semin Pediatr Neurol; 2012 Dec; 19(4):173-80. PubMed ID: 23245550
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Array CGH analysis of a cohort of Russian patients with intellectual disability.
    Kashevarova AA; Nazarenko LP; Skryabin NA; Salyukova OA; Chechetkina NN; Tolmacheva EN; Sazhenova EA; Magini P; Graziano C; Romeo G; Kučinskas V; Lebedev IN
    Gene; 2014 Feb; 536(1):145-50. PubMed ID: 24291026
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.
    Anazi S; Maddirevula S; Faqeih E; Alsedairy H; Alzahrani F; Shamseldin HE; Patel N; Hashem M; Ibrahim N; Abdulwahab F; Ewida N; Alsaif HS; Al Sharif H; Alamoudi W; Kentab A; Bashiri FA; Alnaser M; AlWadei AH; Alfadhel M; Eyaid W; Hashem A; Al Asmari A; Saleh MM; AlSaman A; Alhasan KA; Alsughayir M; Al Shammari M; Mahmoud A; Al-Hassnan ZN; Al-Husain M; Osama Khalil R; Abd El Meguid N; Masri A; Ali R; Ben-Omran T; El Fishway P; Hashish A; Ercan Sencicek A; State M; Alazami AM; Salih MA; Altassan N; Arold ST; Abouelhoda M; Wakil SM; Monies D; Shaheen R; Alkuraya FS
    Mol Psychiatry; 2017 Apr; 22(4):615-624. PubMed ID: 27431290
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pathogenic or not? Assessing the clinical relevance of copy number variants.
    Hehir-Kwa JY; Pfundt R; Veltman JA; de Leeuw N
    Clin Genet; 2013 Nov; 84(5):415-21. PubMed ID: 23895381
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Etiological yield of SNP microarrays in idiopathic intellectual disability.
    Utine GE; Haliloğlu G; Volkan-Salancı B; Çetinkaya A; Kiper PÖ; Alanay Y; Aktaş D; Anlar B; Topçu M; Boduroğlu K; Alikaşifoğlu M
    Eur J Paediatr Neurol; 2014 May; 18(3):327-37. PubMed ID: 24508361
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Next-generation diagnostics: gene panel, exome, or whole genome?
    Sun Y; Ruivenkamp CA; Hoffer MJ; Vrijenhoek T; Kriek M; van Asperen CJ; den Dunnen JT; Santen GW
    Hum Mutat; 2015 Jun; 36(6):648-55. PubMed ID: 25772376
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Next Generation Sequencing and Genome-Wide Genotyping Identify the Genetic Causes of Intellectual Disability in Ten Consanguineous Families from Jordan.
    Froukh TJ
    Tohoku J Exp Med; 2017 Dec; 243(4):297-309. PubMed ID: 29269699
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Exome sequencing identifies three novel candidate genes implicated in intellectual disability.
    Agha Z; Iqbal Z; Azam M; Ayub H; Vissers LE; Gilissen C; Ali SH; Riaz M; Veltman JA; Pfundt R; van Bokhoven H; Qamar R
    PLoS One; 2014; 9(11):e112687. PubMed ID: 25405613
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
    Dias KR; Shrestha R; Schofield D; Evans CA; O'Heir E; Zhu Y; Zhang F; Standen K; Weisburd B; Stenton SL; Sanchis-Juan A; Brand H; Talkowski ME; Ma A; Ghedia S; Wilson M; Sandaradura SA; Smith J; Kamien B; Turner A; Bakshi M; Adès LC; Mowat D; Regan M; McGillivray G; Savarirayan R; White SM; Tan TY; Stark Z; Brown NJ; Pérez-Jurado LA; Krzesinski E; Hunter MF; Akesson L; Fennell AP; Yeung A; Boughtwood T; Ewans LJ; Kerkhof J; Lucas C; Carey L; French H; Rapadas M; Stevanovski I; Deveson IW; Cliffe C; Elakis G; Kirk EP; Dudding-Byth T; Fletcher J; Walsh R; Corbett MA; Kroes T; Gecz J; Meldrum C; Cliffe S; Wall M; Lunke S; North K; Amor DJ; Field M; Sadikovic B; Buckley MF; O'Donnell-Luria A; Roscioli T
    Genet Med; 2024 May; 26(5):101076. PubMed ID: 38258669
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Genome sequencing identifies major causes of severe intellectual disability.
    Gilissen C; Hehir-Kwa JY; Thung DT; van de Vorst M; van Bon BW; Willemsen MH; Kwint M; Janssen IM; Hoischen A; Schenck A; Leach R; Klein R; Tearle R; Bo T; Pfundt R; Yntema HG; de Vries BB; Kleefstra T; Brunner HG; Vissers LE; Veltman JA
    Nature; 2014 Jul; 511(7509):344-7. PubMed ID: 24896178
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Comorbidities associated with genetic abnormalities in children with intellectual disability.
    Chen JS; Yu WH; Tsai MC; Hung PL; Tu YF
    Sci Rep; 2021 Mar; 11(1):6563. PubMed ID: 33753861
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Detection of clinically relevant copy number variants with whole-exome sequencing.
    de Ligt J; Boone PM; Pfundt R; Vissers LE; Richmond T; Geoghegan J; O'Moore K; de Leeuw N; Shaw C; Brunner HG; Lupski JR; Veltman JA; Hehir-Kwa JY
    Hum Mutat; 2013 Oct; 34(10):1439-48. PubMed ID: 23893877
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Next generation sequencing--implications for clinical practice.
    Raffan E; Semple RK
    Br Med Bull; 2011; 99():53-71. PubMed ID: 21705347
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 18.