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 *

218 related articles for article (PubMed ID: 34022131)

  • 21. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
    Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
    Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with
    Balasubramanian M; Willoughby J; Fry AE; Weber A; Firth HV; Deshpande C; Berg JN; Chandler K; Metcalfe KA; Lam W; Pilz DT; Tomkins S
    J Med Genet; 2017 Aug; 54(8):537-543. PubMed ID: 28100473
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
    Hiraide T; Yamoto K; Masunaga Y; Asahina M; Endoh Y; Ohkubo Y; Matsubayashi T; Tsurui S; Yamada H; Yanagi K; Nakashima M; Hirano K; Sugimura H; Fukuda T; Ogata T; Saitsu H
    Clin Genet; 2021 Jul; 100(1):40-50. PubMed ID: 33644862
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.
    Lecoquierre F; Duffourd Y; Vitobello A; Bruel AL; Urteaga B; Coubes C; Garret P; Nambot S; Chevarin M; Jouan T; Moutton S; ; Tran-Mau-Them F; Philippe C; Sorlin A; Faivre L; Thauvin-Robinet C
    Genet Med; 2019 Nov; 21(11):2504-2511. PubMed ID: 31036916
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Germline Mutations for Novel Candidate Predisposition Genes in Sporadic Schwannomatosis.
    Min BJ; Kang YK; Chung YG; Seo ME; Chang KB; Joo MW
    Clin Orthop Relat Res; 2020 Nov; 478(11):2442-2450. PubMed ID: 32281771
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Family-based analysis of the contribution of rare and common genetic variants to school performance in schizophrenia.
    Rammos A; Kirov G; Hubbard L; Walters JTR; Holmans P; Owen MJ; O'Donovan MC; Rees E
    Mol Psychiatry; 2023 May; 28(5):2081-2087. PubMed ID: 36914811
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity.
    Hutcheson KA; Paluru PC; Bernstein SL; Koh J; Rappaport EF; Leach RA; Young TL
    Mol Vis; 2005 Jul; 11():501-8. PubMed ID: 16052165
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
    Tran Mau-Them F; Moutton S; Racine C; Vitobello A; Bruel AL; Nambot S; Kushner SA; de Vrij FMS; Lehalle D; Jean-Marçais N; Lecoquierre F; Delanne J; Thevenon J; Poe C; Jouan T; Chevarin M; Geneviève D; Willems M; Coubes C; Houcinat N; Masurel-Paulet A; Mosca-Boidron AL; Tisserant E; Callier P; Sorlin A; Duffourd Y; Faivre L; Philippe C; Thauvin-Robinet C
    Hum Genet; 2020 Nov; 139(11):1381-1390. PubMed ID: 32399599
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
    Papuc SM; Abela L; Steindl K; Begemann A; Simmons TL; Schmitt B; Zweier M; Oneda B; Socher E; Crowther LM; Wohlrab G; Gogoll L; Poms M; Seiler M; Papik M; Baldinger R; Baumer A; Asadollahi R; Kroell-Seger J; Schmid R; Iff T; Schmitt-Mechelke T; Otten K; Hackenberg A; Addor MC; Klein A; Azzarello-Burri S; Sticht H; Joset P; Plecko B; Rauch A
    Eur J Hum Genet; 2019 Mar; 27(3):408-421. PubMed ID: 30552426
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A Whole-Exome Sequencing Study of Tourette Disorder in a Chinese Population.
    Zhao X; Wang S; Hao J; Zhu P; Zhang X; Wu M
    DNA Cell Biol; 2020 Jan; 39(1):63-68. PubMed ID: 31855460
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
    Sollis E; Graham SA; Vino A; Froehlich H; Vreeburg M; Dimitropoulou D; Gilissen C; Pfundt R; Rappold GA; Brunner HG; Deriziotis P; Fisher SE
    Hum Mol Genet; 2016 Feb; 25(3):546-57. PubMed ID: 26647308
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.
    Martin-Geary AC; Blakes AJM; Dawes R; Findlay SD; Lord J; Walker S; Talbot-Martin J; Wieder N; D'Souza EN; Fernandes M; Hilton S; Lahiri N; Campbell C; Jenkinson S; DeGoede CGEL; Anderson ER; Burge CB; Sanders SJ; Ellingford J; Baralle D; Banka S; Whiffin N
    medRxiv; 2023 Sep; ():. PubMed ID: 37745552
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.
    Chung DD; Frausto RF; Cervantes AE; Gee KM; Zakharevich M; Hanser EM; Stone EM; Heon E; Aldave AJ
    PLoS One; 2017; 12(1):e0169215. PubMed ID: 28046031
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance.
    Beaumont RN; Hawkes G; Gunning AC; Wright CF
    Genome Med; 2024 Apr; 16(1):64. PubMed ID: 38671509
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
    Veeramah KR; Johnstone L; Karafet TM; Wolf D; Sprissler R; Salogiannis J; Barth-Maron A; Greenberg ME; Stuhlmann T; Weinert S; Jentsch TJ; Pazzi M; Restifo LL; Talwar D; Erickson RP; Hammer MF
    Epilepsia; 2013 Jul; 54(7):1270-81. PubMed ID: 23647072
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Whole exome sequencing in recurrent early pregnancy loss.
    Qiao Y; Wen J; Tang F; Martell S; Shomer N; Leung PC; Stephenson MD; Rajcan-Separovic E
    Mol Hum Reprod; 2016 May; 22(5):364-72. PubMed ID: 26826164
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Contribution of retrotransposition to developmental disorders.
    Gardner EJ; Prigmore E; Gallone G; Danecek P; Samocha KE; Handsaker J; Gerety SS; Ironfield H; Short PJ; Sifrim A; Singh T; Chandler KE; Clement E; Lachlan KL; Prescott K; Rosser E; FitzPatrick DR; Firth HV; Hurles ME
    Nat Commun; 2019 Oct; 10(1):4630. PubMed ID: 31604926
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Genetic variants in progranulin upstream open reading frames increase downstream protein expression.
    Frydas A; Cacace R; van der Zee J; Van Broeckhoven C; Wauters E
    Neurobiol Aging; 2022 Feb; 110():113-121. PubMed ID: 34620513
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
    Pagnamenta AT; Murakami Y; Taylor JM; Anzilotti C; Howard MF; Miller V; Johnson DS; Tadros S; Mansour S; Temple IK; Firth R; Rosser E; Harrison RE; Kerr B; Popitsch N; ; Kinoshita T; Taylor JC; Kini U
    Eur J Hum Genet; 2017 Jun; 25(6):669-679. PubMed ID: 28327575
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.