BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 37221554)

  • 1. A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree.
    Yu L; Ding H; Liu M; Liu L; Zhang Q; Lu J; Guo F; Zhang Y
    BMC Med Genomics; 2023 May; 16(1):114. PubMed ID: 37221554
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study.
    Zhai Y; Zhang Z; Shi P; Martin DM; Kong X
    Hum Mutat; 2021 Aug; 42(8):990-1004. PubMed ID: 34015165
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A rigorous
    Ben-Mahmoud A; Jun KR; Gupta V; Shastri P; de la Fuente A; Park Y; Shin KC; Kim CA; da Cruz AD; Pinto IP; Minasi LB; Silva da Cruz A; Faivre L; Callier P; Racine C; Layman LC; Kong IK; Kim CH; Kim WY; Kim HG
    Front Mol Neurosci; 2022; 15():979061. PubMed ID: 36277487
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
    Gillentine MA; Wang T; Hoekzema K; Rosenfeld J; Liu P; Guo H; Kim CN; De Vries BBA; Vissers LELM; Nordenskjold M; Kvarnung M; Lindstrand A; Nordgren A; Gecz J; Iascone M; Cereda A; Scatigno A; Maitz S; Zanni G; Bertini E; Zweier C; Schuhmann S; Wiesener A; Pepper M; Panjwani H; Torti E; Abid F; Anselm I; Srivastava S; Atwal P; Bacino CA; Bhat G; Cobian K; Bird LM; Friedman J; Wright MS; Callewaert B; Petit F; Mathieu S; Afenjar A; Christensen CK; White KM; Elpeleg O; Berger I; Espineli EJ; Fagerberg C; Brasch-Andersen C; Hansen LK; Feyma T; Hughes S; Thiffault I; Sullivan B; Yan S; Keller K; Keren B; Mignot C; Kooy F; Meuwissen M; Basinger A; Kukolich M; Philips M; Ortega L; Drummond-Borg M; Lauridsen M; Sorensen K; Lehman A; ; Lopez-Rangel E; Levy P; Lessel D; Lotze T; Madan-Khetarpal S; Sebastian J; Vento J; Vats D; Benman LM; Mckee S; Mirzaa GM; Muss C; Pappas J; Peeters H; Romano C; Elia M; Galesi O; Simon MEH; van Gassen KLI; Simpson K; Stratton R; Syed S; Thevenon J; Palafoll IV; Vitobello A; Bournez M; Faivre L; Xia K; ; Earl RK; Nowakowski T; Bernier RA; Eichler EE
    Genome Med; 2021 Apr; 13(1):63. PubMed ID: 33874999
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
    Costain G; Walker S; Argiropoulos B; Baribeau DA; Bassett AS; Boot E; Devriendt K; Kellam B; Marshall CR; Prasad A; Serrano MA; Stavropoulos DJ; Twede H; Vermeesch JR; Vorstman JAS; Scherer SW
    J Neurodev Disord; 2019 Feb; 11(1):3. PubMed ID: 30732576
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents.
    Smajlagić D; Lavrichenko K; Berland S; Helgeland Ø; Knudsen GP; Vaudel M; Haavik J; Knappskog PM; Njølstad PR; Houge G; Johansson S
    Eur J Hum Genet; 2021 Jan; 29(1):205-215. PubMed ID: 32778765
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.
    Shin S; Lee J; Kim YG; Ha C; Park JH; Kim JW; Lee J; Jang JH
    Pediatr Neurol; 2023 Dec; 149():44-52. PubMed ID: 37776660
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
    Gao C; Wang X; Mei S; Li D; Duan J; Zhang P; Chen B; Han L; Gao Y; Yang Z; Li B; Yang XA
    Front Genet; 2019; 10():485. PubMed ID: 31178897
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Whole-exome sequencing and digital PCR identified a novel compound heterozygous mutation in the NPHP1 gene in a case of Joubert syndrome and related disorders.
    Koyama S; Sato H; Wada M; Kawanami T; Emi M; Kato T
    BMC Med Genet; 2017 Mar; 18(1):37. PubMed ID: 28347285
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family.
    Yuan H; Wang Q; Liu Y; Yang W; He Y; Gusella JF; Song J; Shen Y
    Am J Med Genet B Neuropsychiatr Genet; 2018 Sep; 177(6):589-595. PubMed ID: 30076746
    [TBL] [Abstract][Full Text] [Related]  

  • 11. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
    Mitani T; Isikay S; Gezdirici A; Gulec EY; Punetha J; Fatih JM; Herman I; Akay G; Du H; Calame DG; Ayaz A; Tos T; Yesil G; Aydin H; Geckinli B; Elcioglu N; Candan S; Sezer O; Erdem HB; Gul D; Demiral E; Elmas M; Yesilbas O; Kilic B; Gungor S; Ceylan AC; Bozdogan S; Ozalp O; Cicek S; Aslan H; Yalcintepe S; Topcu V; Bayram Y; Grochowski CM; Jolly A; Dawood M; Duan R; Jhangiani SN; Doddapaneni H; Hu J; Muzny DM; ; Marafi D; Akdemir ZC; Karaca E; Carvalho CMB; Gibbs RA; Posey JE; Lupski JR; Pehlivan D
    Am J Hum Genet; 2021 Oct; 108(10):1981-2005. PubMed ID: 34582790
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.
    Wang C; Zhou W; Zhang L; Fu L; Shi W; Qing Y; Lu F; Tang J; Gao X; Zhang A; Jia Z; Zhang Y; Zhao X; Zheng B
    BMC Genomics; 2023 Jul; 24(1):422. PubMed ID: 37501076
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding the clinical phenotype and genetic spectrum of PURA-related neurodevelopmental disorders.
    Choi SA; Lee HS; Park TJ; Park S; Ko YJ; Kim SY; Lim BC; Kim KJ; Chae JH
    Brain Dev; 2021 Oct; 43(9):912-918. PubMed ID: 34116881
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort.
    Nassir N; Sati I; Al Shaibani S; Ahmed A; Almidani O; Akter H; Woodbury-Smith M; Tayoun AA; Uddin M; Albanna A
    Neurogenetics; 2022 Apr; 23(2):137-149. PubMed ID: 35325322
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.
    Wayhelova M; Vallova V; Broz P; Mikulasova A; Smetana J; Dynkova Filkova H; Machackova D; Handzusova K; Gaillyova R; Kuglik P
    Orphanet J Rare Dis; 2024 Feb; 19(1):41. PubMed ID: 38321498
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
    Afridi TUK; Fatima A; Satti HS; Akram Z; Yousafzai IK; Naeem WB; Fatima N; Ali A; Iqbal Z; Khan A; Shahzad M; Liu C; Toft M; Zhang F; Tariq M; Davis EE; Khan TN
    Mol Genet Genomics; 2024 May; 299(1):55. PubMed ID: 38771357
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Whole exome sequencing analysis and prenatal diagnosis in children with neurodevelopmental disorders].
    Qin YY; Yao YY; Liu N; Wang B; Liu LJ; Li H; Gao TXZ; Xu RH; Wang XY; Song JP
    Zhonghua Yu Fang Yi Xue Za Zhi; 2023 May; 57(5):753-759. PubMed ID: 37165823
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Familial 5.29 Mb deletion in chromosome Xq22.1-q22.3 with a normal phenotype: a rare pedigree and literature review.
    Xu HH; Zhang Y; He ZH; Di XH; Pan FY; Shi WW
    BMC Med Genomics; 2023 May; 16(1):111. PubMed ID: 37217926
    [TBL] [Abstract][Full Text] [Related]  

  • 19. NeuroCNVscore: a tissue-specific framework to prioritise the pathogenicity of CNVs in neurodevelopmental disorders.
    Liu X; Xu W; Leng F; Zhang P; Guo R; Zhang Y; Hao C; Ni X; Li W
    BMJ Paediatr Open; 2023 Jul; 7(1):. PubMed ID: 37407247
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders.
    Chenlo SA; Gallego X; Durham L; Cáceres M; Guney E; Pérez-Cano L
    HGG Adv; 2024 Jun; ():100316. PubMed ID: 38850022
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.