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 *

161 related articles for article (PubMed ID: 20421931)

  • 21. Analysis of common genetic variation and rare CNVs in the Australian Autism Biobank.
    Yap CX; Alvares GA; Henders AK; Lin T; Wallace L; Farrelly A; McLaren T; Berry J; Vinkhuyzen AAE; Trzaskowski M; Zeng J; Yang Y; Cleary D; Grove R; Hafekost C; Harun A; Holdsworth H; Jellett R; Khan F; Lawson L; Leslie J; Levis Frenk M; Masi A; Mathew NE; Muniandy M; Nothard M; Visscher PM; Dawson PA; Dissanayake C; Eapen V; Heussler HS; Whitehouse AJO; Wray NR; Gratten J
    Mol Autism; 2021 Feb; 12(1):12. PubMed ID: 33568206
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.
    Jensen M; Kooy RF; Simon TJ; Reyniers E; Girirajan S; Tassone F
    Eur J Med Genet; 2018 Apr; 61(4):209-212. PubMed ID: 29191496
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia.
    Lowther C; Merico D; Costain G; Waserman J; Boyd K; Noor A; Speevak M; Stavropoulos DJ; Wei J; Lionel AC; Marshall CR; Scherer SW; Bassett AS
    Genome Med; 2017 Nov; 9(1):105. PubMed ID: 29187259
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Inter- and intra-breed genome-wide copy number diversity in a large cohort of European equine breeds.
    Solé M; Ablondi M; Binzer-Panchal A; Velie BD; Hollfelder N; Buys N; Ducro BJ; François L; Janssens S; Schurink A; Viklund Å; Eriksson S; Isaksson A; Kultima H; Mikko S; Lindgren G
    BMC Genomics; 2019 Oct; 20(1):759. PubMed ID: 31640551
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
    Shoukier M; Klein N; Auber B; Wickert J; Schröder J; Zoll B; Burfeind P; Bartels I; Alsat EA; Lingen M; Grzmil P; Schulze S; Keyser J; Weise D; Borchers M; Hobbiebrunken E; Röbl M; Gärtner J; Brockmann K; Zirn B
    Clin Genet; 2013 Jan; 83(1):53-65. PubMed ID: 22283495
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A novel copy number variants kernel association test with application to autism spectrum disorders studies.
    Zhan X; Girirajan S; Zhao N; Wu MC; Ghosh D
    Bioinformatics; 2016 Dec; 32(23):3603-3610. PubMed ID: 27497442
    [TBL] [Abstract][Full Text] [Related]  

  • 27. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
    Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid BM; Bjerin O; Gustavsson P; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
    Genome Med; 2019 Nov; 11(1):68. PubMed ID: 31694722
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Genome-Wide Array Analysis Reveals Novel Genomic Regions and Candidate Gene for Intellectual Disability.
    Chen X; Li H; Chen C; Zhou L; Xu X; Xiang Y; Tang S
    Mol Diagn Ther; 2018 Dec; 22(6):749-757. PubMed ID: 30259421
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Genomic imbalances defining novel intellectual disability associated loci.
    Lopes F; Torres F; Soares G; Barbosa M; Silva J; Duque F; Rocha M; Sá J; Oliveira G; Sá MJ; Temudo T; Sousa S; Marques C; Lopes S; Gomes C; Barros G; Jorge A; Rocha F; Martins C; Mesquita S; Loureiro S; Cardoso EM; Cálix MJ; Dias A; Martins C; Mota CR; Antunes D; Dupont J; Figueiredo S; Figueiroa S; Gama-de-Sousa S; Cruz S; Sampaio A; Eijk P; Weiss MM; Ylstra B; Rendeiro P; Tavares P; Reis-Lima M; Pinto-Basto J; Fortuna AM; Maciel P
    Orphanet J Rare Dis; 2019 Jul; 14(1):164. PubMed ID: 31277718
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Tissue-Specific eQTL in Zebrafish.
    Dobrinski KP
    Methods Mol Biol; 2020; 2082():239-249. PubMed ID: 31849020
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Genome-wide copy number variation (CNV) detection in Nelore cattle reveals highly frequent variants in genome regions harboring QTLs affecting production traits.
    da Silva JM; Giachetto PF; da Silva LO; Cintra LC; Paiva SR; Yamagishi ME; Caetano AR
    BMC Genomics; 2016 Jun; 17():454. PubMed ID: 27297173
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research.
    Hochstenbach R; Buizer-Voskamp JE; Vorstman JA; Ophoff RA
    Cytogenet Genome Res; 2011; 135(3-4):174-202. PubMed ID: 22056632
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Implications of germline copy-number variations in psychiatric disorders: review of large-scale genetic studies.
    Nakatochi M; Kushima I; Ozaki N
    J Hum Genet; 2021 Jan; 66(1):25-37. PubMed ID: 32958875
    [TBL] [Abstract][Full Text] [Related]  

  • 35. The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
    Loviglio MN; Arbogast T; Jønch AE; Collins SC; Popadin K; Bonnet CS; Giannuzzi G; Maillard AM; Jacquemont S; ; Yalcin B; Katsanis N; Golzio C; Reymond A
    Am J Hum Genet; 2017 Oct; 101(4):564-577. PubMed ID: 28965845
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A Link between Genetic Disorders and Cellular Impairment, Using Human Induced Pluripotent Stem Cells to Reveal the Functional Consequences of Copy Number Variations in the Central Nervous System-A Close Look at Chromosome 15.
    Casamassa A; Ferrari D; Gelati M; Carella M; Vescovi AL; Rosati J
    Int J Mol Sci; 2020 Mar; 21(5):. PubMed ID: 32182809
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.
    Iyer J; Girirajan S
    Brief Funct Genomics; 2015 Sep; 14(5):315-28. PubMed ID: 25971441
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival.
    Kim DS; Kim JH; Burt AA; Crosslin DR; Burnham N; Kim CE; McDonald-McGinn DM; Zackai EH; Nicolson SC; Spray TL; Stanaway IB; Nickerson DA; Heagerty PJ; Hakonarson H; Gaynor JW; Jarvik GP
    J Thorac Cardiovasc Surg; 2016 Apr; 151(4):1147-51.e4. PubMed ID: 26704054
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Concordance rate between copy number variants detected using either high- or medium-density single nucleotide polymorphism genotype panels and the potential of imputing copy number variants from flanking high density single nucleotide polymorphism haplotypes in cattle.
    Rafter P; Gormley IC; Parnell AC; Kearney JF; Berry DP
    BMC Genomics; 2020 Mar; 21(1):205. PubMed ID: 32131735
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.
    Trost B; Walker S; Wang Z; Thiruvahindrapuram B; MacDonald JR; Sung WWL; Pereira SL; Whitney J; Chan AJS; Pellecchia G; Reuter MS; Lok S; Yuen RKC; Marshall CR; Merico D; Scherer SW
    Am J Hum Genet; 2018 Jan; 102(1):142-155. PubMed ID: 29304372
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.