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 *

138 related articles for article (PubMed ID: 32042908)

  • 1. Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disorders.
    Wassman ER; Ho KS; Bertrand D; Davis KW; Martin MM; Page S; Peiffer A; Prasad A; Serrano MA; Twede H; Vanzo R; Scherer SW; Uddin M; Hensel CH
    Neurol Genet; 2019 Dec; 5(6):e378. PubMed ID: 32042908
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Construction of copy number variation landscape and characterization of associated genes in a Bangladeshi cohort of neurodevelopmental disorders.
    Akter H; Rahman MM; Sarker S; Basiruzzaman M; Islam MM; Rahaman MA; Rahaman MA; Eshaque TB; Dity NJ; Sarker S; Amin MR; Hossain MM; Lopa M; Jahan N; Hossain S; Islam A; Mondol A; Faruk MO; Saha N; Kundu GK; Kanta SI; Kazal RK; Fatema K; Rahman MA; Hasan M; Hossain Mollah MA; Hosen MI; Karuvantevida N; Begum G; Zehra B; Nassir N; Nabi AHMN; Uddin KMF; Uddin M
    Front Genet; 2023; 14():955631. PubMed ID: 36959829
    [No Abstract]   [Full Text] [Related]  

  • 3. Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.
    Hollenbeck D; Williams CL; Drazba K; Descartes M; Korf BR; Rutledge SL; Lose EJ; Robin NH; Carroll AJ; Mikhail FM
    Genet Med; 2017 Apr; 19(4):377-385. PubMed ID: 27632688
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do?
    Rotshenker-Olshinka K; Srebnik Moshe N; Weiss O; Shaviv S; Freireich O; Segel R; Zeligson S; Eldar-Geva T; Altarescu G
    J Assist Reprod Genet; 2021 Mar; 38(3):719-725. PubMed ID: 33443723
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Influence of validating the parental origin on the clinical interpretation of fetal copy number variations in 141 core family cases.
    Shi P; Li R; Wang C; Kong X
    Mol Genet Genomic Med; 2019 Oct; 7(10):e00944. PubMed ID: 31475483
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.
    Magini P; Scarano E; Donati I; Sensi A; Mazzanti L; Perri A; Tamburrino F; Mongelli P; Percesepe A; Visconti P; Parmeggiani A; Seri M; Graziano C
    Gene; 2019 Jul; 706():162-171. PubMed ID: 31085274
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Recurrent benign copy number variants & issues in interpretation of variants of unknown significance identified by cytogenetic microarray in Indian patients with intellectual disability.
    Boggula VR; Agarwal M; Kumar R; Awasthi S; Phadke SR
    Indian J Med Res; 2015 Dec; 142(6):699-712. PubMed ID: 26831419
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.
    Servetti M; Pisciotta L; Tassano E; Cerminara M; Nobili L; Boeri S; Rosti G; Lerone M; Divizia MT; Ronchetto P; Puliti A
    Front Genet; 2021; 12():732002. PubMed ID: 34621295
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Copy number variation (CNV) identification, interpretation, and database from Brazilian patients.
    Godoy VCSM; Bellucco FT; Colovati M; Oliveira-Junior HR; Moysés-Oliveira M; Melaragno MI
    Genet Mol Biol; 2020; 43(4):e20190218. PubMed ID: 33306777
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. ClinTAD: a tool for copy number variant interpretation in the context of topologically associated domains.
    Spector JD; Wiita AP
    J Hum Genet; 2019 May; 64(5):437-443. PubMed ID: 30765865
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay.
    Uddin M; Pellecchia G; Thiruvahindrapuram B; D'Abate L; Merico D; Chan A; Zarrei M; Tammimies K; Walker S; Gazzellone MJ; Nalpathamkalam T; Yuen RK; Devriendt K; Mathonnet G; Lemyre E; Nizard S; Shago M; Joseph-George AM; Noor A; Carter MT; Yoon G; Kannu P; Tihy F; Thorland EC; Marshall CR; Buchanan JA; Speevak M; Stavropoulos DJ; Scherer SW
    Sci Rep; 2016 Jul; 6():28663. PubMed ID: 27363808
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The clinical significance of small copy number variants in neurodevelopmental disorders.
    Asadollahi R; Oneda B; Joset P; Azzarello-Burri S; Bartholdi D; Steindl K; Vincent M; Cobilanschi J; Sticht H; Baldinger R; Reissmann R; Sudholt I; Thiel CT; Ekici AB; Reis A; Bijlsma EK; Andrieux J; Dieux A; FitzPatrick D; Ritter S; Baumer A; Latal B; Plecko B; Jenni OG; Rauch A
    J Med Genet; 2014 Oct; 51(10):677-88. PubMed ID: 25106414
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.
    Kirov G; Pocklington AJ; Holmans P; Ivanov D; Ikeda M; Ruderfer D; Moran J; Chambert K; Toncheva D; Georgieva L; Grozeva D; Fjodorova M; Wollerton R; Rees E; Nikolov I; van de Lagemaat LN; Bayés A; Fernandez E; Olason PI; Böttcher Y; Komiyama NH; Collins MO; Choudhary J; Stefansson K; Stefansson H; Grant SG; Purcell S; Sklar P; O'Donovan MC; Owen MJ
    Mol Psychiatry; 2012 Feb; 17(2):142-53. PubMed ID: 22083728
    [TBL] [Abstract][Full Text] [Related]  

  • 17. CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.
    Repnikova EA; Lyalin DA; McDonald K; Astbury C; Hansen-Kiss E; Cooley LD; Pfau R; Herman GE; Pyatt RE; Hickey SE
    Eur J Med Genet; 2020 Jan; 63(1):103636. PubMed ID: 30836150
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Association of Rare Copy Number Variants With Risk of Depression.
    Kendall KM; Rees E; Bracher-Smith M; Legge S; Riglin L; Zammit S; O'Donovan MC; Owen MJ; Jones I; Kirov G; Walters JTR
    JAMA Psychiatry; 2019 Aug; 76(8):818-825. PubMed ID: 30994872
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance.
    Zhang K; Lin G; Han D; Han Y; Peng R; Li J
    Front Genet; 2022; 13():829728. PubMed ID: 35360839
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.
    Truty R; Paul J; Kennemer M; Lincoln SE; Olivares E; Nussbaum RL; Aradhya S
    Genet Med; 2019 Jan; 21(1):114-123. PubMed ID: 29895855
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.