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 *

270 related articles for article (PubMed ID: 30563709)

  • 1. The Role of De Novo Noncoding Regulatory Mutations in Neurodevelopmental Disorders.
    Turner TN; Eichler EE
    Trends Neurosci; 2019 Feb; 42(2):115-127. PubMed ID: 30563709
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
    Padhi EM; Hayeck TJ; Cheng Z; Chatterjee S; Mannion BJ; Byrska-Bishop M; Willems M; Pinson L; Redon S; Benech C; Uguen K; Audebert-Bellanger S; Le Marechal C; Férec C; Efthymiou S; Rahman F; Maqbool S; Maroofian R; Houlden H; Musunuri R; Narzisi G; Abhyankar A; Hunter RD; Akiyama J; Fries LE; Ng JK; Mehinovic E; Stong N; Allen AS; Dickel DE; Bernier RA; Gorkin DU; Pennacchio LA; Zody MC; Turner TN
    Hum Genomics; 2021 Jul; 15(1):44. PubMed ID: 34256850
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk.
    McKenna B; Koomar T; Vervier K; Kremsreiter J; Michaelson JJ
    Cold Spring Harb Mol Case Stud; 2018 Dec; 4(6):. PubMed ID: 30559312
    [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. Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.
    Wilfert AB; Sulovari A; Turner TN; Coe BP; Eichler EE
    Genome Med; 2017 Nov; 9(1):101. PubMed ID: 29179772
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
    Turner TN; Hormozdiari F; Duyzend MH; McClymont SA; Hook PW; Iossifov I; Raja A; Baker C; Hoekzema K; Stessman HA; Zody MC; Nelson BJ; Huddleston J; Sandstrom R; Smith JD; Hanna D; Swanson JM; Faustman EM; Bamshad MJ; Stamatoyannopoulos J; Nickerson DA; McCallion AS; Darnell R; Eichler EE
    Am J Hum Genet; 2016 Jan; 98(1):58-74. PubMed ID: 26749308
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De novo mutations in regulatory elements in neurodevelopmental disorders.
    Short PJ; McRae JF; Gallone G; Sifrim A; Won H; Geschwind DH; Wright CF; Firth HV; FitzPatrick DR; Barrett JC; Hurles ME
    Nature; 2018 Mar; 555(7698):611-616. PubMed ID: 29562236
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Next-gen sequencing identifies non-coding variation disrupting miRNA-binding sites in neurological disorders.
    Devanna P; Chen XS; Ho J; Gajewski D; Smith SD; Gialluisi A; Francks C; Fisher SE; Newbury DF; Vernes SC
    Mol Psychiatry; 2018 May; 23(5):1375-1384. PubMed ID: 28289279
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies.
    Liu Y; Liang Y; Cicek AE; Li Z; Li J; Muhle RA; Krenzer M; Mei Y; Wang Y; Knoblauch N; Morrison J; Zhao S; Jiang Y; Geller E; Ionita-Laza I; Wu J; Xia K; Noonan JP; Sun ZS; He X
    Am J Hum Genet; 2018 Jun; 102(6):1031-1047. PubMed ID: 29754769
    [TBL] [Abstract][Full Text] [Related]  

  • 10. De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
    Brunet T; Jech R; Brugger M; Kovacs R; Alhaddad B; Leszinski G; Riedhammer KM; Westphal DS; Mahle I; Mayerhanser K; Skorvanek M; Weber S; Graf E; Berutti R; Necpál J; Havránková P; Pavelekova P; Hempel M; Kotzaeridou U; Hoffmann GF; Leiz S; Makowski C; Roser T; Schroeder SA; Steinfeld R; Strobl-Wildemann G; Hoefele J; Borggraefe I; Distelmaier F; Strom TM; Winkelmann J; Meitinger T; Zech M; Wagner M
    Clin Genet; 2021 Jul; 100(1):14-28. PubMed ID: 33619735
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Interpreting the impact of noncoding structural variation in neurodevelopmental disorders.
    D'haene E; Vergult S
    Genet Med; 2021 Jan; 23(1):34-46. PubMed ID: 32973355
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders.
    Nguyen HT; Bryois J; Kim A; Dobbyn A; Huckins LM; Munoz-Manchado AB; Ruderfer DM; Genovese G; Fromer M; Xu X; Pinto D; Linnarsson S; Verhage M; Smit AB; Hjerling-Leffler J; Buxbaum JD; Hultman C; Sklar P; Purcell SM; Lage K; He X; Sullivan PF; Stahl EA
    Genome Med; 2017 Dec; 9(1):114. PubMed ID: 29262854
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes.
    Wang T; Zhang Y; Liu L; Wang Y; Chen H; Fan T; Li J; Xia K; Sun Z
    J Genet Genomics; 2021 Apr; 48(4):312-323. PubMed ID: 33994118
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De novo mutation of cancer-related genes associates with particular neurodevelopmental disorders.
    Li B; Li K; Tian D; Zhou Q; Xie Y; Fang Z; Wang X; Luo T; Wang Z; Zhang Y; Wang Y; Chen Q; Meng Q; Zhao G; Li J
    J Mol Med (Berl); 2020 Dec; 98(12):1701-1712. PubMed ID: 33047154
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Understanding Neurodevelopmental Disorders: The Promise of Regulatory Variation in the 3'UTRome.
    Wanke KA; Devanna P; Vernes SC
    Biol Psychiatry; 2018 Apr; 83(7):548-557. PubMed ID: 29289333
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Prediction of Neurodevelopmental Disorders Based on De Novo Coding Variation.
    Chow JC; Hormozdiari F
    J Autism Dev Disord; 2023 Mar; 53(3):963-976. PubMed ID: 35596027
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De novo variants in neurodevelopmental disorders with epilepsy.
    Heyne HO; Singh T; Stamberger H; Abou Jamra R; Caglayan H; Craiu D; De Jonghe P; Guerrini R; Helbig KL; Koeleman BPC; Kosmicki JA; Linnankivi T; May P; Muhle H; Møller RS; Neubauer BA; Palotie A; Pendziwiat M; Striano P; Tang S; Wu S; ; Poduri A; Weber YG; Weckhuysen S; Sisodiya SM; Daly MJ; Helbig I; Lal D; Lemke JR
    Nat Genet; 2018 Jul; 50(7):1048-1053. PubMed ID: 29942082
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
    Álvarez-Mora MI; Sánchez A; Rodríguez-Revenga L; Corominas J; Rabionet R; Puig S; Madrigal I
    Orphanet J Rare Dis; 2022 Feb; 17(1):60. PubMed ID: 35183220
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Development and disease in a dish: the epigenetics of neurodevelopmental disorders.
    Lewis EM; Kroll KL
    Epigenomics; 2018 Feb; 10(2):219-231. PubMed ID: 29334242
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.