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 *

164 related articles for article (PubMed ID: 29930340)

  • 1. Rare structural variants in the DOCK8 gene identified in a cohort of 439 patients with neurodevelopmental disorders.
    Krgovic D; Kokalj Vokac N; Zagorac A; Gregoric Kumperscak H
    Sci Rep; 2018 Jun; 8(1):9449. PubMed ID: 29930340
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders.
    Glessner JT; Li J; Wang D; March M; Lima L; Desai A; Hadley D; Kao C; Gur RE; Cohen N; Sleiman PMA; Li Q; Hakonarson H;
    Genome Med; 2017 Nov; 9(1):106. PubMed ID: 29191242
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.
    Maini I; Ivanovski I; Djuric O; Caraffi SG; Errichiello E; Marinelli M; Franchi F; Bizzarri V; Rosato S; Pollazzon M; Gelmini C; Malacarne M; Fusco C; Gargano G; Bernasconi S; Zuffardi O; Garavelli L
    Ital J Pediatr; 2018 Mar; 44(1):34. PubMed ID: 29523172
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. MLPA is a practical and complementary alternative to CMA for diagnostic testing in patients with autism spectrum disorders and identifying new candidate CNVs associated with autism.
    Capkova P; Srovnal J; Capkova Z; Staffova K; Becvarova V; Trkova M; Adamova K; Santava A; Curtisova V; Hajduch M; Prochazka M
    PeerJ; 2019; 6():e6183. PubMed ID: 30647996
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical Characterization of Copy Number Variants Associated With Neurodevelopmental Disorders in a Large-scale Multiancestry Biobank.
    Birnbaum R; Mahjani B; Loos RJF; Sharp AJ
    JAMA Psychiatry; 2022 Mar; 79(3):250-259. PubMed ID: 35080590
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development.
    Safizadeh Shabestari SA; Nassir N; Sopariwala S; Karimov I; Tambi R; Zehra B; Kosaji N; Akter H; Berdiev BK; Uddin M
    Hum Genet; 2023 Aug; 142(8):1201-1213. PubMed ID: 36383254
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Recurrent reciprocal copy number variants: Roles and rules in neurodevelopmental disorders.
    Deshpande A; Weiss LA
    Dev Neurobiol; 2018 May; 78(5):519-530. PubMed ID: 29575775
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.
    Huguet G; Schramm C; Douard E; Jiang L; Labbe A; Tihy F; Mathonnet G; Nizard S; Lemyre E; Mathieu A; Poline JB; Loth E; Toro R; Schumann G; Conrod P; Pausova Z; Greenwood C; Paus T; Bourgeron T; Jacquemont S;
    JAMA Psychiatry; 2018 May; 75(5):447-457. PubMed ID: 29562078
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders.
    Azidane S; Gallego X; Durham L; Cáceres M; Guney E; Pérez-Cano L
    HGG Adv; 2024 Jul; 5(3):100316. PubMed ID: 38850022
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Prenatal detection of terminal 9p24.3 microduplication encompassing DOCK8 gene: A variant of likely benign.
    Yue F; Yu Y; Zhang X; Jiang Y; Li L; Liu R; Zhang H
    Medicine (Baltimore); 2021 Jan; 100(3):e23967. PubMed ID: 33545980
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.
    Hamanaka K; Miyake N; Mizuguchi T; Miyatake S; Uchiyama Y; Tsuchida N; Sekiguchi F; Mitsuhashi S; Tsurusaki Y; Nakashima M; Saitsu H; Yamada K; Sakamoto M; Fukuda H; Ohori S; Saida K; Itai T; Azuma Y; Koshimizu E; Fujita A; Erturk B; Hiraki Y; Ch'ng GS; Kato M; Okamoto N; Takata A; Matsumoto N
    Genome Med; 2022 Apr; 14(1):40. PubMed ID: 35468861
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Rare CNVs in Suicide Attempt include Schizophrenia-Associated Loci and Neurodevelopmental Genes: A Pilot Genome-Wide and Family-Based Study.
    Sokolowski M; Wasserman J; Wasserman D
    PLoS One; 2016; 11(12):e0168531. PubMed ID: 28030616
    [TBL] [Abstract][Full Text] [Related]  

  • 20. How does genetic variation modify ND-CNV phenotypes?
    Dinneen TJ; Ghrálaigh FN; Walsh R; Lopez LM; Gallagher L
    Trends Genet; 2022 Feb; 38(2):140-151. PubMed ID: 34364706
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.