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 *

389 related articles for article (PubMed ID: 32989326)

  • 1. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
    Jin SC; Lewis SA; Bakhtiari S; Zeng X; Sierant MC; Shetty S; Nordlie SM; Elie A; Corbett MA; Norton BY; van Eyk CL; Haider S; Guida BS; Magee H; Liu J; Pastore S; Vincent JB; Brunstrom-Hernandez J; Papavasileiou A; Fahey MC; Berry JG; Harper K; Zhou C; Zhang J; Li B; Zhao H; Heim J; Webber DL; Frank MSB; Xia L; Xu Y; Zhu D; Zhang B; Sheth AH; Knight JR; Castaldi C; Tikhonova IR; López-Giráldez F; Keren B; Whalen S; Buratti J; Doummar D; Cho M; Retterer K; Millan F; Wang Y; Waugh JL; Rodan L; Cohen JS; Fatemi A; Lin AE; Phillips JP; Feyma T; MacLennan SC; Vaughan S; Crompton KE; Reid SM; Reddihough DS; Shang Q; Gao C; Novak I; Badawi N; Wilson YA; McIntyre SJ; Mane SM; Wang X; Amor DJ; Zarnescu DC; Lu Q; Xing Q; Zhu C; Bilguvar K; Padilla-Lopez S; Lifton RP; Gecz J; MacLennan AH; Kruer MC
    Nat Genet; 2020 Oct; 52(10):1046-1056. PubMed ID: 32989326
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Variant recurrence confirms the existence of a FBXO31-related spastic-dystonic cerebral palsy syndrome.
    Dzinovic I; Škorvánek M; Pavelekova P; Zhao C; Keren B; Whalen S; Bakhtiari S; Chih Jin S; Kruer MC; Jech R; Winkelmann J; Zech M
    Ann Clin Transl Neurol; 2021 Apr; 8(4):951-955. PubMed ID: 33675180
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The RhoB p.S73F mutation leads to cerebral palsy through dysregulation of lipid homeostasis.
    Wu X; Liu R; Zhang Z; Yang J; Liu X; Jiang L; Fang M; Wang S; Lai L; Song Y; Li Z
    EMBO Mol Med; 2024 Sep; 16(9):2002-2023. PubMed ID: 39080495
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.
    McMichael G; Bainbridge MN; Haan E; Corbett M; Gardner A; Thompson S; van Bon BW; van Eyk CL; Broadbent J; Reynolds C; O'Callaghan ME; Nguyen LS; Adelson DL; Russo R; Jhangiani S; Doddapaneni H; Muzny DM; Gibbs RA; Gecz J; MacLennan AH
    Mol Psychiatry; 2015 Feb; 20(2):176-82. PubMed ID: 25666757
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in γ adducin are associated with inherited cerebral palsy.
    Kruer MC; Jepperson T; Dutta S; Steiner RD; Cottenie E; Sanford L; Merkens M; Russman BS; Blasco PA; Fan G; Pollock J; Green S; Woltjer RL; Mooney C; Kretzschmar D; Paisán-Ruiz C; Houlden H
    Ann Neurol; 2013 Dec; 74(6):805-14. PubMed ID: 23836506
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies.
    Friedman JM; van Essen P; van Karnebeek CDM
    Mol Genet Metab; 2022 Dec; 137(4):399-419. PubMed ID: 34872807
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
    Moreno-De-Luca A; Millan F; Pesacreta DR; Elloumi HZ; Oetjens MT; Teigen C; Wain KE; Scuffins J; Myers SM; Torene RI; Gainullin VG; Arvai K; Kirchner HL; Ledbetter DH; Retterer K; Martin CL
    JAMA; 2021 Feb; 325(5):467-475. PubMed ID: 33528536
    [TBL] [Abstract][Full Text] [Related]  

  • 8. De novo point mutations in patients diagnosed with ataxic cerebral palsy.
    Parolin Schnekenberg R; Perkins EM; Miller JW; Davies WI; D'Adamo MC; Pessia M; Fawcett KA; Sims D; Gillard E; Hudspith K; Skehel P; Williams J; O'Regan M; Jayawant S; Jefferson R; Hughes S; Lustenberger A; Ragoussis J; Jackson M; Tucker SJ; Németh AH
    Brain; 2015 Jul; 138(Pt 7):1817-32. PubMed ID: 25981959
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Whole-exome DNA sequencing in childhood anxiety disorders identifies rare de novo damaging coding variants.
    Olfson E; Lebowitz ER; Hommel G; Pashankar N; Silverman WK; Fernandez TV
    Depress Anxiety; 2022 Jun; 39(6):474-484. PubMed ID: 35312124
    [TBL] [Abstract][Full Text] [Related]  

  • 10. De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.
    Timberlake AT; Furey CG; Choi J; Nelson-Williams C; ; Loring E; Galm A; Kahle KT; Steinbacher DM; Larysz D; Persing JA; Lifton RP
    Proc Natl Acad Sci U S A; 2017 Aug; 114(35):E7341-E7347. PubMed ID: 28808027
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Monogenic variants in dystonia: an exome-wide sequencing study.
    Zech M; Jech R; Boesch S; Škorvánek M; Weber S; Wagner M; Zhao C; Jochim A; Necpál J; Dincer Y; Vill K; Distelmaier F; Stoklosa M; Krenn M; Grunwald S; Bock-Bierbaum T; Fečíková A; Havránková P; Roth J; Příhodová I; Adamovičová M; Ulmanová O; Bechyně K; Danhofer P; Veselý B; Haň V; Pavelekova P; Gdovinová Z; Mantel T; Meindl T; Sitzberger A; Schröder S; Blaschek A; Roser T; Bonfert MV; Haberlandt E; Plecko B; Leineweber B; Berweck S; Herberhold T; Langguth B; Švantnerová J; Minár M; Ramos-Rivera GA; Wojcik MH; Pajusalu S; Õunap K; Schatz UA; Pölsler L; Milenkovic I; Laccone F; Pilshofer V; Colombo R; Patzer S; Iuso A; Vera J; Troncoso M; Fang F; Prokisch H; Wilbert F; Eckenweiler M; Graf E; Westphal DS; Riedhammer KM; Brunet T; Alhaddad B; Berutti R; Strom TM; Hecht M; Baumann M; Wolf M; Telegrafi A; Person RE; Zamora FM; Henderson LB; Weise D; Musacchio T; Volkmann J; Szuto A; Becker J; Cremer K; Sycha T; Zimprich F; Kraus V; Makowski C; Gonzalez-Alegre P; Bardakjian TM; Ozelius LJ; Vetro A; Guerrini R; Maier E; Borggraefe I; Kuster A; Wortmann SB; Hackenberg A; Steinfeld R; Assmann B; Staufner C; Opladen T; Růžička E; Cohn RD; Dyment D; Chung WK; Engels H; Ceballos-Baumann A; Ploski R; Daumke O; Haslinger B; Mall V; Oexle K; Winkelmann J
    Lancet Neurol; 2020 Nov; 19(11):908-918. PubMed ID: 33098801
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of pathways and genes associated with cerebral palsy.
    Zhu Q; Ni Y; Wang J; Yin H; Zhang Q; Zhang L; Bian W; Liang B; Kong L; Xuan L; Lu N
    Genes Genomics; 2018 Dec; 40(12):1339-1349. PubMed ID: 30109564
    [TBL] [Abstract][Full Text] [Related]  

  • 13. De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.
    Cappi C; Oliphant ME; Péter Z; Zai G; Conceição do Rosário M; Sullivan CAW; Gupta AR; Hoffman EJ; Virdee M; Olfson E; Abdallah SB; Willsey AJ; Shavitt RG; Miguel EC; Kennedy JL; Richter MA; Fernandez TV
    Biol Psychiatry; 2020 Jun; 87(12):1035-1044. PubMed ID: 31771860
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.
    Fehlings DL; Zarrei M; Engchuan W; Sondheimer N; Thiruvahindrapuram B; MacDonald JR; Higginbotham EJ; Thapa R; Behlim T; Aimola S; Switzer L; Ng P; Wei J; Danthi PS; Pellecchia G; Lamoureux S; Ho K; Pereira SL; de Rijke J; Sung WWL; Mowjoodi A; Howe JL; Nalpathamkalam T; Manshaei R; Ghaffari S; Whitney J; Patel RV; Hamdan O; Shaath R; Trost B; Knights S; Samdup D; McCormick A; Hunt C; Kirton A; Kawamura A; Mesterman R; Gorter JW; Dlamini N; Merico D; Hilali M; Hirschfeld K; Grover K; Bautista NX; Han K; Marshall CR; Yuen RKC; Subbarao P; Azad MB; Turvey SE; Mandhane P; Moraes TJ; Simons E; Maxwell G; Shevell M; Costain G; Michaud JL; Hamdan FF; Gauthier J; Uguen K; Stavropoulos DJ; Wintle RF; Oskoui M; Scherer SW
    Nat Genet; 2024 Apr; 56(4):585-594. PubMed ID: 38553553
    [TBL] [Abstract][Full Text] [Related]  

  • 15. De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
    Gregor A; Sadleir LG; Asadollahi R; Azzarello-Burri S; Battaglia A; Ousager LB; Boonsawat P; Bruel AL; Buchert R; Calpena E; Cogné B; Dallapiccola B; Distelmaier F; Elmslie F; Faivre L; Haack TB; Harrison V; Henderson A; Hunt D; Isidor B; Joset P; Kumada S; Lachmeijer AMA; Lees M; Lynch SA; Martinez F; Matsumoto N; McDougall C; Mefford HC; Miyake N; Myers CT; Moutton S; Nesbitt A; Novelli A; Orellana C; Rauch A; Rosello M; Saida K; Santani AB; Sarkar A; Scheffer IE; Shinawi M; Steindl K; Symonds JD; Zackai EH; ; ; Reis A; Sticht H; Zweier C
    Am J Hum Genet; 2018 Aug; 103(2):305-316. PubMed ID: 30057029
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autism Spectrum Disorder.
    Kim N; Kim KH; Lim WJ; Kim J; Kim SA; Yoo HJ
    Genes (Basel); 2020 Dec; 12(1):. PubMed ID: 33374967
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.
    Pitsava G; Feldkamp ML; Pankratz N; Lane J; Kay DM; Conway KM; Shaw GM; Reefhuis J; Jenkins MM; Almli LM; Olshan AF; Pangilinan F; Brody LC; Sicko RJ; Hobbs CA; Bamshad M; McGoldrick D; Nickerson DA; Finnell RH; Mullikin J; Romitti PA; Mills JL;
    Am J Med Genet A; 2021 Oct; 185(10):3028-3041. PubMed ID: 34355505
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Advances in genetic research of cerebral palsy].
    Wang FF; Luo R; Qu Y; Mu DZ
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Sep; 19(9):1022-1026. PubMed ID: 28899476
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations.
    Pugh TJ; Weeraratne SD; Archer TC; Pomeranz Krummel DA; Auclair D; Bochicchio J; Carneiro MO; Carter SL; Cibulskis K; Erlich RL; Greulich H; Lawrence MS; Lennon NJ; McKenna A; Meldrim J; Ramos AH; Ross MG; Russ C; Shefler E; Sivachenko A; Sogoloff B; Stojanov P; Tamayo P; Mesirov JP; Amani V; Teider N; Sengupta S; Francois JP; Northcott PA; Taylor MD; Yu F; Crabtree GR; Kautzman AG; Gabriel SB; Getz G; Jäger N; Jones DT; Lichter P; Pfister SM; Roberts TM; Meyerson M; Pomeroy SL; Cho YJ
    Nature; 2012 Aug; 488(7409):106-10. PubMed ID: 22820256
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
    Yechieli M; Gulsuner S; Ben-Pazi H; Fattal A; Aran A; Kuzminsky A; Sagi L; Guttman D; Schneebaum Sender N; Gross-Tsur V; Klopstock T; Walsh T; Renbaum P; Zeligson S; Shemer Meiri L; Lev D; Shmueli D; Blumkin L; Lahad A; King MC; Levy EL; Segel R
    J Med Genet; 2022 Aug; 59(8):759-767. PubMed ID: 34321325
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.