BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

657 related articles for article (PubMed ID: 32003824)

  • 1. Copy Number Variation and Clinical Outcomes in Patients With Germline PTEN Mutations.
    Yehia L; Seyfi M; Niestroj LM; Padmanabhan R; Ni Y; Frazier TW; Lal D; Eng C
    JAMA Netw Open; 2020 Jan; 3(1):e1920415. PubMed ID: 32003824
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Dynamics and structural stability effects of germline PTEN mutations associated with cancer versus autism phenotypes.
    Smith IN; Thacker S; Jaini R; Eng C
    J Biomol Struct Dyn; 2019 Apr; 37(7):1766-1782. PubMed ID: 29663862
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Longitudinal Analysis of Cancer Risk in Children and Adults With Germline PTEN Variants.
    Yehia L; Plitt G; Tushar AM; Joo J; Burke CA; Campbell SC; Heiden K; Jin J; Macaron C; Michener CM; Pederson HJ; Radhakrishnan K; Shin J; Tamburro J; Patil S; Eng C
    JAMA Netw Open; 2023 Apr; 6(4):e239705. PubMed ID: 37093598
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The mitochondrial genome as a modifier of autism versus cancer phenotypes in
    Wei R; Yehia L; Ni Y; Eng C
    HGG Adv; 2023 Jul; 4(3):100199. PubMed ID: 37216009
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.
    Dhawan A; Baitamouni S; Liu D; Busch R; Klaas P; Frazier TW; Srivastava S; Parikh S; Hsich GE; Friedman NR; Ritter DM; Hardan AY; Martinez-Agosto JA; Sahin M; Eng C
    Ann Clin Transl Neurol; 2024 May; 11(5):1301-1309. PubMed ID: 38501559
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
    Yehia L; Ni Y; Sesock K; Niazi F; Fletcher B; Chen HJL; LaFramboise T; Eng C
    PLoS Genet; 2018 Apr; 14(4):e1007352. PubMed ID: 29684080
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism.
    Frazier TW; Jaini R; Busch RM; Wolf M; Sadler T; Klaas P; Hardan AY; Martinez-Agosto JA; Sahin M; Eng C;
    Mol Autism; 2021 Jan; 12(1):5. PubMed ID: 33509259
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Prevalence and clinical/molecular characteristics of PTEN mutations in Turkish children with autism spectrum disorders and macrocephaly.
    Kaymakcalan H; Kaya İ; Cevher Binici N; Nikerel E; Özbaran B; Görkem Aksoy M; Erbilgin S; Özyurt G; Jahan N; Çelik D; Yararbaş K; Yalçınkaya L; Köse S; Durak S; Ercan-Sencicek AG
    Mol Genet Genomic Med; 2021 Aug; 9(8):e1739. PubMed ID: 34268892
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships.
    Mighell TL; Thacker S; Fombonne E; Eng C; O'Roak BJ
    Am J Hum Genet; 2020 Jun; 106(6):818-829. PubMed ID: 32442409
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Conformational Dynamics and Allosteric Regulation Landscapes of Germline PTEN Mutations Associated with Autism Compared to Those Associated with Cancer.
    Smith IN; Thacker S; Seyfi M; Cheng F; Eng C
    Am J Hum Genet; 2019 May; 104(5):861-878. PubMed ID: 31006514
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
    Wu R; Li X; Meng Z; Li P; He Z; Liang L
    Orphanet J Rare Dis; 2024 May; 19(1):205. PubMed ID: 38764027
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.
    Busa T; Milh M; Degardin N; Girard N; Sigaudy S; Longy M; Olshchwang S; Sobol H; Chabrol B; Philip N
    Eur J Paediatr Neurol; 2015 Mar; 19(2):188-92. PubMed ID: 25549896
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The phenotypic manifestations of rare genic CNVs in autism spectrum disorder.
    Merikangas AK; Segurado R; Heron EA; Anney RJ; Paterson AD; Cook EH; Pinto D; Scherer SW; Szatmari P; Gill M; Corvin AP; Gallagher L
    Mol Psychiatry; 2015 Nov; 20(11):1366-72. PubMed ID: 25421404
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Behavioural and psychological features of PTEN mutations: a systematic review of the literature and meta-analysis of the prevalence of autism spectrum disorder characteristics.
    Cummings K; Watkins A; Jones C; Dias R; Welham A
    J Neurodev Disord; 2022 Jan; 14(1):1. PubMed ID: 34983360
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.
    Chaves TF; Ocampos M; Barbato IT; de Camargo Pinto LL; de Luca GR; Barbato Filho JH; Bernardi P; Costa Netto Muniz Y; Francesca Maris A
    Sci Rep; 2024 Feb; 14(1):3762. PubMed ID: 38355898
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
    Roberts JL; Hovanes K; Dasouki M; Manzardo AM; Butler MG
    Gene; 2014 Feb; 535(1):70-8. PubMed ID: 24188901
    [TBL] [Abstract][Full Text] [Related]  

  • 18. WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition.
    Lee YR; Yehia L; Kishikawa T; Ni Y; Leach B; Zhang J; Panch N; Liu J; Wei W; Eng C; Pandolfi PP
    N Engl J Med; 2020 May; 382(22):2103-2116. PubMed ID: 32459922
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genotype-phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study.
    Chawner SJRA; Owen MJ; Holmans P; Raymond FL; Skuse D; Hall J; van den Bree MBM
    Lancet Psychiatry; 2019 Jun; 6(6):493-505. PubMed ID: 31056457
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Association of copy number variation across the genome with neuropsychiatric traits in the general population.
    Guyatt AL; Stergiakouli E; Martin J; Walters J; O'Donovan M; Owen M; Thapar A; Kirov G; Rodriguez S; Rai D; Zammit S; Gaunt TR
    Am J Med Genet B Neuropsychiatr Genet; 2018 Jul; 177(5):489-502. PubMed ID: 29687944
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 33.