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 *

265 related articles for article (PubMed ID: 29790871)

  • 21. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
    Zhu X; Petrovski S; Xie P; Ruzzo EK; Lu YF; McSweeney KM; Ben-Zeev B; Nissenkorn A; Anikster Y; Oz-Levi D; Dhindsa RS; Hitomi Y; Schoch K; Spillmann RC; Heimer G; Marek-Yagel D; Tzadok M; Han Y; Worley G; Goldstein J; Jiang YH; Lancet D; Pras E; Shashi V; McHale D; Need AC; Goldstein DB
    Genet Med; 2015 Oct; 17(10):774-81. PubMed ID: 25590979
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.
    Okano T; Imai K; Naruto T; Okada S; Yamashita M; Yeh TW; Ono S; Tanaka K; Okamoto K; Tanita K; Matsumoto K; Toyofuku E; Kumaki-Matsumoto E; Okamura M; Ueno H; Ogawa S; Ohara O; Takagi M; Kanegane H; Morio T
    J Clin Immunol; 2020 Jul; 40(5):729-740. PubMed ID: 32506361
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes.
    Darvish H; Azcona LJ; Tafakhori A; Mesias R; Ahmadifard A; Sanchez E; Habibi A; Alehabib E; Johari AH; Emamalizadeh B; Jamali F; Chapi M; Jamshidi J; Kajiwara Y; Paisán-Ruiz C
    Sci Rep; 2020 Jan; 10(1):968. PubMed ID: 31969655
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants.
    Middelkamp S; Vlaar JM; Giltay J; Korzelius J; Besselink N; Boymans S; Janssen R; de la Fonteijne L; van Binsbergen E; van Roosmalen MJ; Hochstenbach R; Giachino D; Talkowski ME; Kloosterman WP; Cuppen E
    Genome Med; 2019 Dec; 11(1):79. PubMed ID: 31801603
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Utilizing Whole-Exome Sequencing to Characterize the Phenotypic Variability of Sickle Cell Disease.
    Alsultan A; Al-Suliman AM; Aleem A; AlGahtani FH; Alfadhel M
    Genet Test Mol Biomarkers; 2018 Sep; 22(9):561-567. PubMed ID: 30183354
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.
    Chen Y; Zhang Q; Shen T; Xiao X; Li S; Guan L; Zhang J; Zhu Z; Yin Y; Wang P; Guo X; Wang J; Zhang Q
    Invest Ophthalmol Vis Sci; 2013 Jun; 54(6):4351-7. PubMed ID: 23661368
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Three rare disease diagnoses in one patient through exome sequencing.
    Ferrer A; Schultz-Rogers L; Kaiwar C; Kemppainen JL; Klee EW; Gavrilova RH
    Cold Spring Harb Mol Case Stud; 2019 Dec; 5(6):. PubMed ID: 31427378
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities.
    Kim SH; Kim B; Lee JS; Kim HD; Choi JR; Lee ST; Kang HC
    Pediatr Neurol; 2019 Oct; 99():47-54. PubMed ID: 30952489
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.
    Mrosk J; Bhavani GS; Shah H; Hecht J; Krüger U; Shukla A; Kornak U; Girisha KM
    Bone; 2018 May; 110():368-377. PubMed ID: 29499418
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.
    Charng WL; Karaca E; Coban Akdemir Z; Gambin T; Atik MM; Gu S; Posey JE; Jhangiani SN; Muzny DM; Doddapaneni H; Hu J; Boerwinkle E; Gibbs RA; Rosenfeld JA; Cui H; Xia F; Manickam K; Yang Y; Faqeih EA; Al Asmari A; Saleh MA; El-Hattab AW; Lupski JR
    BMC Med Genomics; 2016 Jul; 9(1):42. PubMed ID: 27435318
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A suite of automated sequence analyses reduces the number of candidate deleterious variants and reveals a difference between probands and unaffected siblings.
    Gu F; Wu A; Gordon MG; Vlahos L; Macnamara S; Burke E; Malicdan MC; Adams DR; Tifft CJ; Toro C; Gahl WA; Markello TC
    Genet Med; 2019 Aug; 21(8):1772-1780. PubMed ID: 30700791
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Monogenic and polygenic determinants of sarcoma risk: an international genetic study.
    Ballinger ML; Goode DL; Ray-Coquard I; James PA; Mitchell G; Niedermayr E; Puri A; Schiffman JD; Dite GS; Cipponi A; Maki RG; Brohl AS; Myklebost O; Stratford EW; Lorenz S; Ahn SM; Ahn JH; Kim JE; Shanley S; Beshay V; Randall RL; Judson I; Seddon B; Campbell IG; Young MA; Sarin R; Blay JY; O'Donoghue SI; Thomas DM;
    Lancet Oncol; 2016 Sep; 17(9):1261-71. PubMed ID: 27498913
    [TBL] [Abstract][Full Text] [Related]  

  • 33. An exome sequencing strategy to diagnose lethal autosomal recessive disorders.
    Ellard S; Kivuva E; Turnpenny P; Stals K; Johnson M; Xie W; Caswell R; Lango Allen H
    Eur J Hum Genet; 2015 Mar; 23(3):401-4. PubMed ID: 24961629
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Molecular findings among patients referred for clinical whole-exome sequencing.
    Yang Y; Muzny DM; Xia F; Niu Z; Person R; Ding Y; Ward P; Braxton A; Wang M; Buhay C; Veeraraghavan N; Hawes A; Chiang T; Leduc M; Beuten J; Zhang J; He W; Scull J; Willis A; Landsverk M; Craigen WJ; Bekheirnia MR; Stray-Pedersen A; Liu P; Wen S; Alcaraz W; Cui H; Walkiewicz M; Reid J; Bainbridge M; Patel A; Boerwinkle E; Beaudet AL; Lupski JR; Plon SE; Gibbs RA; Eng CM
    JAMA; 2014 Nov; 312(18):1870-9. PubMed ID: 25326635
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.
    Liu J; Zheng Y; Huang J; Zhu D; Zang P; Luo Z; Yang Y; Peng Y; Xiao Z; Zhu Y; Lu X
    Hum Mutat; 2021 Nov; 42(11):1443-1460. PubMed ID: 34298581
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
    Yuan B; Neira J; Pehlivan D; Santiago-Sim T; Song X; Rosenfeld J; Posey JE; Patel V; Jin W; Adam MP; Baple EL; Dean J; Fong CT; Hickey SE; Hudgins L; Leon E; Madan-Khetarpal S; Rawlins L; Rustad CF; Stray-Pedersen A; Tveten K; Wenger O; Diaz J; Jenkins L; Martin L; McGuire M; Pietryga M; Ramsdell L; Slattery L; ; Abid F; Bertuch AA; Grange D; Immken L; Schaaf CP; Van Esch H; Bi W; Cheung SW; Breman AM; Smith JL; Shaw C; Crosby AH; Eng C; Yang Y; Lupski JR; Xiao R; Liu P
    Genet Med; 2019 Mar; 21(3):663-675. PubMed ID: 30158690
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.
    Lim EC; Brett M; Lai AH; Lee SP; Tan ES; Jamuar SS; Ng IS; Tan EC
    Hum Genomics; 2015 Dec; 9():33. PubMed ID: 26666243
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.
    Powis Z; Farwell Hagman KD; Speare V; Cain T; Blanco K; Mowlavi LS; Mayerhofer EM; Tilstra D; Vedder T; Hunter JM; Tsang M; Gonzalez L; Vockley G; Tang S
    Genet Med; 2018 Nov; 20(11):1468-1471. PubMed ID: 29565416
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 14.