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 *

241 related articles for article (PubMed ID: 37501076)

  • 41. Biallelic variants in
    Dentici ML; Alesi V; Quinodoz M; Robens B; Guerin A; Lebon S; Poduri A; Travaglini L; Graziola F; Afenjar A; Keren B; Licursi V; Capuano A; Dallapiccola B; Superti-Furga A; Novelli A
    J Med Genet; 2022 Mar; 59(3):262-269. PubMed ID: 33397746
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
    Srivastava S; Love-Nichols JA; Dies KA; Ledbetter DH; Martin CL; Chung WK; Firth HV; Frazier T; Hansen RL; Prock L; Brunner H; Hoang N; Scherer SW; Sahin M; Miller DT;
    Genet Med; 2019 Nov; 21(11):2413-2421. PubMed ID: 31182824
    [TBL] [Abstract][Full Text] [Related]  

  • 43. 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]  

  • 44. 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]  

  • 45. Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.
    Riquin K; Isidor B; Mercier S; Nizon M; Colin E; Bonneau D; Pasquier L; Odent S; Le Guillou Horn XM; Le Guyader G; Toutain A; Meyer V; Deleuze JF; Pichon O; Doco-Fenzy M; Bézieau S; Cogné B
    J Med Genet; 2023 Dec; 61(1):47-56. PubMed ID: 37495270
    [TBL] [Abstract][Full Text] [Related]  

  • 46. A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.
    Gonzalez-Mantilla AJ; Moreno-De-Luca A; Ledbetter DH; Martin CL
    JAMA Psychiatry; 2016 Mar; 73(3):275-83. PubMed ID: 26817790
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders.
    Dingemans AJM; Hinne M; Jansen S; van Reeuwijk J; de Leeuw N; Pfundt R; van Bon BW; Vulto-van Silfhout AT; Kleefstra T; Koolen DA; van Gerven MAJ; Vissers LELM; de Vries BBA
    Genet Med; 2022 Mar; 24(3):645-653. PubMed ID: 34906484
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Exome sequencing in four families with neurodevelopmental disorders: genotype-phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN.
    Afridi TUK; Fatima A; Satti HS; Akram Z; Yousafzai IK; Naeem WB; Fatima N; Ali A; Iqbal Z; Khan A; Shahzad M; Liu C; Toft M; Zhang F; Tariq M; Davis EE; Khan TN
    Mol Genet Genomics; 2024 May; 299(1):55. PubMed ID: 38771357
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families.
    Ilyas M; Efthymiou S; Salpietro V; Noureen N; Zafar F; Rauf S; Mir A; Houlden H
    BMC Med Genet; 2020 Mar; 21(1):59. PubMed ID: 32209057
    [TBL] [Abstract][Full Text] [Related]  

  • 50. The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
    McDonell LM; Warman Chardon J; Schwartzentruber J; Foster D; Beaulieu CL; ; Majewski J; Bulman DE; Boycott KM
    BMC Neurol; 2014 Jan; 14():22. PubMed ID: 24479948
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.
    Moudi M; Vahidi Mehrjardi MY; Hozhabri H; Metanat Z; Kalantar SM; Taheri M; Ghasemi N; Dehghani M
    J Clin Lab Anal; 2022 Feb; 36(2):e24241. PubMed ID: 35019165
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Whole exome sequencing in unexplained recurrent miscarriage families identified novel pathogenic genetic causes of euploid miscarriage.
    Wang X; Shi W; Zhao S; Gong D; Li S; Hu C; Chen ZJ; Li Y; Yan J
    Hum Reprod; 2023 May; 38(5):1003-1018. PubMed ID: 36864708
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Lessons learned from additional research analyses of unsolved clinical exome cases.
    Eldomery MK; Coban-Akdemir Z; Harel T; Rosenfeld JA; Gambin T; Stray-Pedersen A; Küry S; Mercier S; Lessel D; Denecke J; Wiszniewski W; Penney S; Liu P; Bi W; Lalani SR; Schaaf CP; Wangler MF; Bacino CA; Lewis RA; Potocki L; Graham BH; Belmont JW; Scaglia F; Orange JS; Jhangiani SN; Chiang T; Doddapaneni H; Hu J; Muzny DM; Xia F; Beaudet AL; Boerwinkle E; Eng CM; Plon SE; Sutton VR; Gibbs RA; Posey JE; Yang Y; Lupski JR
    Genome Med; 2017 Mar; 9(1):26. PubMed ID: 28327206
    [TBL] [Abstract][Full Text] [Related]  

  • 54. The exploration of genetic aetiology and diagnostic strategy for 321 Chinese individuals with intellectual disability.
    Zhang H; Chen X; Tan H; Teng Y; Liu D; Wu J; Duan R; Liang D; Li Z; Wu L
    Clin Chim Acta; 2023 Jan; 538():94-103. PubMed ID: 36368352
    [TBL] [Abstract][Full Text] [Related]  

  • 55. The diagnostic yield of CGH and WES in neurodevelopmental disorders.
    Alotibi RS; Sannan NS; AlEissa M; Aldriwesh MG; Al Tuwaijri A; Akiel MA; Almutairi M; Alsamer A; Altharawi N; Aljawfan G; Alotiabi B; AlBlawi MA; Alfares A
    Front Pediatr; 2023; 11():1133789. PubMed ID: 36937954
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families.
    Daum H; Ganapathi M; Hirsch Y; Griffin EL; LeDuc CA; Hagen J; Yagel S; Meiner V; Chung WK; Mor-Shaked H
    Am J Med Genet A; 2022 Jan; 188(1):336-342. PubMed ID: 34585832
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
    Petrovski S; Aggarwal V; Giordano JL; Stosic M; Wou K; Bier L; Spiegel E; Brennan K; Stong N; Jobanputra V; Ren Z; Zhu X; Mebane C; Nahum O; Wang Q; Kamalakaran S; Malone C; Anyane-Yeboa K; Miller R; Levy B; Goldstein DB; Wapner RJ
    Lancet; 2019 Feb; 393(10173):758-767. PubMed ID: 30712878
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing.
    Xiang J; Ding Y; Yang F; Gao A; Zhang W; Tang H; Mao J; He Q; Zhang Q; Wang T
    Front Genet; 2021; 12():738561. PubMed ID: 34858471
    [No Abstract]   [Full Text] [Related]  

  • 59. Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
    Bekheirnia MR; Bekheirnia N; Bainbridge MN; Gu S; Coban Akdemir ZH; Gambin T; Janzen NK; Jhangiani SN; Muzny DM; Michael M; Brewer ED; Elenberg E; Kale AS; Riley AA; Swartz SJ; Scott DA; Yang Y; Srivaths PR; Wenderfer SE; Bodurtha J; Applegate CD; Velinov M; Myers A; Borovik L; Craigen WJ; Hanchard NA; Rosenfeld JA; Lewis RA; Gonzales ET; Gibbs RA; Belmont JW; Roth DR; Eng C; Braun MC; Lupski JR; Lamb DJ
    Genet Med; 2017 Apr; 19(4):412-420. PubMed ID: 27657687
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Deep phenotyping and whole-exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders.
    Wang Q; Tang X; Yang K; Huo X; Zhang H; Ding K; Liao S
    Mol Genet Genomic Med; 2022 May; 10(5):e1918. PubMed ID: 35266334
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 13.