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 *

491 related articles for article (PubMed ID: 30952489)

  • 21. Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.
    Dastan J; Chijiwa C; Tang F; Martell S; Qiao Y; Rajcan-Separovic E; Lewis MES
    BMC Med Genet; 2016 Nov; 17(1):78. PubMed ID: 27832746
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Genomic diagnosis for children with intellectual disability and/or developmental delay.
    Bowling KM; Thompson ML; Amaral MD; Finnila CR; Hiatt SM; Engel KL; Cochran JN; Brothers KB; East KM; Gray DE; Kelley WV; Lamb NE; Lose EJ; Rich CA; Simmons S; Whittle JS; Weaver BT; Nesmith AS; Myers RM; Barsh GS; Bebin EM; Cooper GM
    Genome Med; 2017 May; 9(1):43. PubMed ID: 28554332
    [TBL] [Abstract][Full Text] [Related]  

  • 23. De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
    Yates TM; Vasudevan PC; Chandler KE; Donnelly DE; Stark Z; Sadedin S; Willoughby J; ; ; Balasubramanian M
    Am J Med Genet A; 2017 Nov; 173(11):3003-3012. PubMed ID: 28944577
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Identification of genetic causes in children with unexplained epilepsy based on trio-whole exome sequencing.
    Chengyan L; Chupeng X; You W; Yinhui C; Binglong H; Dang A; Ling L; Chuan T
    Clin Genet; 2024 Aug; 106(2):140-149. PubMed ID: 38468460
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.
    Lecoquierre F; Duffourd Y; Vitobello A; Bruel AL; Urteaga B; Coubes C; Garret P; Nambot S; Chevarin M; Jouan T; Moutton S; ; Tran-Mau-Them F; Philippe C; Sorlin A; Faivre L; Thauvin-Robinet C
    Genet Med; 2019 Nov; 21(11):2504-2511. PubMed ID: 31036916
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
    Khan K; Zech M; Morgan AT; Amor DJ; Skorvanek M; Khan TN; Hildebrand MS; Jackson VE; Scerri TS; Coleman M; Rigbye KA; Scheffer IE; Bahlo M; Wagner M; Lam DD; Berutti R; Havránková P; Fečíková A; Strom TM; Han V; Dosekova P; Gdovinova Z; Laccone F; Jameel M; Mooney MR; Baig SM; Jech R; Davis EE; Katsanis N; Winkelmann J
    Genet Med; 2019 Nov; 21(11):2532-2542. PubMed ID: 31036918
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
    Al-Nabhani M; Al-Rashdi S; Al-Murshedi F; Al-Kindi A; Al-Thihli K; Al-Saegh A; Al-Futaisi A; Al-Mamari W; Zadjali F; Al-Maawali A
    Clin Genet; 2018 Dec; 94(6):495-501. PubMed ID: 30125339
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Deletion of
    Singh R; Cohen ASA; Poulton C; Hjortshøj TD; Akahira-Azuma M; Mendiratta G; Khan WA; Azmanov DN; Woodward KJ; Kirchhoff M; Shi L; Edelmann L; Baynam G; Scott SA; Jabs EW
    Cold Spring Harb Mol Case Stud; 2021 Jun; 7(3):. PubMed ID: 34117072
    [TBL] [Abstract][Full Text] [Related]  

  • 33. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
    Berko ER; Cho MT; Eng C; Shao Y; Sweetser DA; Waxler J; Robin NH; Brewer F; Donkervoort S; Mohassel P; Bönnemann CG; Bialer M; Moore C; Wolfe LA; Tifft CJ; Shen Y; Retterer K; Millan F; Chung WK
    J Med Genet; 2017 Feb; 54(2):84-86. PubMed ID: 27389779
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
    Thevenon J; Duffourd Y; Masurel-Paulet A; Lefebvre M; Feillet F; El Chehadeh-Djebbar S; St-Onge J; Steinmetz A; Huet F; Chouchane M; Darmency-Stamboul V; Callier P; Thauvin-Robinet C; Faivre L; Rivière JB
    Clin Genet; 2016 Jun; 89(6):700-7. PubMed ID: 26757139
    [TBL] [Abstract][Full Text] [Related]  

  • 35. ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review.
    Kamal N; Khamirani HJ; Mohammadi S; Dastgheib SA; Dianatpour M; Tabei SMB
    Eur J Med Genet; 2022 Jul; 65(7):104522. PubMed ID: 35618198
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
    Dong X; Liu B; Yang L; Wang H; Wu B; Liu R; Chen H; Chen X; Yu S; Chen B; Wang S; Xu X; Zhou W; Lu Y
    J Med Genet; 2020 Aug; 57(8):558-566. PubMed ID: 32005694
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Clinical and genetic analysis of six Chinese children with Poirier-Bienvenu neurodevelopmental syndrome caused by CSNK2B mutation.
    Yang S; Wu L; Liao H; Lu X; Zhang X; Kuang X; Yang L
    Neurogenetics; 2021 Oct; 22(4):323-332. PubMed ID: 34370157
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.
    Chérot E; Keren B; Dubourg C; Carré W; Fradin M; Lavillaureix A; Afenjar A; Burglen L; Whalen S; Charles P; Marey I; Heide S; Jacquette A; Heron D; Doummar D; Rodriguez D; Billette de Villemeur T; Moutard ML; Guët A; Xavier J; Périsse D; Cohen D; Demurger F; Quélin C; Depienne C; Odent S; Nava C; David V; Pasquier L; Mignot C
    Clin Genet; 2018 Mar; 93(3):567-576. PubMed ID: 28708303
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    Hubert L; Cannata Serio M; Villoing-Gaudé L; Boddaert N; Kaminska A; Rio M; Lyonnet S; Munnich A; Poirier K; Simons M; Besmond C
    J Med Genet; 2020 Feb; 57(2):138-144. PubMed ID: 31439720
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 25.