BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

448 related articles for article (PubMed ID: 30879638)

  • 1. Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
    Hiatt SM; Thompson ML; Prokop JW; Lawlor JMJ; Gray DE; Bebin EM; Rinne T; Kempers M; Pfundt R; van Bon BW; Mignot C; Nava C; Depienne C; Kalsner L; Rauch A; Joset P; Bachmann-Gagescu R; Wentzensen IM; McWalter K; Cooper GM
    Am J Hum Genet; 2019 Apr; 104(4):701-708. PubMed ID: 30879638
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pathogenic variants in
    Granadillo JL; P A Stegmann A; Guo H; Xia K; Angle B; Bontempo K; Ranells JD; Newkirk P; Costin C; Viront J; Stumpel CT; Sinnema M; Panis B; Pfundt R; Krapels IPC; Klaassens M; Nicolai J; Li J; Jiang Y; Marco E; Canton A; Latronico AC; Montenegro L; Leheup B; Bonnet C; M Amudhavalli S; Lawson CE; McWalter K; Telegrafi A; Pearson R; Kvarnung M; Wang X; Bi W; Rosenfeld JA; Shinawi M
    J Med Genet; 2020 Oct; 57(10):717-724. PubMed ID: 32152250
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.
    Chilton I; Okur V; Vitiello G; Selicorni A; Mariani M; Goldenberg A; Husson T; Campion D; Lichtenbelt KD; van Gassen K; Steinraths M; Rice J; Roeder ER; Littlejohn RO; Srour M; Sebire G; Accogli A; Héron D; Heide S; Nava C; Depienne C; Larson A; Niyazov D; Azage M; Hoganson G; Burton J; Rush ET; Jenkins JL; Saunders CJ; Thiffault I; Alaimo JT; Fleischer J; Groepper D; Gripp KW; Chung WK
    Am J Med Genet A; 2020 May; 182(5):962-973. PubMed ID: 32031333
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7.
    Roston A; Evans D; Gill H; McKinnon M; Isidor B; Cogné B; Mwenifumbo J; van Karnebeek C; An J; Jones SJM; Farrer M; Demos M; Connolly M; Gibson WT; ;
    J Med Genet; 2021 Mar; 58(3):196-204. PubMed ID: 32546566
    [TBL] [Abstract][Full Text] [Related]  

  • 8. De novo variants in CNOT3 cause a variable neurodevelopmental disorder.
    Martin R; Splitt M; Genevieve D; Aten E; Collins A; de Bie CI; Faivre L; Foulds N; Giltay J; Ibitoye R; Joss S; Kennedy J; Kerr B; Kivuva E; Koopmans M; Newbury-Ecob R; Jean-Marçais N; Peeters EAJ; Smithson S; Tomkins S; Tranmauthem F; Piton A; van Haeringen A
    Eur J Hum Genet; 2019 Nov; 27(11):1677-1682. PubMed ID: 31201375
    [TBL] [Abstract][Full Text] [Related]  

  • 9. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
    Vetrini F; McKee S; Rosenfeld JA; Suri M; Lewis AM; Nugent KM; Roeder E; Littlejohn RO; Holder S; Zhu W; Alaimo JT; Graham B; Harris JM; Gibson JB; Pastore M; McBride KL; Komara M; Al-Gazali L; Al Shamsi A; Fanning EA; Wierenga KJ; Scott DA; Ben-Neriah Z; Meiner V; Cassuto H; Elpeleg O; Holder JL; Burrage LC; Seaver LH; Van Maldergem L; Mahida S; Soul JS; Marlatt M; Matyakhina L; Vogt J; Gold JA; Park SM; Varghese V; Lampe AK; Kumar A; Lees M; Holder-Espinasse M; McConnell V; Bernhard B; Blair E; Harrison V; ; Muzny DM; Gibbs RA; Elsea SH; Posey JE; Bi W; Lalani S; Xia F; Yang Y; Eng CM; Lupski JR; Liu P
    Genome Med; 2019 Feb; 11(1):12. PubMed ID: 30819258
    [TBL] [Abstract][Full Text] [Related]  

  • 10.
    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]  

  • 11. Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
    Harms FL; Girisha KM; Hardigan AA; Kortüm F; Shukla A; Alawi M; Dalal A; Brady L; Tarnopolsky M; Bird LM; Ceulemans S; Bebin M; Bowling KM; Hiatt SM; Lose EJ; Primiano M; Chung WK; Juusola J; Akdemir ZC; Bainbridge M; Charng WL; Drummond-Borg M; Eldomery MK; El-Hattab AW; Saleh MAM; Bézieau S; Cogné B; Isidor B; Küry S; Lupski JR; Myers RM; Cooper GM; Kutsche K
    Am J Hum Genet; 2017 Jan; 100(1):117-127. PubMed ID: 28017373
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.
    Garber A; Weingarten LS; Abreu NJ; Elloumi HZ; Haack T; Hildebrant C; Martínez-Gil N; Mathews J; Müller AJ; Valenzuela Palafoll I; Steigerwald C; Chung WK
    Am J Med Genet A; 2024 Jul; 194(7):e63578. PubMed ID: 38425142
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Whole-genome sequencing in a family with twin boys with autism and intellectual disability suggests multimodal polygenic risk.
    McKenna B; Koomar T; Vervier K; Kremsreiter J; Michaelson JJ
    Cold Spring Harb Mol Case Stud; 2018 Dec; 4(6):. PubMed ID: 30559312
    [TBL] [Abstract][Full Text] [Related]  

  • 15. De novo variants in
    Tanaka AJ; Cho MT; Willaert R; Retterer K; Zarate YA; Bosanko K; Stefans V; Oishi K; Williamson A; Wilson GN; Basinger A; Barbaro-Dieber T; Ortega L; Sorrentino S; Gabriel MK; Anderson IJ; Sacoto MJG; Schnur RE; Chung WK
    Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 29162653
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
    Okur V; Cho MT; Henderson L; Retterer K; Schneider M; Sattler S; Niyazov D; Azage M; Smith S; Picker J; Lincoln S; Tarnopolsky M; Brady L; Bjornsson HT; Applegate C; Dameron A; Willaert R; Baskin B; Juusola J; Chung WK
    Hum Genet; 2016 Jul; 135(7):699-705. PubMed ID: 27048600
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
    Hiraide T; Yamoto K; Masunaga Y; Asahina M; Endoh Y; Ohkubo Y; Matsubayashi T; Tsurui S; Yamada H; Yanagi K; Nakashima M; Hirano K; Sugimura H; Fukuda T; Ogata T; Saitsu H
    Clin Genet; 2021 Jul; 100(1):40-50. PubMed ID: 33644862
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
    Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
    Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 23.