BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

238 related articles for article (PubMed ID: 31616000)

  • 1. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
    Guo H; Bettella E; Marcogliese PC; Zhao R; Andrews JC; Nowakowski TJ; Gillentine MA; Hoekzema K; Wang T; Wu H; Jangam S; Liu C; Ni H; Willemsen MH; van Bon BW; Rinne T; Stevens SJC; Kleefstra T; Brunner HG; Yntema HG; Long M; Zhao W; Hu Z; Colson C; Richard N; Schwartz CE; Romano C; Castiglia L; Bottitta M; Dhar SU; Erwin DJ; Emrick L; Keren B; Afenjar A; Zhu B; Bai B; Stankiewicz P; Herman K; ; Mercimek-Andrews S; Juusola J; Wilfert AB; Abou Jamra R; Büttner B; Mefford HC; Muir AM; Scheffer IE; Regan BM; Malone S; Gecz J; Cobben J; Weiss MM; Waisfisz Q; Bijlsma EK; Hoffer MJV; Ruivenkamp CAL; Sartori S; Xia F; Rosenfeld JA; Bernier RA; Wangler MF; Yamamoto S; Xia K; Stegmann APA; Bellen HJ; Murgia A; Eichler EE
    Nat Commun; 2019 Oct; 10(1):4679. PubMed ID: 31616000
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
    Kim HG; Rosenfeld JA; Scott DA; Bénédicte G; Labonne JD; Brown J; McGuire M; Mahida S; Naidu S; Gutierrez J; Lesca G; des Portes V; Bruel AL; Sorlin A; Xia F; Capri Y; Muller E; McKnight D; Torti E; Rüschendorf F; Hummel O; Islam Z; Kolatkar PR; Layman LC; Ryu D; Kong IK; Madan-Khetarpal S; Kim CH
    Mol Autism; 2019; 10():35. PubMed ID: 31649809
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. A review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment.
    Ousley O; Rockers K; Dell ML; Coleman K; Cubells JF
    Curr Psychiatry Rep; 2007 Apr; 9(2):148-58. PubMed ID: 17389127
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.
    Nixon KCJ; Rousseau J; Stone MH; Sarikahya M; Ehresmann S; Mizuno S; Matsumoto N; Miyake N; ; Baralle D; McKee S; Izumi K; Ritter AL; Heide S; Héron D; Depienne C; Titheradge H; Kramer JM; Campeau PM
    Am J Hum Genet; 2019 Apr; 104(4):596-610. PubMed ID: 30879640
    [TBL] [Abstract][Full Text] [Related]  

  • 6.
    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]  

  • 7. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
    Van Dijck A; Vulto-van Silfhout AT; Cappuyns E; van der Werf IM; Mancini GM; Tzschach A; Bernier R; Gozes I; Eichler EE; Romano C; Lindstrand A; Nordgren A; ; Kvarnung M; Kleefstra T; de Vries BBA; Küry S; Rosenfeld JA; Meuwissen ME; Vandeweyer G; Kooy RF
    Biol Psychiatry; 2019 Feb; 85(4):287-297. PubMed ID: 29724491
    [TBL] [Abstract][Full Text] [Related]  

  • 8. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
    Konrad EDH; Nardini N; Caliebe A; Nagel I; Young D; Horvath G; Santoro SL; Shuss C; Ziegler A; Bonneau D; Kempers M; Pfundt R; Legius E; Bouman A; Stuurman KE; Õunap K; Pajusalu S; Wojcik MH; Vasileiou G; Le Guyader G; Schnelle HM; Berland S; Zonneveld-Huijssoon E; Kersten S; Gupta A; Blackburn PR; Ellingson MS; Ferber MJ; Dhamija R; Klee EW; McEntagart M; Lichtenbelt KD; Kenney A; Vergano SA; Abou Jamra R; Platzer K; Ella Pierpont M; Khattar D; Hopkin RJ; Martin RJ; Jongmans MCJ; Chang VY; Martinez-Agosto JA; Kuismin O; Kurki MI; Pietiläinen O; Palotie A; Maarup TJ; Johnson DS; Venborg Pedersen K; Laulund LW; Lynch SA; Blyth M; Prescott K; Canham N; Ibitoye R; Brilstra EH; Shinawi M; Fassi E; ; Sticht H; Gregor A; Van Esch H; Zweier C
    Genet Med; 2019 Dec; 21(12):2723-2733. PubMed ID: 31239556
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
    Stessman HAF; Willemsen MH; Fenckova M; Penn O; Hoischen A; Xiong B; Wang T; Hoekzema K; Vives L; Vogel I; Brunner HG; van der Burgt I; Ockeloen CW; Schuurs-Hoeijmakers JH; Klein Wassink-Ruiter JS; Stumpel C; Stevens SJC; Vles HS; Marcelis CM; van Bokhoven H; Cantagrel V; Colleaux L; Nicouleau M; Lyonnet S; Bernier RA; Gerdts J; Coe BP; Romano C; Alberti A; Grillo L; Scuderi C; Nordenskjöld M; Kvarnung M; Guo H; Xia K; Piton A; Gerard B; Genevieve D; Delobel B; Lehalle D; Perrin L; Prieur F; Thevenon J; Gecz J; Shaw M; Pfundt R; Keren B; Jacquette A; Schenck A; Eichler EE; Kleefstra T
    Am J Hum Genet; 2016 Mar; 98(3):541-552. PubMed ID: 26942287
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Neurodevelopmental disorders in children with macrocephaly: A prevalence study and PTEN gene analysis.
    Kurata H; Shirai K; Saito Y; Okazaki T; Ohno K; Oguri M; Adachi K; Nanba E; Maegaki Y
    Brain Dev; 2018 Jan; 40(1):36-41. PubMed ID: 28774669
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family.
    Yuan H; Wang Q; Liu Y; Yang W; He Y; Gusella JF; Song J; Shen Y
    Am J Med Genet B Neuropsychiatr Genet; 2018 Sep; 177(6):589-595. PubMed ID: 30076746
    [TBL] [Abstract][Full Text] [Related]  

  • 13.
    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]  

  • 14. De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.
    Fan Y; Yin W; Hu B; Kline AD; Zhang VW; Liang D; Sun Y; Wang L; Tang S; Powis Z; Li L; Yan H; Shi Z; Yang X; Chen Y; Wang J; Jiang Y; Tan H; Gu X; Wu L; Yu Y
    Am J Hum Genet; 2018 Sep; 103(3):448-455. PubMed ID: 30122539
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
    Shinawi M; Liu P; Kang SH; Shen J; Belmont JW; Scott DA; Probst FJ; Craigen WJ; Graham BH; Pursley A; Clark G; Lee J; Proud M; Stocco A; Rodriguez DL; Kozel BA; Sparagana S; Roeder ER; McGrew SG; Kurczynski TW; Allison LJ; Amato S; Savage S; Patel A; Stankiewicz P; Beaudet AL; Cheung SW; Lupski JR
    J Med Genet; 2010 May; 47(5):332-41. PubMed ID: 19914906
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 17q23.3 de novo microdeletion involving only TANC2 gene: A new case.
    Tassano E; Accogli A; Ronchetto P; Tortora D; Tavella E; Gimelli G; Mancardi M; Malacarne M; Coviello DA
    Eur J Med Genet; 2020 Dec; 63(12):104094. PubMed ID: 33160097
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy.
    Fatima A; Hoeber J; Schuster J; Koshimizu E; Maya-Gonzalez C; Keren B; Mignot C; Akram T; Ali Z; Miyatake S; Tanigawa J; Koike T; Kato M; Murakami Y; Abdullah U; Ali MA; Fadoul R; Laan L; Castillejo-López C; Liik M; Jin Z; Birnir B; Matsumoto N; Baig SM; Klar J; Dahl N
    Am J Hum Genet; 2021 Apr; 108(4):739-748. PubMed ID: 33711248
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.
    Van Bergen NJ; Guo Y; Al-Deri N; Lipatova Z; Stanga D; Zhao S; Murtazina R; Gyurkovska V; Pehlivan D; Mitani T; Gezdirici A; Antony J; Collins F; Willis MJH; Coban Akdemir ZH; Liu P; Punetha J; Hunter JV; Jhangiani SN; Fatih JM; Rosenfeld JA; Posey JE; Gibbs RA; Karaca E; Massey S; Ranasinghe TG; Sleiman P; Troedson C; Lupski JR; Sacher M; Segev N; Hakonarson H; Christodoulou J
    Brain; 2020 Jan; 143(1):112-130. PubMed ID: 31794024
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.
    Hiraide T; Nakashima M; Yamoto K; Fukuda T; Kato M; Ikeda H; Sugie Y; Aoto K; Kaname T; Nakabayashi K; Ogata T; Matsumoto N; Saitsu H
    Hum Genet; 2018 Jan; 137(1):95-104. PubMed ID: 29322246
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.