BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

231 related articles for article (PubMed ID: 37092538)

  • 1. De novo variants in CNOT9 cause a neurodevelopmental disorder with or without epilepsy.
    von Wintzingerode L; Ben-Zeev B; Cesario C; Chan KM; Depienne C; Elpeleg O; Iascone M; Kelley WV; Nassogne MC; Niceta M; Pezzani L; Rahner N; Revencu N; Bekheirnia MR; Santiago-Sim T; Tartaglia M; Thompson ML; Trivisano M; Hentschel J; Sticht H; Abou Jamra R; Oppermann H
    Genet Med; 2023 Jul; 25(7):100859. PubMed ID: 37092538
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
    Usmani MA; Ahmed ZM; Magini P; Pienkowski VM; Rasmussen KJ; Hernan R; Rasheed F; Hussain M; Shahzad M; Lanpher BC; Niu Z; Lim FY; Pippucci T; Ploski R; Kraus V; Matuszewska K; Palombo F; Kianmahd J; ; Martinez-Agosto JA; Lee H; Colao E; Motazacker MM; Brigatti KW; Puffenberger EG; Riazuddin SA; Gonzaga-Jauregui C; Chung WK; Wagner M; Schultz MJ; Seri M; Kievit AJA; Perrotti N; Wassink-Ruiter JSK; van Bokhoven H; Riazuddin S; Riazuddin S
    Am J Hum Genet; 2021 Jul; 108(7):1330-1341. PubMed ID: 34102099
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.
    Heide EC; Puk O; Biskup S; Krahn A; Rauf E; Kreilkamp BAK; Paulus W; Focke NK
    Am J Med Genet A; 2021 Dec; 185(12):3838-3843. PubMed ID: 34327820
    [TBL] [Abstract][Full Text] [Related]  

  • 7.
    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]  

  • 8. De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
    Tessarech M; Friocourt G; Marguet F; Lecointre M; Le Mao M; Díaz RM; Mignot C; Keren B; Héron B; De Bie C; Van Gassen K; Loisel D; Delorme B; Syrbe S; Klabunde-Cherwon A; Jamra RA; Wegler M; Callewaert B; Dheedene A; Zidane-Marinnes M; Guichet A; Bris C; Van Bogaert P; Biquard F; Lenaers G; Marcorelles P; Ferec C; Gonzalez B; Procaccio V; Vitobello A; Bonneau D; Laquerriere A; Khiati S; Colin E
    Genet Med; 2024 May; 26(5):101087. PubMed ID: 38288683
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Recurrent
    Tan NB; Pagnamenta AT; Ferla MP; Gadian J; Chung BH; Chan MC; Fung JL; Cook E; Guter S; Boschann F; Heinen A; Schallner J; Mignot C; Keren B; Whalen S; Sarret C; Mittag D; Demmer L; Stapleton R; Saida K; Matsumoto N; Miyake N; Sheffer R; Mor-Shaked H; Barnett CP; Byrne AB; Scott HS; Kraus A; Cappuccio G; Brunetti-Pierri N; Iorio R; Di Dato F; Pais LS; Yeung A; Tan TY; Taylor JC; Christodoulou J; White SM
    J Med Genet; 2022 May; 59(5):511-516. PubMed ID: 34183358
    [TBL] [Abstract][Full Text] [Related]  

  • 10. De novo ARHGEF9 missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum of ARHGEF9 disease in females.
    Scala M; Zonneveld-Huijssoon E; Brienza M; Mecarelli O; van der Hout AH; Zambrelli E; Turner K; Zara F; Peron A; Vignoli A; Striano P
    Neurogenetics; 2021 Mar; 22(1):87-94. PubMed ID: 32939676
    [TBL] [Abstract][Full Text] [Related]  

  • 11. De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
    Singh S; Gupta A; Zech M; Sigafoos AN; Clark KJ; Dincer Y; Wagner M; Humberson JB; Green S; van Gassen K; Brandt T; Schnur RE; Millan F; Si Y; Mall V; Winkelmann J; Gavrilova RH; Klee EW; Engleman K; Safina NP; Slaugh R; Bryant EM; Tan WH; Granadillo J; Misra SN; Schaefer GB; Towner S; Brilstra EH; Koeleman BPC
    Genet Med; 2020 Aug; 22(8):1413-1417. PubMed ID: 32366965
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
    Parenti I; Lehalle D; Nava C; Torti E; Leitão E; Person R; Mizuguchi T; Matsumoto N; Kato M; Nakamura K; de Man SA; Cope H; Shashi V; ; Friedman J; Joset P; Steindl K; Rauch A; Muffels I; van Hasselt PM; Petit F; Smol T; Le Guyader G; Bilan F; Sorlin A; Vitobello A; Philippe C; van de Laar IMBH; van Slegtenhorst MA; Campeau PM; Au PYB; Nakashima M; Saitsu H; Yamamoto T; Nomura Y; Louie RJ; Lyons MJ; Dobson A; Plomp AS; Motazacker MM; Kaiser FJ; Timberlake AT; Fuchs SA; Depienne C; Mignot C
    Hum Genet; 2021 Jul; 140(7):1109-1120. PubMed ID: 33944996
    [TBL] [Abstract][Full Text] [Related]  

  • 13.
    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]  

  • 14. De novo variants in
    Bina R; Matalon D; Fregeau B; Tarsitano JJ; Aukrust I; Houge G; Bend R; Warren H; Stevenson RE; Stuurman KE; Barkovich AJ; Sherr EH
    J Med Genet; 2020 Jul; 57(7):461-465. PubMed ID: 31924697
    [TBL] [Abstract][Full Text] [Related]  

  • 15. HECW2-related disorder in four Japanese patients.
    Yanagishita T; Hirade T; Shimojima Yamamoto K; Funatsuka M; Miyamoto Y; Maeda M; Yanagi K; Kaname T; Nagata S; Nagata M; Ishihara Y; Miyashita Y; Asano Y; Sakata Y; Kosaki K; Yamamoto T
    Am J Med Genet A; 2021 Oct; 185(10):2895-2902. PubMed ID: 34047014
    [TBL] [Abstract][Full Text] [Related]  

  • 16. De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
    Ward SK; Wadley A; Tsai CA; Benke PJ; Emrick L; Fisher K; Houck KM; Dai H; ; Guillen Sacoto MJ; Craigen W; Glaser K; Murdock DR; Rohena L; Diderich KEM; Bruggenwirth HT; Lee B; Bacino C; Burrage LC; Rosenfeld JA
    Am J Med Genet A; 2024 Jan; 194(1):17-30. PubMed ID: 37743782
    [TBL] [Abstract][Full Text] [Related]  

  • 17. De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.
    Vissers LELM; Kalvakuri S; de Boer E; Geuer S; Oud M; van Outersterp I; Kwint M; Witmond M; Kersten S; Polla DL; Weijers D; Begtrup A; McWalter K; Ruiz A; Gabau E; Morton JEV; Griffith C; Weiss K; Gamble C; Bartley J; Vernon HJ; Brunet K; Ruivenkamp C; Kant SG; Kruszka P; Larson A; Afenjar A; Billette de Villemeur T; Nugent K; ; Raymond FL; Venselaar H; Demurger F; Soler-Alfonso C; Li D; Bhoj E; Hayes I; Hamilton NP; Ahmad A; Fisher R; van den Born M; Willems M; Sorlin A; Delanne J; Moutton S; Christophe P; Mau-Them FT; Vitobello A; Goel H; Massingham L; Phornphutkul C; Schwab J; Keren B; Charles P; Vreeburg M; De Simone L; Hoganson G; Iascone M; Milani D; Evenepoel L; Revencu N; Ward DI; Burns K; Krantz I; Raible SE; Murrell JR; Wood K; Cho MT; van Bokhoven H; Muenke M; Kleefstra T; Bodmer R; de Brouwer APM
    Am J Hum Genet; 2020 Jul; 107(1):164-172. PubMed ID: 32553196
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
    Muir AM; Gardner JF; van Jaarsveld RH; de Lange IM; van der Smagt JJ; Wilson GN; Dubbs H; Goldberg EM; Zitano L; Bupp C; Martinez J; Srour M; Accogli A; Alhakeem A; Meltzer M; Gropman A; Brewer C; Caswell RC; Montgomery T; McKenna C; McKee S; Powell C; Vasudevan PC; Brady AF; Joss S; Tysoe C; Noh G; Tarnopolsky M; Brady L; Zafar M; Schrier Vergano SA; Murray B; Sawyer L; Hainline BE; Sapp K; DeMarzo D; Huismann DJ; Wentzensen IM; Schnur RE; Monaghan KG; Juusola J; Rhodes L; Dobyns WB; Lecoquierre F; Goldenberg A; Polster T; Axer-Schaefer S; Platzer K; Klöckner C; Hoffman TL; MacArthur DG; O'Leary MC; VanNoy GE; England E; Varghese VC; Mefford HC
    Genet Med; 2021 May; 23(5):881-887. PubMed ID: 33473207
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
    Shepherdson JL; Hutchison K; Don DW; McGillivray G; Choi TI; Allan CA; Amor DJ; Banka S; Basel DG; Buch LD; Carere DA; Carroll R; Clayton-Smith J; Crawford A; Dunø M; Faivre L; Gilfillan CP; Gold NB; Gripp KW; Hobson E; Holtz AM; Innes AM; Isidor B; Jackson A; Katsonis P; Amel Riazat Kesh L; ; Küry S; Lecoquierre F; Lockhart P; Maraval J; Matsumoto N; McCarrier J; McCarthy J; Miyake N; Moey LH; Németh AH; Østergaard E; Patel R; Pope K; Posey JE; Schnur RE; Shaw M; Stolerman E; Taylor JP; Wadman E; Wakeling E; White SM; Wong LC; Lupski JR; Lichtarge O; Corbett MA; Gecz J; Nicolet CM; Farnham PJ; Kim CH; Shinawi M
    Am J Hum Genet; 2024 Mar; 111(3):487-508. PubMed ID: 38325380
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.