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 *

211 related articles for article (PubMed ID: 39047730)

  • 21. Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.
    Chiu ATG; Pei SLC; Mak CCY; Leung GKC; Yu MHC; Lee SL; Vreeburg M; Pfundt R; van der Burgt I; Kleefstra T; Frederic TM; Nambot S; Faivre L; Bruel AL; Rossi M; Isidor B; Küry S; Cogne B; Besnard T; Willems M; Reijnders MRF; Chung BHY
    Clin Genet; 2018 Apr; 93(4):880-890. PubMed ID: 29240241
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. 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]  

  • 24. 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]  

  • 25. Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.
    Prasad A; Sdano MA; Vanzo RJ; Mowery-Rushton PA; Serrano MA; Hensel CH; Wassman ER
    BMC Med Genet; 2018 Mar; 19(1):46. PubMed ID: 29554876
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.
    Borroto MC; Patel H; Srivastava S; Swanson LC; Keren B; Whalen S; Mignot C; Wang X; Chen Q; Rosenfeld JA; McLean S; Littlejohn RO; ; Emrick L; Burrage LC; Attali R; Lesca G; Acquaviva-Bourdain C; Sarret C; Seaver LH; Platzer K; Bartolomaeus T; Wünsch C; Fischer S; Rodriguez Barreto AM; Granadillo JL; Schreiner E; Brunet T; Schatz UA; Thiffault I; Mullegama SV; Michaud JL; Hamdan FF; Rossignol E; Campeau PM
    Pediatr Neurol; 2024 Nov; 160():45-53. PubMed ID: 39181022
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A Novel Missense Variant in the Gene
    Yan L; Shen R; Cao Z; Han C; Zhang Y; Liu Y; Yang X; Xie M; Li H
    Biomed Res Int; 2021; 2021():6661860. PubMed ID: 33628804
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.
    Nakashima M; Tohyama J; Nakagawa E; Watanabe Y; Siew CG; Kwong CS; Yamoto K; Hiraide T; Fukuda T; Kaname T; Nakabayashi K; Hata K; Ogata T; Saitsu H; Matsumoto N
    J Hum Genet; 2019 Apr; 64(4):313-322. PubMed ID: 30655572
    [TBL] [Abstract][Full Text] [Related]  

  • 31. CRISPR screen identifies the NCOR/HDAC3 complex as a major suppressor of differentiation in rhabdomyosarcoma.
    Phelps MP; Bailey JN; Vleeshouwer-Neumann T; Chen EY
    Proc Natl Acad Sci U S A; 2016 Dec; 113(52):15090-15095. PubMed ID: 27956629
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Phenotypic and genetic analysis of children with unexplained neurodevelopmental delay and neurodevelopmental comorbidities in a Chinese cohort using trio-based whole-exome sequencing.
    Wu R; Li X; Meng Z; Li P; He Z; Liang L
    Orphanet J Rare Dis; 2024 May; 19(1):205. PubMed ID: 38764027
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.
    Sollis E; Graham SA; Vino A; Froehlich H; Vreeburg M; Dimitropoulou D; Gilissen C; Pfundt R; Rappold GA; Brunner HG; Deriziotis P; Fisher SE
    Hum Mol Genet; 2016 Feb; 25(3):546-57. PubMed ID: 26647308
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. 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]  

  • 37. De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder.
    Calpena E; Hervieu A; Kaserer T; Swagemakers SMA; Goos JAC; Popoola O; Ortiz-Ruiz MJ; Barbaro-Dieber T; Bownass L; Brilstra EH; Brimble E; Foulds N; Grebe TA; Harder AVE; Lees MM; Monaghan KG; Newbury-Ecob RA; Ong KR; Osio D; Reynoso Santos FJ; Ruzhnikov MRZ; Telegrafi A; van Binsbergen E; van Dooren MF; ; van der Spek PJ; Blagg J; Twigg SRF; Mathijssen IMJ; Clarke PA; Wilkie AOM
    Am J Hum Genet; 2019 Apr; 104(4):709-720. PubMed ID: 30905399
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel de novo KDM5C variant in a female with global developmental delay and ataxia: a case report.
    Lippa NC; Barua S; Aggarwal V; Pereira E; Bain JM
    BMC Neurol; 2021 Sep; 21(1):358. PubMed ID: 34530748
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 11.