BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

622 related articles for article (PubMed ID: 34530748)

  • 1. 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]  

  • 2. Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature.
    Carmignac V; Nambot S; Lehalle D; Callier P; Moortgat S; Benoit V; Ghoumid J; Delobel B; Smol T; Thuillier C; Zordan C; Naudion S; Bienvenu T; Touraine R; Ramond F; Zweier C; Reis A; Kraus C; Nizon M; Cogné B; Verloes A; Tran Mau-Them F; Sorlin A; Jouan T; Duffourd Y; Tisserant E; Philippe C; Vitobello A; Thevenon J; Faivre L; Thauvin-Robinet C
    Clin Genet; 2020 Jul; 98(1):43-55. PubMed ID: 32279304
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features.
    Douglas G; Cho MT; Telegrafi A; Winter S; Carmichael J; Zackai EH; Deardorff MA; Harr M; Williams L; Psychogios A; Erwin AL; Grebe T; Retterer K; Juusola J
    Am J Med Genet A; 2018 Sep; 176(9):1845-1851. PubMed ID: 30055086
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel
    Kaiwar C; Zimmermann MT; Ferber MJ; Niu Z; Urrutia RA; Klee EW; Babovic-Vuksanovic D
    Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 28963436
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism.
    Diets IJ; van der Donk R; Baltrunaite K; Waanders E; Reijnders MRF; Dingemans AJM; Pfundt R; Vulto-van Silfhout AT; Wiel L; Gilissen C; Thevenon J; Perrin L; Afenjar A; Nava C; Keren B; Bartz S; Peri B; Beunders G; Verbeek N; van Gassen K; Thiffault I; Cadieux-Dion M; Huerta-Saenz L; Wagner M; Konstantopoulou V; Vodopiutz J; Griese M; Boel A; Callewaert B; Brunner HG; Kleefstra T; Hoogerbrugge N; de Vries BBA; Hwa V; Dauber A; Hehir-Kwa JY; Kuiper RP; Jongmans MCJ
    Am J Hum Genet; 2019 Apr; 104(4):758-766. PubMed ID: 30929739
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.
    Leonardi E; Aspromonte MC; Drongitis D; Bettella E; Verrillo L; Polli R; McEntagart M; Licchetta L; Dilena R; D'Arrigo S; Ciaccio C; Esposito S; Leuzzi V; Torella A; Baldo D; Lonardo F; Bonato G; Pellegrin S; Stanzial F; Posmyk R; Kaczorowska E; Carecchio M; Gos M; Rzońca-Niewczas S; Miano MG; Murgia A
    Eur J Hum Genet; 2023 Feb; 31(2):202-215. PubMed ID: 36434256
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Exome reports A de novo GNB2 variant associated with global developmental delay, intellectual disability, and dysmorphic features.
    Fukuda T; Hiraide T; Yamoto K; Nakashima M; Kawai T; Yanagi K; Ogata T; Saitsu H
    Eur J Med Genet; 2020 Apr; 63(4):103804. PubMed ID: 31698099
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Genotype-phenotype correlation: Inheritance and variant-type infer pathogenicity in IQSEC2 gene.
    Barrie ES; Cottrell CE; Gastier-Foster J; Hickey SE; Patel AD; Santoro SL; Alfaro MP
    Eur J Med Genet; 2020 Mar; 63(3):103735. PubMed ID: 31415821
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Inherited and de novo variants extend the etiology of
    Hunter JM; Massingham LJ; Manickam K; Bartholomew D; Williamson RK; Schwab JL; Marhabaie M; Siemon A; de Los Reyes E; Reshmi SC; Cottrell CE; Wilson RK; Koboldt DC
    Cold Spring Harb Mol Case Stud; 2022 Feb; 8(2):. PubMed ID: 35091509
    [TBL] [Abstract][Full Text] [Related]  

  • 17. De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
    Tokita MJ; Chen CA; Chitayat D; Macnamara E; Rosenfeld JA; Hanchard N; Lewis AM; Brown CW; Marom R; Shao Y; Novacic D; Wolfe L; Wahl C; Tifft CJ; Toro C; Bernstein JA; Hale CL; Silver J; Hudgins L; Ananth A; Hanson-Kahn A; Shuster S; ; Magoulas PL; Patel VN; Zhu W; Chen SM; Jiang Y; Liu P; Eng CM; Batkovskyte D; di Ronza A; Sardiello M; Lee BH; Schaaf CP; Yang Y; Wang X
    Am J Hum Genet; 2018 Jul; 103(1):154-162. PubMed ID: 29961569
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability.
    Zhu W; Li J; Chen S; Zhang J; Vetrini F; Braxton A; Eng CM; Yang Y; Xia F; Keller KL; Okinaka-Hu L; Lee C; Holder JL; Bi W
    Am J Med Genet A; 2018 Apr; 176(4):973-979. PubMed ID: 29423971
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
    Zhao A; Zhou R; Gu Q; Liu M; Zhang B; Huang J; Yang B; Yao R; Wang J; Lv H; Wang J; Shen Y; Wang H; Chen X
    Clin Chim Acta; 2021 Dec; 523():10-18. PubMed ID: 34478686
    [TBL] [Abstract][Full Text] [Related]  

  • 20. De novo
    Webster E; Cho MT; Alexander N; Desai S; Naidu S; Bekheirnia MR; Lewis A; Retterer K; Juusola J; Chung WK
    Cold Spring Harb Mol Case Stud; 2016 Nov; 2(6):a001172. PubMed ID: 27900362
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 32.