BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 38479391)

  • 21. De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
    Reis LM; Sorokina EA; Thompson S; Muheisen S; Velinov M; Zamora C; Aylsworth AS; Semina EV
    Am J Hum Genet; 2019 Aug; 105(2):425-433. PubMed ID: 31327510
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
    Steinfeld H; Cho MT; Retterer K; Person R; Schaefer GB; Danylchuk N; Malik S; Wechsler SB; Wheeler PG; van Gassen KL; Terhal PA; Verhoeven VJ; van Slegtenhorst MA; Monaghan KG; Henderson LB; Chung WK
    Neurogenetics; 2016 Jul; 17(3):159-64. PubMed ID: 27003583
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
    Ansar M; Chung HL; Al-Otaibi A; Elagabani MN; Ravenscroft TA; Paracha SA; Scholz R; Abdel Magid T; Sarwar MT; Shah SF; Qaisar AA; Makrythanasis P; Marcogliese PC; Kamsteeg EJ; Falconnet E; Ranza E; Santoni FA; Aldhalaan H; Al-Asmari A; Faqeih EA; Ahmed J; Kornau HC; Bellen HJ; Antonarakis SE
    Am J Hum Genet; 2019 Nov; 105(5):907-920. PubMed ID: 31607425
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
    Chao HT; Davids M; Burke E; Pappas JG; Rosenfeld JA; McCarty AJ; Davis T; Wolfe L; Toro C; Tifft C; Xia F; Stong N; Johnson TK; Warr CG; ; Yamamoto S; Adams DR; Markello TC; Gahl WA; Bellen HJ; Wangler MF; Malicdan MCV
    Am J Hum Genet; 2017 Jan; 100(1):128-137. PubMed ID: 28017372
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. Human
    Wei AD; Wakenight P; Zwingman TA; Bard AM; Sahai N; Willemsen MH; Schelhaas HJ; Stegmann APA; Verhoeven JS; de Man SA; Wessels MW; Kleefstra T; Shinde DN; Helbig KL; Basinger A; Wagner VF; Rodriguez-Buritica D; Bryant E; Millichap JJ; Millen KJ; Dobyns WB; Ramirez JM; Kalume FK
    J Neurophysiol; 2022 Jul; 128(1):40-61. PubMed ID: 35583973
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities.
    Ben-Mahmoud A; Al-Shamsi AM; Ali BR; Al-Gazali L
    J Mol Neurosci; 2020 Mar; 70(3):320-327. PubMed ID: 31721002
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
    Bogaert E; Garde A; Gautier T; Rooney K; Duffourd Y; LeBlanc P; van Reempts E; Tran Mau-Them F; Wentzensen IM; Au KS; Richardson K; Northrup H; Gatinois V; Geneviève D; Louie RJ; Lyons MJ; Laulund LW; Brasch-Andersen C; Maxel Juul T; El It F; Marle N; Callier P; Relator R; Haghshenas S; McConkey H; Kerkhof J; Cesario C; Novelli A; Brunetti-Pierri N; Pinelli M; Pennamen P; Naudion S; Legendre M; Courdier C; Trimouille A; Fenzy MD; Pais L; Yeung A; Nugent K; Roeder ER; Mitani T; Posey JE; Calame D; Yonath H; Rosenfeld JA; Musante L; Faletra F; Montanari F; Sartor G; Vancini A; Seri M; Besmond C; Poirier K; Hubert L; Hemelsoet D; Munnich A; Lupski JR; Philippe C; Thauvin-Robinet C; Faivre L; Sadikovic B; Govin J; Dermaut B; Vitobello A
    Am J Hum Genet; 2023 May; 110(5):790-808. PubMed ID: 37071997
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
    Bassani S; Chrast J; Ambrosini G; Voisin N; Schütz F; Brusco A; Sirchia F; Turban L; Schubert S; Abou Jamra R; Schlump JU; DeMille D; Bayrak-Toydemir P; Nelson GR; Wong KN; Duncan L; Mosera M; Gilissen C; Vissers LELM; Pfundt R; Kersseboom R; Yttervik H; Hansen GÅM; Smeland MF; Butler KM; Lyons MJ; Carvalho CMB; Zhang C; Lupski JR; Potocki L; Flores-Gallegos L; Morales-Toquero R; Petit F; Yalcin B; Tuttle A; Elloumi HZ; McCormick L; Kukolich M; Klaas O; Horvath J; Scala M; Iacomino M; Operto F; Zara F; Writzl K; Maver A; Haanpää MK; Pohjola P; Arikka H; Kievit AJA; Calandrini C; Iseli C; Guex N; Reymond A
    Genome Med; 2024 May; 16(1):72. PubMed ID: 38811945
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences.
    Lebrun N; Mehler-Jacob C; Poirier K; Zordan C; Lacombe D; Carion N; Billuart P; Bienvenu T
    Gene; 2018 Dec; 679():305-313. PubMed ID: 30217758
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Expanding the phenotypic spectrum consequent upon de novo WDR37 missense variants.
    Hay E; Henderson RH; Mansour S; Deshpande C; Jones R; Nutan S; Mankad K; Young RM; Moosajee M; Research Consortium GE; Arno G
    Clin Genet; 2020 Aug; 98(2):191-197. PubMed ID: 32530092
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.
    Yan H; Shi Z; Wu Y; Xiao J; Gu Q; Yang Y; Li M; Gao K; Chen Y; Yang X; Ji H; Cao B; Duan R; Jiang Y; Wang J
    BMC Med Genet; 2019 May; 20(1):80. PubMed ID: 31088393
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
    Cuinat S; Nizon M; Isidor B; Stegmann A; van Jaarsveld RH; van Gassen KL; van der Smagt JJ; Volker-Touw CML; Holwerda SJB; Terhal PA; Schuhmann S; Vasileiou G; Khalifa M; Nugud AA; Yasaei H; Ousager LB; Brasch-Andersen C; Deb W; Besnard T; Simon MEH; Amsterdam KH; Verbeek NE; Matalon D; Dykzeul N; White S; Spiteri E; Devriendt K; Boogaerts A; Willemsen M; Brunner HG; Sinnema M; De Vries BBA; Gerkes EH; Pfundt R; Izumi K; Krantz ID; Xu ZL; Murrell JR; Valenzuela I; Cusco I; Rovira-Moreno E; Yang Y; Bizaoui V; Patat O; Faivre L; Tran-Mau-Them F; Vitobello A; Denommé-Pichon AS; Philippe C; Bezieau S; Cogné B
    Genet Med; 2022 Aug; 24(8):1774-1780. PubMed ID: 35567594
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
    Kummeling J; Stremmelaar DE; Raun N; Reijnders MRF; Willemsen MH; Ruiterkamp-Versteeg M; Schepens M; Man CCO; Gilissen C; Cho MT; McWalter K; Sinnema M; Wheless JW; Simon MEH; Genetti CA; Casey AM; Terhal PA; van der Smagt JJ; van Gassen KLI; Joset P; Bahr A; Steindl K; Rauch A; Keller E; Raas-Rothschild A; Koolen DA; Agrawal PB; Hoffman TL; Powell-Hamilton NN; Thiffault I; Engleman K; Zhou D; Bodamer O; Hoefele J; Riedhammer KM; Schwaibold EMC; Tasic V; Schubert D; Top D; Pfundt R; Higgs MR; Kramer JM; Kleefstra T
    Mol Psychiatry; 2021 Jun; 26(6):2013-2024. PubMed ID: 32346159
    [TBL] [Abstract][Full Text] [Related]  

  • 38. De novo missense variants in
    Malhotra A; Ziegler A; Shu L; Perrier R; Amlie-Wolf L; Wohler E; Lygia de Macena Sobreira N; Colin E; Vanderver A; Sherbini O; Stouffs K; Scalais E; Serretti A; Barth M; Navet B; Rollier P; Xi H; Wang H; Zhang H; Perry DL; Ferrarini A; Colombo R; Pepler A; Schneider A; Tomiwa K; Okamoto N; Matsumoto N; Miyake N; Taft R; Mao X; Bonneau D
    J Med Genet; 2021 Oct; 58(10):712-716. PubMed ID: 32820033
    [TBL] [Abstract][Full Text] [Related]  

  • 39. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
    Barish S; Barakat TS; Michel BC; Mashtalir N; Phillips JB; Valencia AM; Ugur B; Wegner J; Scott TM; Bostwick B; ; Murdock DR; Dai H; Perenthaler E; Nikoncuk A; van Slegtenhorst M; Brooks AS; Keren B; Nava C; Mignot C; Douglas J; Rodan L; Nowak C; Ellard S; Stals K; Lynch SA; Faoucher M; Lesca G; Edery P; Engleman KL; Zhou D; Thiffault I; Herriges J; Gass J; Louie RJ; Stolerman E; Washington C; Vetrini F; Otsubo A; Pratt VM; Conboy E; Treat K; Shannon N; Camacho J; Wakeling E; Yuan B; Chen CA; Rosenfeld JA; Westerfield M; Wangler M; Yamamoto S; Kadoch C; Scott DA; Bellen HJ
    Am J Hum Genet; 2020 Dec; 107(6):1096-1112. PubMed ID: 33232675
    [TBL] [Abstract][Full Text] [Related]  

  • 40. De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
    Nabais Sá MJ; Jensik PJ; McGee SR; Parker MJ; Lahiri N; McNeil EP; Kroes HY; Hagerman RJ; Harrison RE; Montgomery T; Splitt M; Palmer EE; Sachdev RK; Mefford HC; Scott AA; Martinez-Agosto JA; Lorenz R; Orenstein N; Berg JN; Amiel J; Heron D; Keren B; Cobben JM; Menke LA; Marco EJ; Graham JM; Pierson TM; Karimiani EG; Maroofian R; Manzini MC; Cauley ES; Colombo R; Odent S; Dubourg C; Phornphutkul C; de Brouwer APM; de Vries BBA; Vulto-vanSilfhout AT
    Genet Med; 2019 Sep; 21(9):2059-2069. PubMed ID: 30923367
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.