BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

151 related articles for article (PubMed ID: 36593604)

  • 1. Diagnosis and clinical presentation of two individuals with a rare
    Schneeweiss MR; Dale B; Ejaz R
    BMJ Case Rep; 2022 Dec; 15(12):. PubMed ID: 36593604
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
    Schäfgen J; Cremer K; Becker J; Wieland T; Zink AM; Kim S; Windheuser IC; Kreiß M; Aretz S; Strom TM; Wieczorek D; Engels H
    Eur J Hum Genet; 2016 Dec; 24(12):1739-1745. PubMed ID: 27436265
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder.
    Lévy J; Cogan G; Maruani A; Maillard A; Dupont C; Drunat S; Rachid M; Atzori P; Delorme R; Jeyarajah S; Isidor B; Pichon O; Moradkhani K; Verloes A; Tabet AC
    Clin Genet; 2022 Mar; 101(3):364-370. PubMed ID: 34904221
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
    Torti E; Keren B; Palmer EE; Zhu Z; Afenjar A; Anderson IJ; Andrews MV; Atkinson C; Au M; Berry SA; Bowling KM; Boyle J; Buratti J; Cathey SS; Charles P; Cogne B; Courtin T; Escobar LF; Finley SL; Graham JM; Grange DK; Heron D; Hewson S; Hiatt SM; Hibbs KA; Jayakar P; Kalsner L; Larcher L; Lesca G; Mark PR; Miller K; Nava C; Nizon M; Pai GS; Pappas J; Parsons G; Payne K; Putoux A; Rabin R; Sabatier I; Shinawi M; Shur N; Skinner SA; Valence S; Warren H; Whalen S; Crunk A; Douglas G; Monaghan KG; Person RE; Willaert R; Solomon BD; Juusola J
    Genet Med; 2019 Sep; 21(9):2036-2042. PubMed ID: 30739909
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pathogenic nonsense variant in NFIB in another patient with dysmorphism, Autism Spectrum Disorder, agenesis of the corpus callosum, and intellectual disability.
    Rao ACA; Goel H
    Eur J Med Genet; 2020 Dec; 63(12):104092. PubMed ID: 33130023
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
    Guillen Sacoto MJ; Tchasovnikarova IA; Torti E; Forster C; Andrew EH; Anselm I; Baranano KW; Briere LC; Cohen JS; Craigen WJ; Cytrynbaum C; Ekhilevitch N; Elrick MJ; Fatemi A; Fraser JL; Gallagher RC; Guerin A; Haynes D; High FA; Inglese CN; Kiss C; Koenig MK; Krier J; Lindstrom K; Marble M; Meddaugh H; Moran ES; Morel CF; Mu W; Muller EA; Nance J; Natowicz MR; Numis AL; Ostrem B; Pappas J; Stafstrom CE; Streff H; Sweetser DA; Szybowska M; ; Walker MA; Wang W; Weiss K; Weksberg R; Wheeler PG; Yoon G; Kingston RE; Juusola J
    Am J Hum Genet; 2020 Aug; 107(2):352-363. PubMed ID: 32693025
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
    Fountain MD; Oleson DS; Rech ME; Segebrecht L; Hunter JV; McCarthy JM; Lupo PJ; Holtgrewe M; Moran R; Rosenfeld JA; Isidor B; Le Caignec C; Saenz MS; Pedersen RC; Morgan TM; Pfotenhauer JP; Xia F; Bi W; Kang SL; Patel A; Krantz ID; Raible SE; Smith W; Cristian I; Torti E; Juusola J; Millan F; Wentzensen IM; Person RE; Küry S; Bézieau S; Uguen K; Férec C; Munnich A; van Haelst M; Lichtenbelt KD; van Gassen K; Hagelstrom T; Chawla A; Perry DL; Taft RJ; Jones M; Masser-Frye D; Dyment D; Venkateswaran S; Li C; Escobar LF; Horn D; Spillmann RC; Peña L; Wierzba J; Strom TM; Parenti I; Kaiser FJ; Ehmke N; Schaaf CP
    Genet Med; 2019 Aug; 21(8):1797-1807. PubMed ID: 30679821
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies.
    Lam Z; Wall E; Ryan G; Barber R; Kilby MD; Williams DK
    Prenat Diagn; 2023 Aug; 43(9):1247-1250. PubMed ID: 37409888
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
    Cheng H; Dharmadhikari AV; Varland S; Ma N; Domingo D; Kleyner R; Rope AF; Yoon M; Stray-Pedersen A; Posey JE; Crews SR; Eldomery MK; Akdemir ZC; Lewis AM; Sutton VR; Rosenfeld JA; Conboy E; Agre K; Xia F; Walkiewicz M; Longoni M; High FA; van Slegtenhorst MA; Mancini GMS; Finnila CR; van Haeringen A; den Hollander N; Ruivenkamp C; Naidu S; Mahida S; Palmer EE; Murray L; Lim D; Jayakar P; Parker MJ; Giusto S; Stracuzzi E; Romano C; Beighley JS; Bernier RA; Küry S; Nizon M; Corbett MA; Shaw M; Gardner A; Barnett C; Armstrong R; Kassahn KS; Van Dijck A; Vandeweyer G; Kleefstra T; Schieving J; Jongmans MJ; de Vries BBA; Pfundt R; Kerr B; Rojas SK; Boycott KM; Person R; Willaert R; Eichler EE; Kooy RF; Yang Y; Wu JC; Lupski JR; Arnesen T; Cooper GM; Chung WK; Gecz J; Stessman HAF; Meng L; Lyon GJ
    Am J Hum Genet; 2018 May; 102(5):985-994. PubMed ID: 29656860
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients.
    Li D; Downes H; Hou C; Hakonarson H; Zackai EH; Schrier Vergano SA; Bhoj EJ
    Am J Med Genet A; 2022 Mar; 188(3):878-882. PubMed ID: 34881817
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype.
    Fontana P; Ginevrino M; Bejo K; Cantalupo G; Ciavarella M; Lombardi C; Maioli M; Scarano F; Costabile C; Novelli A; Lonardo F
    Eur J Med Genet; 2021 Nov; 64(11):104321. PubMed ID: 34461323
    [TBL] [Abstract][Full Text] [Related]  

  • 14. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder.
    Scott TM; Guo H; Eichler EE; Rosenfeld JA; Pang K; Liu Z; Lalani S; Bi W; Yang Y; Bacino CA; Streff H; Lewis AM; Koenig MK; Thiffault I; Bellomo A; Everman DB; Jones JR; Stevenson RE; Bernier R; Gilissen C; Pfundt R; Hiatt SM; Cooper GM; Holder JL; Scott DA
    Hum Mutat; 2020 May; 41(5):921-925. PubMed ID: 31999386
    [TBL] [Abstract][Full Text] [Related]  

  • 15. De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
    Babbs C; Lloyd D; Pagnamenta AT; Twigg SR; Green J; McGowan SJ; Mirza G; Naples R; Sharma VP; Volpi EV; Buckle VJ; Wall SA; Knight SJ; ; Parr JR; Wilkie AO
    J Med Genet; 2014 Nov; 51(11):737-47. PubMed ID: 25228304
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorder.
    Brugger M; Brunet T; Wagner M; Orec LE; Schwaibold EMC; Boy N
    Gene; 2021 Feb; 768():145260. PubMed ID: 33164824
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. De novo variants in AGO1 recapitulate a heterogeneous neurodevelopmental disorder phenotype.
    Niu Y; Qian Q; Li J; Gong P; Jiao X; Mao X; Xiao B; Long L; Yang Z
    Clin Genet; 2022 Apr; 101(4):459-465. PubMed ID: 35060114
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with
    Szakszon K; Lourenco CM; Callewaert BL; Geneviève D; Rouxel F; Morin D; Denommé-Pichon AS; Vitobello A; Patterson WG; Louie R; Pinto E Vairo F; Klee E; Kaiwar C; Gavrilova RH; Agre KE; Jacquemont S; Khadijé J; Giltay J; van Gassen K; Merő G; Gerkes E; Van Bon BW; Rinne T; Pfundt R; Brunner HG; Caluseriu O; Grasshoff U; Kehrer M; Haack TB; Khelifa MM; Bergmann AK; Cueto-González AM; Martorell AC; Ramachandrappa S; Sawyer LB; Fasel P; Braun D; Isis A; Superti-Furga A; McNiven V; Chitayat D; Ahmed SA; Brennenstuhl H; Schwaibolf EM; Battisti G; Parmentier B; Stevens SJC
    J Med Genet; 2024 Jan; 61(2):132-141. PubMed ID: 37580113
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.
    Chaves TF; Ocampos M; Barbato IT; de Camargo Pinto LL; de Luca GR; Barbato Filho JH; Bernardi P; Costa Netto Muniz Y; Francesca Maris A
    Sci Rep; 2024 Feb; 14(1):3762. PubMed ID: 38355898
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.