BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

312 related articles for article (PubMed ID: 34157790)

  • 1. Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder.
    Semino F; Schröter J; Willemsen MH; Bast T; Biskup S; Beck-Woedl S; Brennenstuhl H; Schaaf CP; Kölker S; Hoffmann GF; Haack TB; Syrbe S
    Hum Mutat; 2021 Sep; 42(9):1094-1100. PubMed ID: 34157790
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Targeted sequencing identifies risk variants in 202 candidate genes for neurodevelopmental disorders.
    Pang N; Li K; Tan S; Chen M; He F; Chen C; Yang L; Zhang C; Deng X; Yang L; Mao L; Wang G; Duan H; Wang X; Zhang W; Guo H; Peng J; Yin F; Xia K
    Gene; 2024 Mar; 897():148071. PubMed ID: 38081334
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
    Gofin Y; Wang T; Gillentine MA; Scott TM; Berry AM; Azamian MS; Genetti C; Agrawal PB; Picker J; Wojcik MH; Delgado MR; Lynch SA; Scherer SW; Howe JL; Bacino CA; DiTroia S; VanNoy GE; O'Donnell-Luria A; Lalani SR; Graf WD; Rosenfeld JA; Eichler EE; Earl RK; Scott DA
    Hum Mutat; 2022 Apr; 43(4):461-470. PubMed ID: 35094443
    [TBL] [Abstract][Full Text] [Related]  

  • 6. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.
    Mirzaa GM; Chong JX; Piton A; Popp B; Foss K; Guo H; Harripaul R; Xia K; Scheck J; Aldinger KA; Sajan SA; Tang S; Bonneau D; Beck A; White J; Mahida S; Harris J; Smith-Hicks C; Hoyer J; Zweier C; Reis A; Thiel CT; Jamra RA; Zeid N; Yang A; Farach LS; Walsh L; Payne K; Rohena L; Velinov M; Ziegler A; Schaefer E; Gatinois V; Geneviève D; Simon MEH; Kohler J; Rotenberg J; Wheeler P; Larson A; Ernst ME; Akman CI; Westman R; Blanchet P; Schillaci LA; Vincent-Delorme C; Gripp KW; Mattioli F; Guyader GL; Gerard B; Mathieu-Dramard M; Morin G; Sasanfar R; Ayub M; Vasli N; Yang S; Person R; Monaghan KG; Nickerson DA; van Binsbergen E; Enns GM; Dries AM; Rowe LJ; Tsai ACH; Svihovec S; Friedman J; Agha Z; Qamar R; Rodan LH; Martinez-Agosto J; Ockeloen CW; Vincent M; Sunderland WJ; Bernstein JA; ; Eichler EE; Vincent JB; ; Bamshad MJ
    Genet Med; 2020 Mar; 22(3):538-546. PubMed ID: 31723249
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
    Gillentine MA; Wang T; Hoekzema K; Rosenfeld J; Liu P; Guo H; Kim CN; De Vries BBA; Vissers LELM; Nordenskjold M; Kvarnung M; Lindstrand A; Nordgren A; Gecz J; Iascone M; Cereda A; Scatigno A; Maitz S; Zanni G; Bertini E; Zweier C; Schuhmann S; Wiesener A; Pepper M; Panjwani H; Torti E; Abid F; Anselm I; Srivastava S; Atwal P; Bacino CA; Bhat G; Cobian K; Bird LM; Friedman J; Wright MS; Callewaert B; Petit F; Mathieu S; Afenjar A; Christensen CK; White KM; Elpeleg O; Berger I; Espineli EJ; Fagerberg C; Brasch-Andersen C; Hansen LK; Feyma T; Hughes S; Thiffault I; Sullivan B; Yan S; Keller K; Keren B; Mignot C; Kooy F; Meuwissen M; Basinger A; Kukolich M; Philips M; Ortega L; Drummond-Borg M; Lauridsen M; Sorensen K; Lehman A; ; Lopez-Rangel E; Levy P; Lessel D; Lotze T; Madan-Khetarpal S; Sebastian J; Vento J; Vats D; Benman LM; Mckee S; Mirzaa GM; Muss C; Pappas J; Peeters H; Romano C; Elia M; Galesi O; Simon MEH; van Gassen KLI; Simpson K; Stratton R; Syed S; Thevenon J; Palafoll IV; Vitobello A; Bournez M; Faivre L; Xia K; ; Earl RK; Nowakowski T; Bernier RA; Eichler EE
    Genome Med; 2021 Apr; 13(1):63. PubMed ID: 33874999
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
    Wiltrout K; Brimble E; Poduri A
    Epilepsia; 2024 May; 65(5):1428-1438. PubMed ID: 38470175
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder.
    Schmid CM; Gregor A; Costain G; Morel CF; Massingham L; Schwab J; Quélin C; Faoucher M; Kaplan J; Procopio R; Saunders CJ; Cohen ASA; Lemire G; Sacharow S; O'Donnell-Luria A; Segal RJ; Kianmahd Shamshoni J; Schweitzer D; Ebrahimi-Fakhari D; Monaghan K; Palculict TB; Napier MP; Tao A; Isidor B; Moradkhani K; Reis A; Sticht H; ; Chung WK; Zweier C
    Genet Med; 2023 Jul; 25(7):100839. PubMed ID: 37057675
    [TBL] [Abstract][Full Text] [Related]  

  • 11. PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.
    Khalil R; Kenny C; Hill RS; Mochida GH; Nasir R; Partlow JN; Barry BJ; Al-Saffar M; Egan C; Stevens CR; Gabriel SB; Barkovich AJ; Ellison JW; Al-Gazali L; Walsh CA; Chahrour MH
    Am J Med Genet B Neuropsychiatr Genet; 2018 Dec; 177(8):736-745. PubMed ID: 30421579
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort.
    Chen S; Xiong J; Chen B; Zhang C; Deng X; He F; Yang L; Chen C; Peng J; Yin F
    Clin Chim Acta; 2022 Jan; 524():179-186. PubMed ID: 34800434
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
    Sleyp Y; Valenzuela I; Accogli A; Ballon K; Ben-Zeev B; Berkovic SF; Broly M; Callaerts P; Caylor RC; Charles P; Chatron N; Cohen L; Coppola A; Cordeiro D; Cuccurullo C; Cuscó I; Janette diMonda ; Duran-Romaña R; Ekhilevitch N; Fernández-Alvarez P; Gordon CT; Isidor B; Keren B; Lesca G; Maljaars J; Mercimek-Andrews S; Morrow MM; Muir AM; ; Rousseau F; Salpietro V; Scheffer IE; Schnur RE; Schymkowitz J; Souche E; Steyaert J; Stolerman ES; Vengoechea J; Ville D; Washington C; Weiss K; Zaid R; Sadleir LG; Mefford HC; Peeters H
    Genet Med; 2022 Dec; 24(12):2464-2474. PubMed ID: 36214804
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.
    Smith L; Singhal N; El Achkar CM; Truglio G; Rosen Sheidley B; Sullivan J; Poduri A
    Epilepsia; 2018 Mar; 59(3):679-689. PubMed ID: 29377098
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
    Guo H; Zhang Q; Dai R; Yu B; Hoekzema K; Tan J; Tan S; Jia X; Chung WK; Hernan R; Alkuraya FS; Alsulaiman A; Al-Muhaizea MA; Lesca G; Pons L; Labalme A; Laux L; Bryant E; Brown NJ; Savva E; Ayres S; Eratne D; Peeters H; Bilan F; Letienne-Cejudo L; Gilbert-Dussardier B; Ruiz-Arana IL; Merlini JM; Boizot A; Bartoloni L; Santoni F; Karlowicz D; McDonald M; Wu H; Hu Z; Chen G; Ou J; Brasch-Andersen C; Fagerberg CR; Dreyer I; Chun-Hui Tsai A; Slegesky V; McGee RB; Daniels B; Sellars EA; Carpenter LA; Schaefer B; Sacoto MJG; Begtrup A; Schnur RE; Punj S; Wentzensen IM; Rhodes L; Pan Q; Bernier RA; Chen C; Eichler EE; Xia K
    Am J Hum Genet; 2020 Nov; 107(5):963-976. PubMed ID: 33157009
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous
    Evans DR; Qiao Y; Trost B; Calli K; Martell S; Jones SJM; Scherer SW; Lewis MES
    Genes (Basel); 2022 Mar; 13(3):. PubMed ID: 35328024
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.