187 related articles for article (PubMed ID: 37872450)
1. Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.
Miller KE; Rivaldi AC; Shinagawa N; Sran S; Navarro JB; Westfall JJ; Miller AR; Roberts RD; Akkari Y; Supinger R; Hester ME; Marhabaie M; Gade M; Lu J; Rodziyevska O; Bhattacharjee MB; Von Allmen GK; Yang E; Lidov HGW; Harini C; Shah MN; Leonard J; Pindrik J; Shaikhouni A; Goldman JE; Pierson CR; Thomas DL; Boué DR; Ostendorf AP; Mardis ER; Poduri A; Koboldt DC; Heinzen EL; Bedrosian TA
Nat Genet; 2023 Nov; 55(11):1920-1928. PubMed ID: 37872450
[TBL] [Abstract][Full Text] [Related]
2. Somatic mutation: The hidden genetics of brain malformations and focal epilepsies.
Ye Z; McQuillan L; Poduri A; Green TE; Matsumoto N; Mefford HC; Scheffer IE; Berkovic SF; Hildebrand MS
Epilepsy Res; 2019 Sep; 155():106161. PubMed ID: 31295639
[TBL] [Abstract][Full Text] [Related]
3. Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapies.
Ye Z; Bennett MF; Bahlo M; Scheffer IE; Berkovic SF; Perucca P; Hildebrand MS
Expert Rev Neurother; 2021 Nov; 21(11):1309-1316. PubMed ID: 34519595
[TBL] [Abstract][Full Text] [Related]
4. Somatic mosaicism in focal epilepsies.
Gooley S; Perucca P; Tubb C; Hildebrand MS; Berkovic SF
Curr Opin Neurol; 2024 Apr; 37(2):105-114. PubMed ID: 38235675
[TBL] [Abstract][Full Text] [Related]
5. Brain somatic mosaicism in epilepsy: Bringing results back to the clinic.
D'Gama AM; Poduri A
Neurobiol Dis; 2023 Jun; 181():106104. PubMed ID: 36972791
[TBL] [Abstract][Full Text] [Related]
6. RAS pathway: The new frontier of brain mosaicism in epilepsy.
Sran S; Bedrosian TA
Neurobiol Dis; 2023 May; 180():106074. PubMed ID: 36907520
[TBL] [Abstract][Full Text] [Related]
7. Application of single cell genomics to focal epilepsies: A call to action.
Khoshkhoo S; Lal D; Walsh CA
Brain Pathol; 2021 Jul; 31(4):e12958. PubMed ID: 34196990
[TBL] [Abstract][Full Text] [Related]
8. The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
López-Rivera JA; Leu C; Macnee M; Khoury J; Hoffmann L; Coras R; Kobow K; Bhattarai N; Pérez-Palma E; Hamer H; Brandner S; Rössler K; Bien CG; Kalbhenn T; Pieper T; Hartlieb T; Butler E; Genovese G; Becker K; Altmüller J; Niestroj LM; Ferguson L; Busch RM; Nürnberg P; Najm I; Blümcke I; Lal D
Brain; 2023 Apr; 146(4):1342-1356. PubMed ID: 36226386
[TBL] [Abstract][Full Text] [Related]
9. Frequent SLC35A2 brain mosaicism in mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE).
Bonduelle T; Hartlieb T; Baldassari S; Sim NS; Kim SH; Kang HC; Kobow K; Coras R; Chipaux M; Dorfmüller G; Adle-Biassette H; Aronica E; Lee JH; Blumcke I; Baulac S
Acta Neuropathol Commun; 2021 Jan; 9(1):3. PubMed ID: 33407896
[TBL] [Abstract][Full Text] [Related]
10. Mosaic trisomy of chromosome 1q in human brain tissue associates with unilateral polymicrogyria, very early-onset focal epilepsy, and severe developmental delay.
Kobow K; Jabari S; Pieper T; Kudernatsch M; Polster T; Woermann FG; Kalbhenn T; Hamer H; Rössler K; Mühlebner A; Spliet WGM; Feucht M; Hou Y; Stichel D; Korshunov A; Sahm F; Coras R; Blümcke I; von Deimling A
Acta Neuropathol; 2020 Dec; 140(6):881-891. PubMed ID: 32979071
[TBL] [Abstract][Full Text] [Related]
11. Detection of brain somatic variation in epilepsy-associated developmental lesions.
Bedrosian TA; Miller KE; Grischow OE; Schieffer KM; LaHaye S; Yoon H; Miller AR; Navarro J; Westfall J; Leraas K; Choi S; Williamson R; Fitch J; Kelly BJ; White P; Lee K; McGrath S; Cottrell CE; Magrini V; Leonard J; Pindrik J; Shaikhouni A; Boué DR; Thomas DL; Pierson CR; Wilson RK; Ostendorf AP; Mardis ER; Koboldt DC
Epilepsia; 2022 Aug; 63(8):1981-1997. PubMed ID: 35687047
[TBL] [Abstract][Full Text] [Related]
12. Cell type specificity of mosaic chromosome 1q gain resolved by snRNA-seq in a case of epilepsy with hyaline protoplasmic astrocytopathy.
Leng K; Cadwell CR; Patrick Devine W; Tihan T; Qi Z; Singhal N; Glenn O; Kamiya S; Wiita A; Berger A; Shieh JT; Titus EW; Paredes MF; Upadhyay V
bioRxiv; 2024 Jan; ():. PubMed ID: 38328093
[TBL] [Abstract][Full Text] [Related]
13. Cell-Type Specificity of Mosaic Chromosome 1q Gain Resolved by snRNA-seq in a Case of Epilepsy With Hyaline Protoplasmic Astrocytopathy.
Leng K; Cadwell CR; Devine WP; Tihan T; Qi Z; Singhal NS; Glenn OA; Kamiya S; Wiita AP; Berger AC; Shieh JT; Titus EW; Paredes MF; Upadhyay V
Neurol Genet; 2024 Apr; 10(2):e200142. PubMed ID: 38586598
[TBL] [Abstract][Full Text] [Related]
14. The use of copy number loads to designate mosaicism in blastocyst stage PGT-A cycles: fewer is better.
Girardi L; Figliuzzi M; Poli M; Serdarogullari M; Patassini C; Caroselli S; Pergher I; Cogo F; Coban O; Boynukalin FK; Bahceci M; Navarro R; Rubio C; Findikli N; Simón C; Capalbo A
Hum Reprod; 2023 May; 38(5):982-991. PubMed ID: 36928183
[TBL] [Abstract][Full Text] [Related]
15. Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.
Ribierre T; Deleuze C; Bacq A; Baldassari S; Marsan E; Chipaux M; Muraca G; Roussel D; Navarro V; Leguern E; Miles R; Baulac S
J Clin Invest; 2018 Jun; 128(6):2452-2458. PubMed ID: 29708508
[TBL] [Abstract][Full Text] [Related]
16. Mosaic SCN1A mutations in familial partial epilepsy with antecedent febrile seizures.
Shi YW; Yu MJ; Long YS; Qin B; He N; Meng H; Liu XR; Deng WY; Gao MM; Yi YH; Li BM; Liao WP
Genes Brain Behav; 2012 Mar; 11(2):170-6. PubMed ID: 22151702
[TBL] [Abstract][Full Text] [Related]
17. Tandem duplication mosaicism: characterization of a mosaic dup(5q) and review.
Rauen KA; Bitts SM; Li L; Golabi M; Cotter PD
Clin Genet; 2001 Nov; 60(5):366-70. PubMed ID: 11903338
[TBL] [Abstract][Full Text] [Related]
18. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Mirzaa GM; Campbell CD; Solovieff N; Goold C; Jansen LA; Menon S; Timms AE; Conti V; Biag JD; Adams C; Boyle EA; Collins S; Ishak G; Poliachik S; Girisha KM; Yeung KS; Chung BHY; Rahikkala E; Gunter SA; McDaniel SS; Macmurdo CF; Bernstein JA; Martin B; Leary R; Mahan S; Liu S; Weaver M; Doerschner M; Jhangiani S; Muzny DM; Boerwinkle E; Gibbs RA; Lupski JR; Shendure J; Saneto RP; Novotny EJ; Wilson CJ; Sellers WR; Morrissey M; Hevner RF; Ojemann JG; Guerrini R; Murphy LO; Winckler W; Dobyns WB
JAMA Neurol; 2016 Jul; 73(7):836-845. PubMed ID: 27159400
[TBL] [Abstract][Full Text] [Related]
19. Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome.
Žilina O; Koltšina M; Raid R; Kurg A; Tõnisson N; Salumets A
BMC Genomics; 2015 Sep; 16(1):703. PubMed ID: 26376747
[TBL] [Abstract][Full Text] [Related]
20. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.
Pham J; Shaw C; Pursley A; Hixson P; Sampath S; Roney E; Gambin T; Kang SH; Bi W; Lalani S; Bacino C; Lupski JR; Stankiewicz P; Patel A; Cheung SW
Eur J Hum Genet; 2014 Aug; 22(8):969-78. PubMed ID: 24398791
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
