160 related articles for article (PubMed ID: 34364746)
1. Genomics in Cerebral Palsy phenotype across the lifespan: Comparison of diagnostic yield between children and adult population.
Al Zahrani H; Siriwardena K; Young D; Lehman A; Horvath GA; Goez H
Mol Genet Metab; 2022 Dec; 137(4):420-427. PubMed ID: 34364746
[TBL] [Abstract][Full Text] [Related]
2. Atypical cerebral palsy: genomics analysis enables precision medicine.
Matthews AM; Blydt-Hansen I; Al-Jabri B; Andersen J; Tarailo-Graovac M; Price M; Selby K; Demos M; Connolly M; Drögemoller B; Shyr C; Mwenifumbo J; Elliott AM; Lee J; Ghani A; Stöckler S; Salvarinova R; Vallance H; Sinclair G; Ross CJ; Wasserman WW; McKinnon ML; Horvath GA; Goez H; van Karnebeek CD;
Genet Med; 2019 Jul; 21(7):1621-1628. PubMed ID: 30542205
[TBL] [Abstract][Full Text] [Related]
3. Hidden etiology of cerebral palsy: genetic and clinical heterogeneity and efficient diagnosis by next-generation sequencing.
Rosello M; Caro-Llopis A; Orellana C; Oltra S; Alemany-Albert M; Marco-Hernandez AV; Monfort S; Pedrola L; Martinez F; Tomás M
Pediatr Res; 2021 Aug; 90(2):284-288. PubMed ID: 33177673
[TBL] [Abstract][Full Text] [Related]
4. Genetic counseling considerations in cerebral palsy.
Elliott AM; Guimond C
Mol Genet Metab; 2022 Dec; 137(4):428-435. PubMed ID: 34389249
[TBL] [Abstract][Full Text] [Related]
5. Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy.
Moreno-De-Luca A; Millan F; Pesacreta DR; Elloumi HZ; Oetjens MT; Teigen C; Wain KE; Scuffins J; Myers SM; Torene RI; Gainullin VG; Arvai K; Kirchner HL; Ledbetter DH; Retterer K; Martin CL
JAMA; 2021 Feb; 325(5):467-475. PubMed ID: 33528536
[TBL] [Abstract][Full Text] [Related]
6. Limitations of Multigene Next-Generation Sequencing Panel for "Cerebral Palsy" Phenotype and Other Complex Movement Disorders.
Eskandar M; Tochen L; Shin MR; Lavenstein B; Meltzer M; Gropman A; Sen K
Pediatr Neurol; 2023 Dec; 149():15-18. PubMed ID: 37757660
[TBL] [Abstract][Full Text] [Related]
7. Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.
Gonzalez-Mantilla PJ; Hu Y; Myers SM; Finucane BM; Ledbetter DH; Martin CL; Moreno-De-Luca A
JAMA Pediatr; 2023 May; 177(5):472-478. PubMed ID: 36877506
[TBL] [Abstract][Full Text] [Related]
8. Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink K; Huibers MMH; Hollink IHIM; Simons A; Zonneveld-Huijssoon E; van der Veken LT; Leavis HL; Henriet SSV; van Deuren M; van de Veerdonk FL; Potjewijd J; Berghuis D; Dalm VASH; Vermont CL; van de Ven AAJM; Lambeck AJA; Abbott KM; van Hagen PM; de Bree GJ; Kuijpers TW; Frederix GWJ; van Gijn ME; van Montfrans JM;
Front Immunol; 2021; 12():780134. PubMed ID: 34992599
[TBL] [Abstract][Full Text] [Related]
9. A diagnostic approach for cerebral palsy in the genomic era.
Lee RW; Poretti A; Cohen JS; Levey E; Gwynn H; Johnston MV; Hoon AH; Fatemi A
Neuromolecular Med; 2014 Dec; 16(4):821-44. PubMed ID: 25280894
[TBL] [Abstract][Full Text] [Related]
10. Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
Gall K; Izzo E; Seppälä EH; Alakurtti K; Koskinen L; Saarinen I; Singh A; Myllykangas S; Koskenvuo J; Alastalo TP
PLoS One; 2021; 16(9):e0255933. PubMed ID: 34469436
[TBL] [Abstract][Full Text] [Related]
11. Genomic testing and counseling: The contribution of next-generation sequencing to epilepsy genetics.
Alsubaie L; Aloraini T; Amoudi M; Swaid A; Eyiad W; Al Mutairi F; Ababneh F; Alrifai MT; Baarmah D; Altwaijri W; Alotaibi N; Harthi A; Rumayyan A; Alanazi A; Qrimli M; Alfadhel M; Alfares A
Ann Hum Genet; 2020 Nov; 84(6):431-436. PubMed ID: 32533790
[TBL] [Abstract][Full Text] [Related]
12. Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies.
Friedman JM; van Essen P; van Karnebeek CDM
Mol Genet Metab; 2022 Dec; 137(4):399-419. PubMed ID: 34872807
[TBL] [Abstract][Full Text] [Related]
13. Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.
Stödberg T; Tomson T; Barbaro M; Stranneheim H; Anderlid BM; Carlsson S; Åmark P; Wedell A
Epilepsia; 2020 Nov; 61(11):2486-2499. PubMed ID: 32964447
[TBL] [Abstract][Full Text] [Related]
14. Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong S; Wang L; Zhao D; Zhang Y; Chen Y; Tan J; Liang L; Zhu T
Mol Genet Genomic Med; 2019 Jun; 7(6):e684. PubMed ID: 30968598
[TBL] [Abstract][Full Text] [Related]
15. Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.
MacLennan AH; Lewis S; Moreno-De-Luca A; Fahey M; Leventer RJ; McIntyre S; Ben-Pazi H; Corbett M; Wang X; Baynam G; Fehlings D; Kurian MA; Zhu C; Himmelmann K; Smithers-Sheedy H; Wilson Y; Ocaña CS; van Eyk C; Badawi N; Wintle RF; Jacobsson B; Amor DJ; Mallard C; Pérez-Jurado LA; Hallman M; Rosenbaum PJ; Kruer MC; Gecz J
J Child Neurol; 2019 Jul; 34(8):472-476. PubMed ID: 30963790
[TBL] [Abstract][Full Text] [Related]
16. Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Shah M; Shanks M; Packham E; Williams J; Haysmoore J; MacLaren RE; Németh AH; Clouston P; Downes SM
Ophthalmic Genet; 2020 Aug; 41(4):331-337. PubMed ID: 32543920
[TBL] [Abstract][Full Text] [Related]
17. The emerging genetic landscape of cerebral palsy.
van Eyk CL; Corbett MA; Maclennan AH
Handb Clin Neurol; 2018; 147():331-342. PubMed ID: 29325622
[TBL] [Abstract][Full Text] [Related]
18. Practice parameter: diagnostic assessment of the child with cerebral palsy: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.
Ashwal S; Russman BS; Blasco PA; Miller G; Sandler A; Shevell M; Stevenson R; ;
Neurology; 2004 Mar; 62(6):851-63. PubMed ID: 15037681
[TBL] [Abstract][Full Text] [Related]
19. Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.
Hoelz H; Herdl C; Gerstl L; Tacke M; Vill K; von Stuelpnagel C; Rost I; Hoertnagel K; Abicht A; Hollizeck S; Larsen LHG; Borggraefe I
Clin EEG Neurosci; 2020 Jan; 51(1):61-69. PubMed ID: 31554424
[No Abstract] [Full Text] [Related]
20. Next Generation Sequencing (NGS) Strategies for Genetic Testing of Cerebral Cavernous Malformation (CCM) Disease.
Benedetti V; Pellegrino E; Brusco A; Piva R; Retta SF
Methods Mol Biol; 2020; 2152():59-75. PubMed ID: 32524544
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]