200 related articles for article (PubMed ID: 33937879)
1. Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders.
Hiatt SM; Lawlor JMJ; Handley LH; Ramaker RC; Rogers BB; Partridge EC; Boston LB; Williams M; Plott CB; Jenkins J; Gray DE; Holt JM; Bowling KM; Bebin EM; Grimwood J; Schmutz J; Cooper GM
HGG Adv; 2021 Apr; 2(2):. PubMed ID: 33937879
[TBL] [Abstract][Full Text] [Related]
2. Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Hiatt SM; Lawlor JMJ; Handley LH; Latner DR; Bonnstetter ZT; Finnila CR; Thompson ML; Boston LB; Williams M; Nunez IR; Jenkins J; Kelley WV; Bebin EM; Lopez MA; Hurst ACE; Korf BR; Schmutz J; Grimwood J; Cooper GM
medRxiv; 2024 Mar; ():. PubMed ID: 38585854
[TBL] [Abstract][Full Text] [Related]
3. Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.
Tsuiko O; El Ayeb Y; Jatsenko T; Allemeersch J; Melotte C; Ding J; Debrock S; Peeraer K; Vanhie A; De Leener A; Pirard C; Kluyskens C; Denayer E; Legius E; Vermeesch JR; Brems H; Dimitriadou E
Hum Reprod; 2023 Mar; 38(3):511-519. PubMed ID: 36625546
[TBL] [Abstract][Full Text] [Related]
4. De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
Brunet T; Jech R; Brugger M; Kovacs R; Alhaddad B; Leszinski G; Riedhammer KM; Westphal DS; Mahle I; Mayerhanser K; Skorvanek M; Weber S; Graf E; Berutti R; Necpál J; Havránková P; Pavelekova P; Hempel M; Kotzaeridou U; Hoffmann GF; Leiz S; Makowski C; Roser T; Schroeder SA; Steinfeld R; Strobl-Wildemann G; Hoefele J; Borggraefe I; Distelmaier F; Strom TM; Winkelmann J; Meitinger T; Zech M; Wagner M
Clin Genet; 2021 Jul; 100(1):14-28. PubMed ID: 33619735
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Genetic Diagnosis of Children With Neurodevelopmental Disorders Using Whole Genome Sequencing.
Shin S; Lee J; Kim YG; Ha C; Park JH; Kim JW; Lee J; Jang JH
Pediatr Neurol; 2023 Dec; 149():44-52. PubMed ID: 37776660
[TBL] [Abstract][Full Text] [Related]
7. Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Sanchis-Juan A; Megy K; Stephens J; Armirola Ricaurte C; Dewhurst E; Low K; French CE; Grozeva D; Stirrups K; Erwood M; McTague A; Penkett CJ; Shamardina O; Tuna S; Daugherty LC; Gleadall N; Duarte ST; Hedrera-Fernández A; Vogt J; Ambegaonkar G; Chitre M; Josifova D; Kurian MA; Parker A; Rankin J; Reid E; Wakeling E; Wassmer E; Woods CG; ; Raymond FL; Carss KJ
Am J Hum Genet; 2023 Aug; 110(8):1343-1355. PubMed ID: 37541188
[TBL] [Abstract][Full Text] [Related]
8. Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting.
Pranav Chand R; Vinit W; Vaidya V; Iyer AS; Shelke M; Aggarwal S; Magar S; Danda S; Moirangthem A; Phadke SR; Goyal M; Ranganath P; Mistri M; Shah P; Shah N; Kotecha UH
Eur J Med Genet; 2023 May; 66(5):104730. PubMed ID: 36801247
[TBL] [Abstract][Full Text] [Related]
9. Comparison of ONT and CCS sequencing technologies on the polyploid genome of a medicinal plant showed that high error rate of ONT reads are not suitable for self-correction.
Zeng P; Tian Z; Han Y; Zhang W; Zhou T; Peng Y; Hu H; Cai J
Chin Med; 2022 Aug; 17(1):94. PubMed ID: 35945546
[TBL] [Abstract][Full Text] [Related]
10. De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders.
Dulovic-Mahlow M; Trinh J; Kandaswamy KK; Braathen GJ; Di Donato N; Rahikkala E; Beblo S; Werber M; Krajka V; Busk ØL; Baumann H; Al-Sannaa NA; Hinrichs F; Affan R; Navot N; Al Balwi MA; Oprea G; Holla ØL; Weiss MER; Jamra RA; Kahlert AK; Kishore S; Tveten K; Vos M; Rolfs A; Lohmann K
Am J Hum Genet; 2019 Jul; 105(1):213-220. PubMed ID: 31230721
[TBL] [Abstract][Full Text] [Related]
11. Long-read sequencing to resolve the parent of origin of a de novo pathogenic
Watson CM; Jackson L; Crinnion LA; Bonthron DT; Sheridan E
J Med Genet; 2022 Nov; 59(11):1082-1086. PubMed ID: 35414530
[No Abstract] [Full Text] [Related]
12. Identification and characterisation of de novo germline structural variants in two commercial pig lines using trio-based whole genome sequencing.
Steensma MJ; Lee YL; Bouwman AC; Pita Barros C; Derks MFL; Bink MCAM; Harlizius B; Huisman AE; Crooijmans RPMA; Groenen MAM; Mulder HA; Rochus CM
BMC Genomics; 2023 Apr; 24(1):208. PubMed ID: 37072725
[TBL] [Abstract][Full Text] [Related]
13. Comprehensive de novo mutation discovery with HiFi long-read sequencing.
Kucuk E; van der Sanden BPGH; O'Gorman L; Kwint M; Derks R; Wenger AM; Lambert C; Chakraborty S; Baybayan P; Rowell WJ; Brunner HG; Vissers LELM; Hoischen A; Gilissen C
Genome Med; 2023 May; 15(1):34. PubMed ID: 37158973
[TBL] [Abstract][Full Text] [Related]
14. Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing.
Sanchis-Juan A; Stephens J; French CE; Gleadall N; Mégy K; Penkett C; Shamardina O; Stirrups K; Delon I; Dewhurst E; Dolling H; Erwood M; Grozeva D; Stefanucci L; Arno G; Webster AR; Cole T; Austin T; Branco RG; Ouwehand WH; Raymond FL; Carss KJ
Genome Med; 2018 Dec; 10(1):95. PubMed ID: 30526634
[TBL] [Abstract][Full Text] [Related]
15. High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders.
Lecoquierre F; Quenez O; Fourneaux S; Coutant S; Vezain M; Rolain M; Drouot N; Boland A; Olaso R; Meyer V; Deleuze JF; Dabbagh D; Gilles I; Gayet C; Saugier-Veber P; Goldenberg A; Guerrot AM; Nicolas G
Hum Genet; 2023 Jun; 142(6):773-783. PubMed ID: 37076692
[TBL] [Abstract][Full Text] [Related]
16. Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Wright CF; Campbell P; Eberhardt RY; Aitken S; Perrett D; Brent S; Danecek P; Gardner EJ; Chundru VK; Lindsay SJ; Andrews K; Hampstead J; Kaplanis J; Samocha KE; Middleton A; Foreman J; Hobson RJ; Parker MJ; Martin HC; FitzPatrick DR; Hurles ME; Firth HV;
N Engl J Med; 2023 Apr; 388(17):1559-1571. PubMed ID: 37043637
[TBL] [Abstract][Full Text] [Related]
17. SMRT sequencing only de novo assembly of the sugar beet (Beta vulgaris) chloroplast genome.
Stadermann KB; Weisshaar B; Holtgräwe D
BMC Bioinformatics; 2015 Sep; 16(1):295. PubMed ID: 26377912
[TBL] [Abstract][Full Text] [Related]
18. Familial long-read sequencing increases yield of de novo mutations.
Noyes MD; Harvey WT; Porubsky D; Sulovari A; Li R; Rose NR; Audano PA; Munson KM; Lewis AP; Hoekzema K; Mantere T; Graves-Lindsay TA; Sanders AD; Goodwin S; Kramer M; Mokrab Y; Zody MC; Hoischen A; Korbel JO; McCombie WR; Eichler EE
Am J Hum Genet; 2022 Apr; 109(4):631-646. PubMed ID: 35290762
[TBL] [Abstract][Full Text] [Related]
19. Initial Analysis of Structural Variation Detections in Cattle Using Long-Read Sequencing Methods.
Gao Y; Ma L; Liu GE
Genes (Basel); 2022 May; 13(5):. PubMed ID: 35627213
[TBL] [Abstract][Full Text] [Related]
20. Benchmarking hybrid assemblies of Giardia and prediction of widespread intra-isolate structural variation.
Pollo SMJ; Reiling SJ; Wit J; Workentine ML; Guy RA; Batoff GW; Yee J; Dixon BR; Wasmuth JD
Parasit Vectors; 2020 Feb; 13(1):108. PubMed ID: 32111234
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
