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Monogenic variants in dystonia: an exome-wide sequencing study.
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J. Zech M, et al. Lancet Neurol. 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. Lancet Neurol. 2020. PMID: 33098801 Free PMC article.
We aimed to elucidate the monogenic causes for the major clinical categories of dystonia. METHODS: For this exome-wide sequencing study, study participants were identified at 33 movement-disorder and neuropaediatric specialty centres in Austria, Czech Republic, France, Ger …
We aimed to elucidate the monogenic causes for the major clinical categories of dystonia. METHODS: For this exome-wide sequencing stu …
Parents' interest in whole-genome sequencing of newborns.
Goldenberg AJ, Dodson DS, Davis MM, Tarini BA. Goldenberg AJ, et al. Genet Med. 2014 Jan;16(1):78-84. doi: 10.1038/gim.2013.76. Epub 2013 Jun 6. Genet Med. 2014. PMID: 23743552 Free PMC article.
PURPOSE: The aim of this study was to assess parents' interest in whole-genome sequencing for newborns. METHODS: We conducted a survey of a nationally representative sample of 1,539 parents about their interest in whole
PURPOSE: The aim of this study was to assess parents' interest in whole-genome sequencing for newborns
Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve.
Berrios C, Koertje C, Noel-MacDonnell J, Soden S, Lantos J. Berrios C, et al. Genet Med. 2020 Feb;22(2):416-422. doi: 10.1038/s41436-019-0644-5. Epub 2019 Aug 30. Genet Med. 2020. PMID: 31467447 Free PMC article.
PURPOSE: In 2014, our institution launched a randomized controlled trial (RCT) comparing rapid genome sequencing (GS) to standard clinical evaluations of infants with suspected genetic disorders. This study aimed to understand parental response to the use of …
PURPOSE: In 2014, our institution launched a randomized controlled trial (RCT) comparing rapid genome sequencing (GS) to stand …
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A, Valero RA, Jimenez-Almazan J, Pardo PM, Fabiani M, Jiménez D, Simon C, Rodriguez JM. Capalbo A, et al. PLoS Genet. 2019 Oct 7;15(10):e1008409. doi: 10.1371/journal.pgen.1008409. eCollection 2019 Oct. PLoS Genet. 2019. PMID: 31589614 Free PMC article.
Limited translational genomic research data have been reported on the application of exome sequencing and parallel gene testing for preconception carrier screening (PCS). ...Further, two additional couples had increased risk for very rare conditions when both members of a …
Limited translational genomic research data have been reported on the application of exome sequencing and parallel gene testing for p …
Genome sequencing of human in vitro fertilisation embryos for pathogenic variation screening.
Murphy NM, Samarasekera TS, Macaskill L, Mullen J, Rombauts LJF. Murphy NM, et al. Sci Rep. 2020 Mar 2;10(1):3795. doi: 10.1038/s41598-020-60704-0. Sci Rep. 2020. PMID: 32123222 Free PMC article.
Whole-genome sequencing of preimplantation human embryos to detect and screen for genetic diseases is a technically challenging extension to preconception screening. Combining preconception genetic screening with preimplantation testing of human embryos facil
Whole-genome sequencing of preimplantation human embryos to detect and screen for genetic diseases is a technically cha
Neonatologists' Attitudes About Diagnostic Whole-Genome Sequencing in the NICU.
Knapp B, Decker C, Lantos JD. Knapp B, et al. Pediatrics. 2019 Jan;143(Suppl 1):S54-S57. doi: 10.1542/peds.2018-1099J. Pediatrics. 2019. PMID: 30600272
Using focus group methodology, we studied the attitudes of neonatologists regarding diagnostic rapid genome sequencing for newborns who were critically ill in a NICU. One focus group took place within the first year after whole-genome sequenc
Using focus group methodology, we studied the attitudes of neonatologists regarding diagnostic rapid genome sequencing for …
Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?
Anderson JA, Meyn MS, Shuman C, Zlotnik Shaul R, Mantella LE, Szego MJ, Bowdin S, Monfared N, Hayeems RZ. Anderson JA, et al. J Med Ethics. 2017 Aug;43(8):535-539. doi: 10.1136/medethics-2016-103564. Epub 2016 Nov 25. J Med Ethics. 2017. PMID: 27888232
OBJECTIVE: To better understand the consequences of returning whole genome sequencing (WGS) results in paediatrics and facilitate its evidence-based clinical implementation, we studied parents' experiences with WGS and their preferences for the return …
OBJECTIVE: To better understand the consequences of returning whole genome sequencing (WGS) results in paediatrics and …
Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.
Gowans LJJ, Al Dhaheri N, Li M, Busch T, Obiri-Yeboah S, Oti AA, Sabbah DK, Arthur FKN, Awotoye WO, Alade AA, Twumasi P, Agbenorku P, Plange-Rhule G, Naicker T, Donkor P, Murray JC, Sobreira NLM, Butali A. Gowans LJJ, et al. Mol Genet Genomic Med. 2021 Apr;9(4):e1655. doi: 10.1002/mgg3.1655. Epub 2021 Mar 14. Mol Genet Genomic Med. 2021. PMID: 33719213 Free PMC article.
METHODS: At the time of recruitment, the most clinically obvious congenital anomalies in these individuals were the OFC and CTEV. We carried out whole-exome sequencing (WES) on DNA samples from probands and available parents employing the Agilent SureSelect X …
METHODS: At the time of recruitment, the most clinically obvious congenital anomalies in these individuals were the OFC and CTEV. We carried …
Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).
Chassagne A, Pélissier A, Houdayer F, Cretin E, Gautier E, Salvi D, Kidri S, Godard A, Thauvin-Robinet C, Masurel A, Lehalle D, Jean-Marçais N, Thevenon J, Lesca G, Putoux A, Cordier MP, Dupuis-Girod S, Till M, Duffourd Y, Rivière JB, Joly L, Juif C, Putois O, Ancet P, Lapointe AS, Morin P, Edery P, Rossi M, Sanlaville D, Béjean S, Peyron C, Faivre L. Chassagne A, et al. Eur J Hum Genet. 2019 May;27(5):701-710. doi: 10.1038/s41431-018-0332-y. Epub 2019 Feb 1. Eur J Hum Genet. 2019. PMID: 30710147 Free PMC article.
Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics, particularly for developmental diseases. ...The quantitative study aimed to determine the preferences of 513 parents regarding the disclosure of ES results. It showed that parents
Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics, particularly for developmental diseases. ...The q …
Application of Full-Spectrum Rapid Clinical Genome Sequencing Improves Diagnostic Rate and Clinical Outcomes in Critically Ill Infants in the China Neonatal Genomes Project.
Wu B, Kang W, Wang Y, Zhuang D, Chen L, Li L, Su Y, Pan X, Wei Q, Tang Z, Li Y, Gao J, Cheng R, Zhou W, Wang Z, Qiu G, Wang J, Yang L, Zhang P, Zhao X, Wang Y, Gan M, Li G, Liu R, Ni Q, Xiao F, Yan K, Cao Y, Lu G, Lu Y, Wang H, Zhou W. Wu B, et al. Crit Care Med. 2021 Oct 1;49(10):1674-1683. doi: 10.1097/CCM.0000000000005052. Crit Care Med. 2021. PMID: 33935161
OBJECTIVES: To determine the diagnostic and clinical utility of trio-rapid genome sequencing in critically ill infants. DESIGN: In this prospective study, samples from critically ill infants were analyzed using both proband-only clinical exome sequencing and …
OBJECTIVES: To determine the diagnostic and clinical utility of trio-rapid genome sequencing in critically ill infants. DESIGN …
94 results