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Year Number of Results
2012 1
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2019 21
2020 16
2021 28
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133 results

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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). Here, we present individual-level data from a large PCS program in which exome sequencing was r …
Limited translational genomic research data have been reported on the application of exome sequencing and parallel gene testing for p …
Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.
Maron JL, Kingsmore S, Gelb BD, Vockley J, Wigby K, Bragg J, Stroustrup A, Poindexter B, Suhrie K, Kim JH, Diacovo T, Powell CM, Trembath A, Guidugli L, Ellsworth KA, Reed D, Kurfiss A, Breeze JL, Trinquart L, Davis JM. Maron JL, et al. JAMA. 2023 Jul 11;330(2):161-169. doi: 10.1001/jama.2023.9350. JAMA. 2023. PMID: 37432431 Free PMC article.
Genomic sequencing did not report 19 variants found by the targeted neonatal gene-sequencing test; the targeted gene-sequencing test did not report 164 variants identified by genomic sequencing as diagnostic. ...Median time to return of results was 6.1 …
Genomic sequencing did not report 19 variants found by the targeted neonatal gene-sequencing test; the targeted gene-sequen …
Trio exome sequencing is highly relevant in prenatal diagnostics.
Gabriel H, Korinth D, Ritthaler M, Schulte B, Battke F, von Kaisenberg C, Wüstemann M, Schulze B, Friedrich-Freksa A, Pfeiffer L, Entezami M, Schröer A, Bürger J, Schwaibold EMC, Lebek H, Biskup S. Gabriel H, et al. Prenat Diagn. 2022 Jun;42(7):845-851. doi: 10.1002/pd.6081. Epub 2021 Dec 27. Prenat Diagn. 2022. PMID: 34958143 Free PMC article.
OBJECTIVE: About 3% of newborns show malformations, with about 20% of the affected having genetic causes. Clarification of genetic diseases in postnatal diagnostics was significantly improved with high-throughput sequencing, in particular through whole exome …
OBJECTIVE: About 3% of newborns show malformations, with about 20% of the affected having genetic causes. Clarification of genetic di …
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Willis MJ, Wolen AR, Defay T. Kingsmore SF, et al. Am J Hum Genet. 2022 Sep 1;109(9):1605-1619. doi: 10.1016/j.ajhg.2022.08.003. Epub 2022 Aug 24. Am J Hum Genet. 2022. PMID: 36007526 Free PMC article. Review.
Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders by treatment before symptom onset. In many genetic diseases, however, outcomes remain poor because NBS has lagged behind drug development. Rapid whole-genome sequencing …
Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders by treatment before symptom onset. In many genet …
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, Pl… See abstract for full author list ➔ 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.
Genomic DNA was extracted from blood of participants and whole-exome sequenced. To find causative variants in known disorder-associated genes, all variants were filtered, and unreported variants were classified according to American College of Medical Genetics and Genomics …
Genomic DNA was extracted from blood of participants and whole-exome sequenced. To find causative variants in known disorder-associat …
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 …
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM, Chowdhury S, Moore B, Frise E, McCarthy J, Hernandez EJ, Wong T, James K, Guidugli L, Agrawal PB, Genetti CA, Brownstein CA, Beggs AH, Löscher BS, Franke A, Boone B, Levy SE, Õunap K, Pajusalu S, Huentelman M, Ramsey K, Naymik M, Narayanan V, Veeraraghavan N, Billings P, Reese MG, Yandell M, Kingsmore SF. De La Vega FM, et al. Genome Med. 2021 Oct 14;13(1):153. doi: 10.1186/s13073-021-00965-0. Genome Med. 2021. PMID: 34645491 Free PMC article.
BACKGROUND: Clinical interpretation of genetic variants in the context of the patient's phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases. Artificial intelligence (AI) holds promise to greatly simpl …
BACKGROUND: Clinical interpretation of genetic variants in the context of the patient's phenotype is becoming the largest component of cost …
The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants.
Smith HS, Zettler B, Genetti CA, Hickingbotham MR, Coleman TF, Lebo M, Nagy A, Zouk H, Mahanta L, Christensen KD, Pereira S, Shah ND, Gold NB, Walmsley S, Edwards S, Homayouni R, Krasan GP, Hakonarson H, Horowitz CR, Gelb BD, Korf BR, McGuire AL, Holm IA, Green RC. Smith HS, et al. Am J Hum Genet. 2024 Oct 3;111(10):2094-2106. doi: 10.1016/j.ajhg.2024.08.011. Epub 2024 Sep 16. Am J Hum Genet. 2024. PMID: 39288765
Efforts to implement and evaluate genome sequencing (GS) as a screening tool for newborns and infants are expanding worldwide. The first iteration of the BabySeq Project (2015-2019), a randomized controlled trial of newborn sequencing, produced …
Efforts to implement and evaluate genome sequencing (GS) as a screening tool for newborns and infants are expanding wor …
Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naive.
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 …
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 …
133 results