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Search life-sciences literature (45,104,145 articles, preprints and more)

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MPSE provides fast, flexible, and efficient means to identify newborns who will benefit from whole genome sequencing within the first 48 hours of NICU admission
Peterson B, Juarez EF, Moore B, Hernandez EJ, Frise E, Li J, Lussier Y, Tristani-Firouzi M, Reese MG, Jenkins SM, Kingsmore SF, Bainbridge MN, Yandell M
medRxiv, 05 Nov 2024
Cited by: 0 articles | PPR: PPR936000
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Early Newborn Metabolic Patterning and Sudden Infant Death Syndrome.
Oltman SP, Rogers EE, Baer RJ, Amsalu R, Bandoli G, Chambers CD, Cho H, Dagle JM, Karvonen KL, Kingsmore SF, McKenzie-Sampson S, Momany A, Ontiveros E, Protopsaltis LD, Rand L, Kobayashi ES, Steurer MA, Ryckman KK, Jelliffe-Pawlowski LL
JAMA Pediatr, 178(11):1183-1191, 01 Nov 2024
Cited by: 0 articles | PMID: 39250160
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Rapid Genome Sequencing Compared to a Gene Panel in Infants with a Suspected Genetic Disorder: An Economic Evaluation
Lavelle TA, Maron JL, Kingsmore SF, Lin C, Zhu Y, Sweigart B, Reed D, Gelb BD, Vockley J, Davis JM
medRxiv, 18 Oct 2024
Cited by: 0 articles | PPR: PPR927113
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Genomic mosaicism reveals developmental organization of trunk neural crest-derived ganglia
Vong KI, Alvarez YD, Noel G, Barton ST, Chung C, Howarth R, Meave N, Zhang Q, Jiwani F, Barrows C, Patel A, Wang JX, Chi N, Kingsmore SF, White MD, Yang X, Gleeson JG
bioRxiv, 26 Sep 2024
Cited by: 0 articles | PPR: PPR915981
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Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia.
Jones D, Hartung J, Lasalle E, Borquez A, Murillo V, Guidugli L, James KN, Kingsmore SF, Coufal NG
Life Sci Alliance, 7(8):e202402572, 22 May 2024
Cited by: 0 articles | PMID: 38777371 | PMCID: PMC11111969
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Rapid Whole-Genome Sequencing and Clinical Management in the PICU: A Multicenter Cohort, 2016-2023.
Rodriguez KM, Vaught J, Salz L, Foley J, Boulil Z, Van Dongen-Trimmer HM, Whalen D, Oluchukwu O, Liu KC, Burton J, Syngal P, Vargas-Shiraishi O, Kingsmore SF, Sanford Kobayashi E, Coufal NG
Pediatr Crit Care Med, 25(8):699-709, 26 Apr 2024
Cited by: 0 articles | PMID: 38668387
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Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain.
Chung C, Yang X, Hevner RF, Kennedy K, Vong KI, Liu Y, Patel A, Nedunuri R, Barton ST, Noel G, Barrows C, Stanley V, Mittal S, Breuss MW, Schlachetzki JCM, Kingsmore SF, Gleeson JG
Nature, 629(8011):384-392, 10 Apr 2024
Cited by: 6 articles | PMID: 38600385 | PMCID: PMC11194162
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The Plasma Lipidomic Landscape in Patients with Sepsis due to Community-acquired Pneumonia.
Chouchane O, Schuurman AR, Reijnders TDY, Peters-Sengers H, Butler JM, Uhel F, Schultz MJ, Bonten MJ, Cremer OL, Calfee CS, Matthay MA, Langley RJ, Alipanah-Lechner N, Kingsmore SF, Rogers A, van Weeghel M, Vaz FM, van der Poll T
Am J Respir Crit Care Med, 209(8):973-986, 01 Apr 2024
Cited by: 2 articles | PMID: 38240721
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Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
Jobanputra V, Schroeder B, Rehm HL, Shen W, Spiteri E, Nakouzi G, Taylor S, Marshall CR, Meng L, Kingsmore SF, Ellsworth K, Ashley E, Taft RJ, Medical Genome Initiative
NPJ Genom Med, 9(1):23, 27 Mar 2024
Cited by: 0 articles | PMID: 38538605 | PMCID: PMC10973466
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Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.
Kingsmore SF, Nofsinger R, Ellsworth K
NPJ Genom Med, 9(1):17, 27 Feb 2024
Cited by: 2 articles | PMID: 38413639 | PMCID: PMC10899612
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L, Larson A, Salz L, Veith R, Tsai JP, Jayakar A, Chapman R, Gupta A, Kingsmore SF, Dimmock D, Bedrick A, Galindo MK, Casas K, Mohamed M, Straight L, Khan MA, Salyakina D
Front Pediatr, 12:1349519, 19 Feb 2024
Cited by: 0 articles | PMID: 38440187 | PMCID: PMC10909823
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The contribution of de novo coding mutations to meningomyelocele
Ha Y, Tang I, Nisal A, Jhamb I, Wallace C, Schroeder S, Lee C, Vong Kl, Meave N, Jiwani F, Barrows C, Lee S, Jiang N, Patel A, Blanco FA, Yu S, Jeong HS, Plutzer I, Major MB, [...] Gleeson JG
medRxiv, 02 Mar 2024
Cited by: 0 articles | PPR: PPR814013
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Genomic surveillance reveals dynamic shifts in the connectivity of COVID-19 epidemics.
Matteson NL, Hassler GW, Kurzban E, Schwab MA, Perkins SA, Gangavarapu K, Levy JI, Parker E, Pride D, Hakim A, De Hoff P, Cheung W, Castro-Martinez A, Rivera A, Veder A, Rivera A, Wauer C, Holmes J, Wilson J, [...] Zeller M
Cell, 186(26):5690-5704.e20, 14 Dec 2023
Cited by: 1 article | PMID: 38101407
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NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.
Chan K, Hu Z, Bush LW, Cope H, Holm IA, Kingsmore SF, Wilhelm K, Scharfe C, Brower A
Int J Neonatal Screen, 9(4):63, 30 Oct 2023
Cited by: 8 articles | PMID: 37987476 | PMCID: PMC10660757
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Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations.
James KN, Chowdhury S, Ding Y, Batalov S, Watkins K, Kwon YH, Van Der Kraan L, Ellsworth K, Kingsmore SF, Guidugli L
Genet Med, 26(1):101006, 20 Oct 2023
Cited by: 0 articles | PMID: 37869996
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Assessing Diversity in Newborn Genomic Sequencing Research Recruitment: Race/Ethnicity and Primary Spoken Language Variation in Eligibility, Enrollment, and Reasons for Declining.
Cakici JA, Dimmock D, Caylor S, Gaughran M, Clarke C, Triplett C, Clark MM, Kingsmore SF, Bloss CS
Clin Ther, 45(8):736-744, 08 Jul 2023
Cited by: 4 articles | PMID: 37429778
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Response to Grosse et al.
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, [...] Defay T
Am J Hum Genet, 110(6):1017, 01 Jun 2023
Cited by: 1 article | PMID: 37267897 | PMCID: PMC10256999
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Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning.
Peterson B, Hernandez EJ, Hobbs C, Malone Jenkins S, Moore B, Rosales E, Zoucha S, Sanford E, Bainbridge MN, Frise E, Oriol A, Brunelli L, Kingsmore SF, Yandell M
Genome Med, 15(1):18, 16 Mar 2023
Cited by: 10 articles | PMID: 36927505 | PMCID: PMC10018992
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Genomic surveillance reveals dynamic shifts in the connectivity of COVID-19 epidemics
Matteson NL, Hassler GW, Kurzban E, Schwab MA, Perkins SA, Gangavarapu K, Levy JI, Parker E, Pride D, Hakim A, Hoff PD, Cheung W, Castro-Martinez A, Rivera A, Veder A, Rivera A, Wauer C, Holmes J, Wilson J, [...] Zeller M
medRxiv, 19 Mar 2023
Cited by: 0 articles | PPR: PPR632907
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This article is in the Europe PMC Open access subset. Refer to the copyright information in the article for licensing details.
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Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system.
Allred ET, Perens EA, Coufal NG, Sanford Kobayashi E, Kingsmore SF, Dimmock DP
Front Pediatr, 11:1157630, 14 Mar 2023
Cited by: 3 articles | PMID: 36999085 | PMCID: PMC10043482
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Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.
Ding Y, Owen M, Le J, Batalov S, Chau K, Kwon YH, Van Der Kraan L, Bezares-Orin Z, Zhu Z, Veeraraghavan N, Nahas S, Bainbridge M, Gleeson J, Baer RJ, Bandoli G, Chambers C, Kingsmore SF
NPJ Genom Med, 8(1):5, 14 Feb 2023
Cited by: 7 articles | PMID: 36788231 | PMCID: PMC9929090
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Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.
Owen MJ, Wright MS, Batalov S, Kwon Y, Ding Y, Chau KK, Chowdhury S, Sweeney NM, Kiernan E, Richardson A, Batton E, Baer RJ, Bandoli G, Gleeson JG, Bainbridge M, Chambers CD, Kingsmore SF
JAMA Netw Open, 6(2):e2254069, 01 Feb 2023
Cited by: 13 articles | PMID: 36757698 | PMCID: PMC9912130
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The Genomic landscape of short tandem repeats across multiple ancestries.
Vijayaraghavan P, Batalov S, Ding Y, Sanford E, Kingsmore SF, Dimmock D, Hobbs C, Bainbridge M
PLoS One, 18(1):e0279430, 26 Jan 2023
Cited by: 3 articles | PMID: 36701310 | PMCID: PMC9879404
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Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Wigby K, Hammer M, Tokita M, Patel P, Jones MC, Larson A, Bartolomei FV, Dykzeul N, Slavotinek A, Yip T, Bandres-Ciga S, Simpson BN, Suhrie K, Shankar S, Veith R, Bragg J, Powell C, Kingsmore SF, Dimmock D, [...] Del Campo M
Am J Med Genet A, 191(4):930-940, 18 Jan 2023
Cited by: 0 articles | PMID: 36651673
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Rapid Whole Genome Sequencing for Diagnosis of Single Locus Genetic Diseases in Critically Ill Children.
Owen MJ, Batalov S, Ellsworth KA, Wright M, Breeding S, Hugh K, Kingsmore SF, Ding Y
Methods Mol Biol, 2621:217-239, 01 Jan 2023
Cited by: 2 articles | PMID: 37041447
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1-25 of 221 results

1 2 3 Next ...

Search life-sciences literature (45,104,145 articles, preprints and more)

Search results

MPSE provides fast, flexible, and efficient means to identify newborns who will benefit from whole genome sequencing within the first 48 hours of NICU admission

Early Newborn Metabolic Patterning and Sudden Infant Death Syndrome.

Rapid Genome Sequencing Compared to a Gene Panel in Infants with a Suspected Genetic Disorder: An Economic Evaluation

Genomic mosaicism reveals developmental organization of trunk neural crest-derived ganglia

Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardia.

Rapid Whole-Genome Sequencing and Clinical Management in the PICU: A Multicenter Cohort, 2016-2023.

Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain.

The Plasma Lipidomic Landscape in Patients with Sepsis due to Community-acquired Pneumonia.

Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.

Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.

Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.

The contribution of de novo coding mutations to meningomyelocele

Genomic surveillance reveals dynamic shifts in the connectivity of COVID-19 epidemics.

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.

Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations.

Assessing Diversity in Newborn Genomic Sequencing Research Recruitment: Race/Ethnicity and Primary Spoken Language Variation in Eligibility, Enrollment, and Reasons for Declining.

Response to Grosse et al.

Automated prioritization of sick newborns for whole genome sequencing using clinical natural language processing and machine learning.

Genomic surveillance reveals dynamic shifts in the connectivity of COVID-19 epidemics

Genomic sequencing has a high diagnostic yield in children with congenital anomalies of the heart and urinary system.

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.

Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing.

The Genomic landscape of short tandem repeats across multiple ancestries.

Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.

Rapid Whole Genome Sequencing for Diagnosis of Single Locus Genetic Diseases in Critically Ill Children.

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