The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index; none of the 20 sources its claims cite is checked for support yet.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
Open accessAbstract
Importance: Widespread adoption of rapid genomic testing in pediatric critical care requires robust clinical and laboratory pathways that provide equitable and consistent service across health care systems. Objective: To prospectively evaluate the performance of a multicenter network for ultra-rapid genomic diagnosis in a public health care system. Design, Setting, and Participants: Descriptive feasibility study of critically ill pediatric patients with suspected monogenic conditions treated at 12 Australian hospitals between March 2018 and February 2019, with data collected to May 2019. A formal implementation strategy emphasizing communication and feedback, standardized processes, coordination, distributed leadership, and collective learning was used to facilitate adoption. Exposures: Ultra-rapid exome sequencing. Main Outcomes and Measures: The primary outcome was time from sample receipt to ultra-rapid exome sequencing report. The secondary outcomes were the molecular diagnostic yield, the change in clinical management after the ultra-rapid exome sequencing report, the time from hospital admission to the laboratory report, and the proportion of laboratory reports returned prior to death or hospital discharge. Results: The study population included 108 patients with a median age of 28 days (range, 0 days to 17 years); 34% were female; and 57% were from neonatal intensive care units, 33% were from pediatric intensive care units, and 9% were from other hospital wards. The mean time from sample receipt to ultra-rapid exome sequencing report was 3.3 days (95% CI, 3.2-3.5 days) and the median time was 3 days (range, 2-7 days). The mean time from hospital admission to ultra-rapid exome sequencing report was 17.5 days (95% CI, 14.6-21.1 days) and 93 reports (86%) were issued prior to death or hospital discharge. A molecular diagnosis was established in 55 patients (51%). Eleven diagnoses (20%) resulted from using the following approaches to augment standard exome sequencing analysis: mitochondrial genome sequencing analysis, exome sequencing-based copy number analysis, use of international databases to identify novel gene-disease associations, and additional phenotyping and RNA analysis. In 42 of 55 patients (76%) with a molecular diagnosis and 6 of 53 patients (11%) without a molecular diagnosis, the ultra-rapid exome sequencing result was considered as having influenced clinical management. Targeted treatments were initiated in 12 patients (11%), treatment was redirected toward palliative care in 14 patients (13%), and surveillance for specific complications was initiated in 19 patients (18%). Conclusions and Relevance: This study suggests feasibility of ultra-rapid genomic testing in critically ill pediatric patients with suspected monogenic conditions in the Australian public health care system. However, further research is needed to understand the clinical value of such testing, and the generalizability of the findings to other health care settings.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
34 Own result · 14 Not checked yet · 8 Own interpretation · 7 Own method · 1 No basis given
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The study population included 108 patients”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plainn = 108- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: unclear — It is unclear whether the paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“surveillance for specific complications was initiated in 19 patients (18%)”
- Also stated in: § Changes in Clinical Management After the Ultra-Rapid Exome Sequencing Report and Perceived Utility · plain
“including targeted surveillance to identify complications of the condition in 19 patients (18%)”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plainn = 19- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: unclear — It is unclear whether the paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
- Also stated in: § Changes in Clinical Management After the Ultra-Rapid Exome Sequencing Report and Perceived Utility · plain
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“One patient with pontocerebellar hypoplasia was found to have an unbalanced translocation on concurrent chromosomal microarray, and was not included in the ultra-rapid exome sequencing diagnostic”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Molecular Diagnostic Yield
plainSingle case- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: unclear — It is unclear whether the paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“In 42 of 55 patients (76%) with a molecular diagnosis and 6 of 53 patients (11%) without a molecular diagnosis, the ultra-rapid exome sequencing result was considered as having influenced clinical management.”
- Also stated in: § Changes in Clinical Management After the Ultra-Rapid Exome Sequencing Report and Perceived Utility · plain
“Among the 53 patients who did not receive a molecular diagnosis through ultra-rapid exome sequencing, 6 (11%) were considered as having had a change in clinical management”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plaindirectn = 53- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
- Also stated in: § Changes in Clinical Management After the Ultra-Rapid Exome Sequencing Report and Perceived Utility · plain
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“93 reports (86%) were issued prior to death or hospital discharge”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“treatment was redirected toward palliative care in 14 patients (13%)”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plainn = 14- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: unclear — It is unclear whether the paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Among 3 of the 10 patients enrolled from other hospi- tal wards, the molecular diagnostic yield was 30% (95% CI, 0%-50%).”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Molecular Diagnostic Yield
plainn = 10- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: unclear — It is unclear whether the paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“In 42 of 55 patients (76%) with a molecular diagnosis and 6 of 53 patients (11%) without a molecular diagnosis, the ultra-rapid exome sequencing result was considered as having influenced clinical management.”
- Also stated in: § Changes in Clinical Management After the Ultra-Rapid Exome Sequencing Report and Perceived Utility · plain
“Among the 55 patients receiving a molecular diagnosis, 42 (76%) were considered as having had a subsequent change in clinical management”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plaindirectn = 55- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
- Also stated in: § Changes in Clinical Management After the Ultra-Rapid Exome Sequencing Report and Perceived Utility · plain
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Among 17 of the 36 patients enrolled from the PICU, the molecular diagnostic yield was 47.0% (95% CI, 27.8%-66.1%).”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Molecular Diagnostic Yield
plainn = 36- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Eleven diagnoses (20%) resulted from using the following approaches to augment standard exome sequencing analysis: mitochondrial genome sequencing analysis, exome sequencing-based copy number analysis, use of international databases to identify novel gene-disease associations, and additional phenotyping and RNA analysis.”
- Also stated in: § Discussion · plain
“Twenty percent of the molecular diagnoses were made using approaches that extend usual clinical exome sequencing diagnostic practice, including mitochondrial genome sequencing, identification of single-gene copy number variants from exome sequencing data, real-time use of international databases to establish novel gene-disease associations, RNA studies, and additional phenotyping.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plaindirectn = 55- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
- Also stated in: § Discussion · plain
- Probably not a substantial claim. 14
- It may state two separate claims as one. 18
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“34% were female”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plainn = 108- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The median age of participants was 28 days (range, 0 days-17 years)”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Participant Demographics and Indications for Testing
plainn = 108- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“the median time was 3 days (range, 2-7 days)”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
It may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Laboratory 1 performed 94 tests and laboratory 2 performed 14 tests.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Primary End Point: Time From Sample Receipt to Ultra-Rapid Exome Sequencing Report
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Routine ultra-rapid exome sequencing trio analyses resulted in 45 molecular diagnoses, with an additional 11 molecular diagnoses made through”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Molecular Diagnostic Yield
plaindirectn = 55- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
It may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The mean sample transportation time was 1.6 days (95% CI, 1.4-1.9days) despite the furthest hospital being 1600 km away from the laboratory site.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Primary End Point: Time From Sample Receipt to Ultra-Rapid Exome Sequencing Report
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
It may state two separate claims as one.
None of the sources cited for this claim have been checked yet.
In the paper
“Two further molecular diagnoses were made by submitting novel gene candidates to GeneMatcher 18 (an international data sharing platform) and matching to multiple other cases in real time, enabling establishment of novel genedisease associations and diagnostic reporting.19”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Molecular Diagnostic Yield
What the sources say
- Not checked yetcites [18] Sobreira, 2015, GeneMatcher: a matching tool for connecting investigators with an interest in the same gene., Hum Mutat source
- Not checked yetcites [19] Rehman, 2019, Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function., Hum Mutat source
plaindirect- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
It may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“Of these 11 molecular diagnoses, 7 were made as part of the original analysis, including 3 through hypothesis-driven identification of copy number variants affecting single genes from the exome sequencing data”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Molecular Diagnostic Yield
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: unclear — It is unclear whether the paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
It may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“A molecular diagnosis was established in 55 patients (51%).”
- Also stated in: § Molecular Diagnostic Yield · plain
“A total of 56 molecular diagnoses were made for 55 patients (51%)”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Abstract
plainn = 55- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
It may state two separate claims as one.
- Also stated in: § Molecular Diagnostic Yield · plain
In the paper
“Rapid RNA studies confirmed the pathogenicity of a homozygous splicesite ASNS variant in 10 days, and 2 other variants of uncertain significance were reclassified as likely pathogenic after further phenotyping during a period of 6 months.22”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Molecular Diagnostic Yield
What the sources say
- Not checked yetcites [22] Richmond, 2020, Rapid identification of biallelic SPTB mutation in a neonate with severe congenital hemolytic anemia and liver failiure., Mol Syndromol source
plaindirect- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
It may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“62 patients (57%) were admitted to NICUs, 36 patients (33%) were admitted to PICUs, and 10 patients (9%) were from other hospital wards.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Participant Demographics and Indications for Testing
plainn = 108- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
A result the paper reports from its own data — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“The 2 laboratories together were able to provide consistent service based on clinical demand, with 94% of tests reported before the target time of 5 calendar days.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Discussion
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
It may state two separate claims as one.
In the paper
“A greater proportion of reports were returned prior to hospital discharge or death and the reports formed part of the palliative care decisions in a greater proportion of the patients who died.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Discussion
What the sources say
- Not checked yetcites [8] Stark, 2018, Meeting the challenges of implementing rapid genomic testing in acute pediatric care., Genet Med source
plaincorrelationaln = 108- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
It may state two separate claims as one.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“No patients were lost to follow-up and all data collection was complete.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Statistical Analysis
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
In the paper
“the successful spread and scaling up of innovations in health care systems is complex, and necessitates both structure and adaptability to the local context, benefitting from a participatory culture, distributed leadership, transparent assessment of outcomes, collective learning, and adaptation.10”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > M
What the sources say
- Not checked yetcites [10] Greenhalgh, 2019, Spreading and scaling up innovation and improvement., BMJ source
plaindirect- Asserted: passes — The authors put it forward as true.
- Checkable: fails — It may be too vague to check against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. It may be too vague to check against evidence. The paper’s conclusions may not depend on it. It may state two separate claims as one.
In the paper
“Developing purposeful implementation strategies that recognize the iterative, nonlinear, and multicomponent nature of change has the potential to streamline the process of scaling up rapid diagnostic programs across health care systems, preventing costly trial and error at multiple sites.11”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > M
What the sources say
- Not checked yetcites [11] Braithwaite, 2018, When complexity science meets implementation science: a theoretical and empirical analysis of systems change., BMC Med source
hedgedconditional- Asserted: passes — The authors put it forward as true.
- Checkable: fails — It may be too vague to check against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. It may be too vague to check against evidence. The paper’s conclusions may not depend on it.
In the paper
“Variants relevant to patient phenotype were classified based on the standards of the American College of Medical Genetics and Genomics. 16”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Exome Sequencing, Data Analysis, and Interpretation
What the sources say
- Not checked yetcites [16] Richards, 2015, Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology., Genet Med source
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim.
None of the sources cited for this claim have been checked yet.
In the paper
“Although studies of rapid genomic testing have primarily included infants in neonatal intensive care units (NICUs), 1,[3][4][5]9 a minority of studies have included other critically ill children such as those in pediatric intensive care units (PICUs).2,[6][7][8]”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > M
What the sources say
- Not checked yetcites 1,[3][4][5]9
- Not checked yetcites 2,[6][7][8]
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“which may be partly explained by the uneven distribution of the Australian population and the transfer of complex patients to specialist pediatric hospitals.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Discussion
hedgedconditional- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“all clinical and laboratory services participated on a voluntary basis”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Limitations
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it.
A conclusion the paper draws from its own results — it cites no other source for it, so there is none to check. The quote shows it is in the paper.
In the paper
“It may also partly represent different levels of clinician engagement, prior experience, and perceptions of utility at different sites.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Discussion
hedgedconditional- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it.
In the paper
“rapid genomic testing challenges all the components of the clinical and laboratory pathway, necessitating timely patient identification, skilled assessment, appropriate counseling, and a high degree of communication and coordination in emotionally charged and rapidly evolving clinical situations.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Discussion
What the sources say
- Not checked yetcites [8] Stark, 2018, Meeting the challenges of implementing rapid genomic testing in acute pediatric care., Genet Med source
plaindirect- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it. It may state two separate claims as one.
What the paper did — it cites no source for this, so there is none to check. The quote shows it is in the paper.
In the paper
“the service delivery model implemented was led by the clinical genetics service as per participating center preferences.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Limitations
plaindirect- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: fails — The paper’s conclusions may not depend on it.
- Based: passes — The paper gives a reason why it holds.
Probably not a substantial claim. The paper’s conclusions may not depend on it.
None of the sources cited for this claim have been checked yet.
In the paper
“The lack of health care funding, the underpreparedness of the pediatric workforce, and the resource-intensive nature of rapid testing represent significant barriers to widespread adoption.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Discussion
What the sources say
- Not checked yetcites [8] Stark, 2018, Meeting the challenges of implementing rapid genomic testing in acute pediatric care., Genet Med source
- Not checked yetcites [14] Stark, 2019, Attitudes of Australian health professionals towards rapid genomic testing in neonatal and paediatric intensive care., Eur J Hum Genet source
- Not checked yetcites [23] Clark, 2019, Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation., Sci Transl Med source
plaindirect- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: passes — The paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
It may state two separate claims as one.
None of the sources cited for this claim have been checked yet.
In the paper
“there is no consensus on how to evaluate rapid testing programs or what evidentiary threshold should be used for health care system funding.”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Limitations
What the sources say
plain- Asserted: passes — The authors put it forward as true.
- Checkable: passes — It can be checked against evidence.
- Load-bearing: unclear — It is unclear whether the paper’s conclusions depend on it.
- Based: passes — The paper gives a reason why it holds.
It may state two separate claims as one.
The paper relies on this without support.
In critical care, genomic test results must be delivered quickly to be clinically useful.
“In the critical care setting, genomic testing results need to be delivered rapidly to be useful”
The paper relies on this without support.
Mean turnaround times for early rapid testing programs have been between 7 and 23 days.
“the mean turnaround times achieved by nascent rapid testing programs have ranged from 7 to 23 days.”
The paper relies on this without support.
Moving academic single-center rapid genomic testing into health care system implementation requires robust clinical and laboratory pathways for reliable and consistent delivery.
“Translating the experience of academic single-center studies into implementation across health care systems requires the development of robust clinical and laboratory pathways to deliver rapid genomic testing reliably and consistently.”
The paper relies on this without support.
Health care is a complex adaptive system.
“Health care is a complex adaptive system”
The paper relies on this without support.
Successful adoption of rapid genomic testing depends on multidisciplinary teams changing practices across multiple sites, not only on laboratory scalability.
“the successful adoption of innovations such as rapid genomic testing relies not only on the scalability of the laboratory testing, but on the multidisciplinary teams of intensive care physicians, medical subspecialists, clinical geneticists, genetic counselors, laboratory scientists, and bioinformaticians simultaneously changing practices across multiple sites to provide consistent service.”
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“From diagnosis, families experience considerable grief and need intense support as the disease evolves 160,161 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [161]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
Each contradiction between two passages listed here was confirmed by an independent check.
Rated major: it would touch a result — a value a result rests on, reported and recomputed p-values on opposite sides of the significance level, two passages that conflict with no sign which is right, or a cited work retracted before this paper was published.
In the paper
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Changes in Clinical Management After the Ultra-Rapid Exome Sequencing Report and Perceived Utility
“After the ultra-rapid exome sequencing report, changes in clinical management were identified by clinicians for 48 of 108 patients (44%).”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Changes in Clinical Management After the Ultra-Rapid Exome Sequencing Report and Perceived Utility
“Changes in clinical management were considered as having occurred in 35 of 62 patients (56%) from the NICU and in 17 of 36 patients (47%) from the PICU.”
Rated minor: it would not touch a result — a value no result rests on, a p-value that stays on the same side of the significance level, or a conflict that is clerical, resolved elsewhere in the paper, or outside its own findings.
In the paper
“Among 51 of the 93 patients approved by all the expert panel members, the molecular diagnostic yield was 57.0% (95% CI, 43.0%-63.4%).”
§ Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System Australian Genomics Health Alliance Acute Care Flagship > Molecular Diagnostic Yield
Reported 57 · recomputed 54.83871
Citations
Cites
Harris, P. A., Taylor, R., Thielke, R., Payne, J., Gonzalez, N., & Conde, J. G. (2009) · Journal of Biomedical Informatics · doi:10.1016/j.jbi.2008.08.010 · Cited by 51,384
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594
Damschroder, L. J., Aron, D. C., Keith, R. E., Kirsh, S. R., Alexander, J. A., & Lowery, J. C. (2009) · Implementation Science · doi:10.1186/1748-5908-4-50 · Cited by 14,496
Curran, G. M., Bauer, M., Mittman, B., Pyne, J. M., & Stetler, C. (2012) · Medical Care · doi:10.1097/mlr.0b013e3182408812 · Cited by 4,058
GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Sobreira, N., Schiettecatte, F., Valle, D., & Hamosh, A. (2015) · Human Mutation · doi:10.1002/humu.22844 · Cited by 1,529
Braithwaite, J., Churruca, K., Long, J. C., Ellis, L. A., & Herkes, J. (2018) · BMC Medicine · doi:10.1186/s12916-018-1057-z · Cited by 845
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization
Farnaes, L., Hildreth, A., Sweeney, N. M., Clark, M. M., Chowdhury, S., Nahas, S., Cakici, J. A., Benson, W., Kaplan, R. H., Kronick, R., et al. (2018) · npj Genomic Medicine · doi:10.1038/s41525-018-0049-4 · Cited by 445
Use of Exome Sequencing for Infants in Intensive Care Units
Meng, L., Pammi, M., Saronwala, A., Magoulas, P. L., Ghazi, A. R., Vetrini, F., Zhang, J., He, W., Dharmadhikari, A. V., Qu, C., et al. (2017) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/jamapediatrics.2017.3438 · Cited by 429
Spreading and scaling up innovation and improvement
Greenhalgh, T., & Papoutsi, C. (2019) · BMJ · doi:10.1136/bmj.l2068 · Cited by 382
Kingsmore, S. F., Cakici, J. A., Clark, M. M., Gaughran, M., Feddock, M., Batalov, S., Bainbridge, M. N., Carroll, J. M., Caylor, S. A., Clarke, C., et al. (2019) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2019.08.009 · Cited by 354
Self-citation
Cited by
Sorted by citations
Dimmock, D., Caylor, S. A., Waldman, B. M., Benson, W., Ashburner, C., Carmichael, J., Carroll, J. M., Cham, E. M., Chowdhury, S., Cleary, J. P., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.05.008 · Cited by 259
Genomic newborn screening for rare diseases
Stark, Z., & Scott, R. H. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-023-00621-w · Cited by 240
Self-citationThe NICUSeq Study Group, Krantz, I. D., Medne, L., Weatherly, J., Wild, K. T., Biswas, S., Devkota, B., Hartman, T. R., Brunelli, L., Fishler, K. P., et al. (2021) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/jamapediatrics.2021.3496 · Cited by 175
Integrated multi-omics for rapid rare disease diagnosis on a national scale
Lunke, S., Bouffler, S. E., Patel, C., Sandaradura, S. A., Wilson, M., Pinner, J. R., Hunter, M. F., Barnett, C., Wallis, M., Kamien, B., et al. (2023) · Nature Medicine · doi:10.1038/s41591-023-02401-9 · Cited by 155
Self-citationKnowles, J. K., Helbig, I., Metcalf, C. S., Lubbers, L. S., Isom, L. L., Demarest, S., Goldberg, E. M., George, A. L., Lerche, H., Weckhuysen, S., et al. (2022) · Epilepsia · doi:10.1111/epi.17332 · Cited by 155
Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
Wojcik, M. H., Reuter, C. M., Marwaha, S., Mahmoud, M., Duyzend, M., Barseghyan, H., Yuan, B., Boone, P. M., Groopman, E., Délot, E. C., et al. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.06.009 · Cited by 143
Self-citationDevelopmental and epileptic encephalopathies
Scheffer, I. E., Zuberi, S., Mefford, H. C., Guerrini, R., & McTague, A. (2024) · Nature Reviews Disease Primers · doi:10.1038/s41572-024-00546-6 · Cited by 158
Accelerated identification of disease-causing variants with ultra-rapid nanopore genome sequencing
Goenka, S. D., Gorzynski, J. E., Shafin, K., Fisk, D. G., Pesout, T., Jensen, T. D., Monlong, J., Chang, P.-C., Baid, G., Bernstein, J. A., et al. (2022) · Nature Biotechnology · doi:10.1038/s41587-022-01221-5 · Cited by 112
Towards improved genetic diagnosis of human differences of sex development
Délot, E. C., & Vilain, E. J. N. (2021) · Nature Reviews Genetics · doi:10.1038/s41576-021-00365-5 · Cited by 104
Bournazos, A., Riley, L. G., Bommireddipalli, S., Adès, L. C., Akesson, L. S., Al-Shinnag, M., Alexander, S. I., Archibald, A. D., Balasubramaniam, S., Berman, Y. D., et al. (2021) · Genetics in Medicine · doi:10.1016/j.gim.2021.09.001 · Cited by 99
Self-citationThe Role of Genome Sequencing in Neonatal Intensive Care Units
Kingsmore, S. F., & Cole, F. S. (2022) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-120921-103442 · Cited by 101
Chung, C. C. Y., Hue, S. P. Y., Ng, N. Y. T., Doong, P. H. L., Chu, A. T.-W., & Chung, B. H. (2023) · Genetics in Medicine · doi:10.1016/j.gim.2023.100896 · Cited by 99
Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review
Kingsmore, S. F., Nofsinger, R. R., & Ellsworth, K. (2024) · npj Genomic Medicine · doi:10.1038/s41525-024-00404-0 · Cited by 94
Stark, Z., Boughtwood, T. F., Haas, M., Braithwaite, J., Gaff, C., Goranitis, I., Spurdle, A. B., Hansen, D. P., Hofmann, O., Laing, N. G., et al. (2023) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.01.018 · Cited by 82
Self-citationClinical implications of host genetic variation and susceptibility to severe or critical COVID-19
van der Made, C. I., Netea, M. G., van de Veerdonk, F. L., & Hoischen, A. (2022) · Genome Medicine · doi:10.1186/s13073-022-01100-3 · Cited by 81
Sweeney, N. M., Nahas, S., Chowdhury, S., Batalov, S., Clark, M. M., Caylor, S. A., Cakici, J. A., Nigro, J. J., Ding, Y., Veeraraghavan, N., et al. (2021) · npj Genomic Medicine · doi:10.1038/s41525-021-00192-x · Cited by 74
Rapid genomic testing for critically ill children: time to become standard of care?
Stark, Z., & Ellard, S. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-021-00990-y · Cited by 72
Self-citationArtificial Intelligence in Cardiac Surgery: Transforming Outcomes and Shaping the Future
Leivaditis, V., Beltsios, E. T., Papatriantafyllou, A., Grapatsas, K., Mulita, F., Kontodimopoulos, N., Baikoussis, N. G., Tchabashvili, L., Tasios, K., Maroulis, I., et al. (2025) · Clinics and Practice · doi:10.3390/clinpract15010017 · Cited by 74
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Byrne, A. B., Arts, P., Ha, T., Kassahn, K. S., Pais, L. S., O’Donnell‐Luria, A., Aguet, F., Arachchi, H., Austin-Tse, C. A., Babb, L., et al. (2023) · Nature Medicine · doi:10.1038/s41591-022-02142-1 · Cited by 69
Self-citationRoberts, M. C., Fohner, A. E., Landry, L. G., Olstad, D. L., Smit, A. K., Turbitt, E., & Allen, C. G. (2021) · Genome Medicine · doi:10.1186/s13073-021-00911-0 · Cited by 67
Franck, L. S., Kriz, R. M., Rego, S., Garman, K., Hobbs, C., & Dimmock, D. (2021) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2021.05.045 · Cited by 59
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi‐omic pipelines
Alston, C. L., Stenton, S. L., Hudson, G., Prokisch, H., & Taylor, R. W. (2021) · The Journal of Pathology · doi:10.1002/path.5641 · Cited by 60
Lumaka, A. Z., Carstens, N., Devriendt, K., Krause, A., Kulohoma, B. W., Kumuthini, J., Mubungu, G. L., Mukisa, J., Nel, M., Olanrewaju, T. O., et al. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02391-w · Cited by 56
Stolz, J. R., Foote, K. M., Veenstra‐Knol, H. E., Pfundt, R., ten Broeke, S. W., de Leeuw, N., Roht, L., Pajusalu, S., Part, R., Rebane, I., et al. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.07.007 · Cited by 53
Self-citationPandey, R., Brennan, N. F., Trachana, K., Katsandres, S. C., Bodamer, O. A., Belmont, J. W., Veenstra, D. L., & Peng, S. (2025) · Genetics in Medicine · doi:10.1016/j.gim.2025.101398 · Cited by 56
Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases
Jayasinghe, K., Wu, Y., Stark, Z., Kerr, P. G., Mallett, A. J., Gaff, C., Martyn, M. M., Goranitis, I., & Quinlan, C. (2021) · Kidney International Reports · doi:10.1016/j.ekir.2021.08.028 · Cited by 49
Self-citationGenome sequencing as a generic diagnostic strategy for rare disease
Schobers, G., Derks, R. C., den Ouden, A., Swinkels, H. L., van Reeuwijk, J., Bosgoed, E., Lugtenberg, D., Sun, S. M., Corominas, J., Weiss, M. M., et al. (2024) · Genome Medicine · doi:10.1186/s13073-024-01301-y · Cited by 50
Goranitis, I., Wu, Y., Lunke, S., White, S. M., Tan, T. Y., Yeung, A., Hunter, M. F., Martyn, M. M., Gaff, C., & Stark, Z. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.01.013 · Cited by 49
Self-citationParental experiences of ultrarapid genomic testing for their critically unwell infants and children
Brett, G. R., Martyn, M., Lynch, F., de Silva, M. G., Ayres, S., Gallacher, L., Boggs, K., Baxendale, A., Schenscher, S., King-Smith, S., et al. (2020) · Genetics in Medicine · doi:10.1038/s41436-020-0912-4 · Cited by 47
Self-citationLearning from scaling up ultra-rapid genomic testing for critically ill children to a national level
Best, S., Brown, H. L., Lunke, S., Patel, C., Pinner, J. R., Barnett, C., Wilson, M., Sandaradura, S. A., McClaren, B., Brett, G. R., et al. (2021) · npj Genomic Medicine · doi:10.1038/s41525-020-00168-3 · Cited by 47
Self-citationMulticenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review
Morton, S. U., Christodoulou, J., Costain, G., Muntoni, F., Wakeling, E. L., Wojcik, M. H., French, C. E., Szuto, A., Dowling, J. J., Cohn, R. D., et al. (2022) · JAMA Neurology · doi:10.1001/jamaneurol.2022.0067 · Cited by 47
Self-citationReclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing
Owen, M. J., Wright, M. S., Batalov, S., Kwon, Y., Ding, Y., Chau, K. K., Chowdhury, S., Sweeney, N. M., Kiernan, E. A., Richardson, A. C., et al. (2023) · JAMA Network Open · doi:10.1001/jamanetworkopen.2022.54069 · Cited by 45
Integrating rapid exome sequencing into NICU clinical care after a pilot research study
D’Gama, A. M., del Rosario, M. C., Bresnahan, M., Yu, T. W., Wojcik, M. H., & Agrawal, P. B. (2022) · npj Genomic Medicine · doi:10.1038/s41525-022-00326-9 · Cited by 39
Regrow or Repair: An Update on Potential Regenerative Therapies for the Kidney
Little, M. H., & Humphreys, B. D. (2021) · Journal of the American Society of Nephrology · doi:10.1681/asn.2021081073 · Cited by 40
Measures of Utility Among Studies of Genomic Medicine for Critically Ill Infants
Callahan, K. P., Mueller, R., Flibotte, J. J., Largent, E. A., & Feudtner, C. (2022) · JAMA Network Open · doi:10.1001/jamanetworkopen.2022.25980 · Cited by 37
Scholz, T., Blohm, M. E. G., Kortüm, F., Bierhals, T., Lessel, D., van der Ven, A. T., Lisfeld, J., Herget, T., Kloth, K., Singer, D., et al. (2021) · Neonatology · doi:10.1159/000516890 · Cited by 35
Rapid genome sequencing for pediatrics
Jezkova, J., Shaw, S., Taverner, N. V., & Williams, H. J. (2022) · Human Mutation · doi:10.1002/humu.24466 · Cited by 32
Giorgio, A. D., Bartolini, E., Calvo, P. L., Cananzi, M., Cirillo, F., Corte, C. D., Dionisi‐Vici, C., Indolfi, G., Iorio, R. F., Maggiore, G., et al. (2021) · Digestive and Liver Disease · doi:10.1016/j.dld.2021.03.004 · Cited by 31
Rapid Whole-Genome Sequencing and Clinical Management in the PICU: A Multicenter Cohort, 2016–2023*
Rodriguez, K. M., Vaught, J., Salz, L., Foley, J., Boulil, Z., VanDongen-Trimmer, H., Whalen, D., Oluchukwu, O., Liu, K. C., Burton, J., et al. (2024) · Pediatric Critical Care Medicine · doi:10.1097/pcc.0000000000003522 · Cited by 31
Diagnosis and Care of the Newborn with Epidermolysis Bullosa
Lucky, A. W., Whalen, J., Rowe, S., Marathe, K. S., & Gorell, E. S. (2021) · NeoReviews · doi:10.1542/neo.22-7-e438 · Cited by 30
Suzuki, H., Nozaki, M., Yoshihashi, H., Imagawa, K., Kajikawa, D., Yamada, M., Yamaguchi, Y., Morisada, N., Eguchi, M., Ohashi, S., et al. (2022) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2022.01.033 · Cited by 30
Keizer, R. A. C. M. O., Marouane, A., Kerstjens‐Frederikse, W. S., Deden, A. C., Lichtenbelt, K. D., Jonckers, T., Vervoorn, M., Vreeburg, M., Henneman, L., de Vries, L. S., et al. (2023) · European Journal of Pediatrics · doi:10.1007/s00431-023-04909-1 · Cited by 30
Akesson, L. S., Eggers, S., Love, C. J., Chong, B., Krzesinski, E. I., Brown, N. J., Tan, T. Y., Richmond, C. M., Thorburn, D. R., Christodoulou, J., et al. (2019) · European Journal of Human Genetics · doi:10.1038/s41431-019-0477-3 · Cited by 28
Self-citationHock, D. H., Caruana, N. J., Semcesen, L. N., Lake, N. J., Formosa, L. E., Amarasekera, S. S. C., Stait, T. L., Tregoning, S., Frajman, L. E., Bournazos, A., et al. (2025) · Genome Medicine · doi:10.1186/s13073-025-01467-z · Cited by 29
Self-citationGoranitis, I., Best, S., Christodoulou, J., Boughtwood, T. F., & Stark, Z. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-021-00874-1 · Cited by 29
Self-citationMergnac, J.-P., Wiedemann, A., Chéry, C., Ravel, J., Namour, F., Guéant, J., Feillet, F., & Oussalah, A. (2021) · Human Genetics · doi:10.1007/s00439-021-02358-0 · Cited by 28
Parents’ experiences of decision making for rapid genomic sequencing in intensive care
Lynch, F., Nisselle, A. E., Stark, Z., Gaff, C., & McClaren, B. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-021-00950-6 · Cited by 26
Self-citationDenommé‐Pichon, A., Vitobello, A., Olaso, R., Ziegler, A. C., Jeanne, M., Mau‐Them, F. T., Couturier, V., Racine, C., Isidor, B., Pöe, C., et al. (2021) · European Journal of Human Genetics · doi:10.1038/s41431-021-00998-4 · Cited by 26
Bowman‐Smart, H., Vears, D. F., Brett, G. R., Martyn, M. M., Stark, Z., & Gyngell, C. (2022) · European Journal of Human Genetics · doi:10.1038/s41431-022-01140-8 · Cited by 26
Self-citationAre We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?
Vears, D. F., Savulescu, J., Christodoulou, J., Wall, M., & Newson, A. J. (2023) · Pharmacogenomics and Personalized Medicine · doi:10.2147/pgpm.s376083 · Cited by 26
Self-citationMcDermott, H., Sherlaw‐Sturrock, C., Baptista, J., Hartles-Spencer, L., & Naik, S. (2022) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2022.104571 · Cited by 25
Lumaka, A. Z., Fasquelle, C., Debray, F., Alkan, S., Jacquinet, A., Harvengt, J., Boemer, F., Mulder, A., Vaessen, S., Viellevoye, R., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24044003 · Cited by 25
Ouyang, X., Zhang, Y., Zhang, L., Luo, J., Zhang, T., Hu, H., Liu, L., Zhong, L., Zeng, S., Xu, P., et al. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.725259 · Cited by 25
SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns
Wenger, T. L., Scott, A. A., Kruidenier, L., Sikes, M. C., Keefe, A., Buckingham, K. J., Marvin, C. T., Shively, K. M., Bacus, T. J., Sommerland, O. M., et al. (2025) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2025.02.003 · Cited by 24
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study
Swarts, J. W., Kleimeier, L. E. R., Leenders, E. K. S. M., Rinne, T., Klein, W. M., & Draaisma, J. M. T. (2022) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62955 · Cited by 24
Amarasekera, S. S. C., Hock, D. H., Lake, N. J., Calvo, S. E., Grønborg, S. W., Krzesinski, E. I., Amor, D. J., Fahey, M. C., Simons, C., Wibrand, F., et al. (2023) · Human Molecular Genetics · doi:10.1093/hmg/ddad069 · Cited by 23
Self-citationZhu, T., Gong, X., Bei, F., Ma, L., Chen, Y., Zhang, Y., Wang, X., Sun, J., Wang, J., Qiu, G., et al. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.565078 · Cited by 22
The role of chromosomal microarray and exome sequencing in prenatal diagnosis
Chau, M. H. K., & Choy, K. W. (2021) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/gco.0000000000000692 · Cited by 24
Teamwork in clinical genomics: A dynamic sociotechnical healthcare setting
Best, S., Brown, H. L., Stark, Z., Long, J. C., Ng, L., Braithwaite, J., & Taylor, N. J. (2021) · Journal of Evaluation in Clinical Practice · doi:10.1111/jep.13573 · Cited by 22
Self-citationAutomated reanalysis of genomic data for rare disease diagnostics at scale
Welland, M. J., Ahlquist, K. D., Fazio, P. D., Austin-Tse, C. A., Pais, L. S., Wedd, L., Bryen, S., Rius, R., Franklin, M., Morrison, C., et al. (2026) · Nature Medicine · doi:10.1038/s41591-026-04477-5 · Cited by 23
Self-citationUltra‐rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours
Bamborschke, D., Özdemir, Ö., Kreutzer, M., Motameny, S., Thiele, H., Kribs, A., Dötsch, J., Altmüller, J., Nürnberg, P., & Çırak, S. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61917 · Cited by 21
French, C. E., Dolling, H., Mégy, K., Sanchis‐Juan, A., Kumar, A. A., Delon, I., Wakeling, M. N., Mallin, L., Agrawal, S., Austin, T., et al. (2022) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2022.100113 · Cited by 20
How I treat thrombotic microangiopathy in the era of rapid genomics
Doreille, A., Rafat, C., Rondeau, É., & Mesnard, L. (2022) · Blood · doi:10.1182/blood.2022015583 · Cited by 20
Pezzoli, L., Pezzani, L., Bonanomi, E., Marrone, C., Scatigno, A., Cereda, A., Bedeschi, M. F., Selicorni, A., Gasperini, S., Bini, P., et al. (2021) · Journal of Cardiovascular Development and Disease · doi:10.3390/jcdd9010002 · Cited by 20
Fehlberg, Z., Stark, Z., Klaic, M., & Best, S. (2024) · Implementation Science Communications · doi:10.1186/s43058-024-00675-9 · Cited by 19
Self-citationAlix, T., Chéry, C., Josse, T., Bronowicki, J., Feillet, F., Guéant‐Rodriguez, R., Namour, F., Guéant, J., & Oussalah, A. (2023) · Human Genomics · doi:10.1186/s40246-023-00455-x · Cited by 19
Rapid acute care genomics: Challenges and opportunities for genetic counselors
Lynch, F., Nisselle, A. E., Gaff, C., & McClaren, B. (2020) · Journal of Genetic Counseling · doi:10.1002/jgc4.1362 · Cited by 19
Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit
Muriello, M. J. (2022) · Clinics in Perinatology · doi:10.1016/j.clp.2021.11.018 · Cited by 18
Determining the value of genomics in healthcare
Goranitis, I., Hayeems, R. Z., Smith, H. S., Buchanan, J. P., Weymann, D., Regier, D. A., Mackley, M. P., Scott, R. H., Hill, S. L., Chung, B. H., et al. (2025) · Nature Medicine · doi:10.1038/s41591-025-04061-3 · Cited by 17
Self-citationHirata, K., Okamoto, N., Ichikawa, C., Inoue, S., Nozaki, M., Banno, K., Takenouchi, T., Suzuki, H., & Kosaki, K. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.62012 · Cited by 17
Next generation sequencing in neonatology: what does it mean for the next generation?
Janvier, A., Barrington, K. J., & Lantos, J. D. (2022) · Human Genetics · doi:10.1007/s00439-022-02438-9 · Cited by 17
Xiao, F., Yan, K., Tang, M., Ji, X., Hu, L., Yang, L., & Zhou, W. (2022) · Expert Review of Molecular Diagnostics · doi:10.1080/14737159.2022.2123704 · Cited by 18
Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases
Findley, T. O., Parchem, J. G., Ramdaney, A., & Morton, S. U. (2023) · Translational Pediatrics · doi:10.21037/tp-23-54 · Cited by 18
Rosina, E., Pezzani, L., Apuril, E., Pezzoli, L., Marchetti, D., Bellini, M., Lucca, C., Meossi, C., Massimello, M., Mariani, M., et al. (2023) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2316 · Cited by 16
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature
Li, Q., Chen, Z., Wang, J., Xu, K., Fan, X., Gong, C., Wu, Z., Zhang, J., & Wu, N. (2023) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/jamapediatrics.2023.3566 · Cited by 15
Fatal Human Neurologic Infection Caused by Pigeon Avian Paramyxovirus-1, Australia
Hurley, S. M., Eden, J., Bingham, J., Rodriguez, M. J., Neave, M. J., Johnson, A., Howard‐Jones, A. R., Kok, J., Anazodo, A. C., McMullan, B. J., et al. (2023) · Emerging infectious diseases · doi:10.3201/eid2912.230250 · Cited by 15
The role of exome sequencing in childhood interstitial or diffuse lung disease
Temple, S. E. L., Ho, G., Bennetts, B., Boggs, K., Vidic, N., Mowat, D. R., Christodoulou, J., Schultz, A., Gayagay, T., Roscioli, T., et al. (2022) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-022-02508-1 · Cited by 15
Self-citationCo-design, implementation, and evaluation of plain language genomic test reports
Brett, G. R., Ward, A., Bouffler, S. E., Palmer, E. E., Boggs, K., Lynch, F., Springer, A., Nisselle, A. E., & Stark, Z. (2022) · npj Genomic Medicine · doi:10.1038/s41525-022-00332-x · Cited by 14
Self-citationBergen, N. J. V., Gunanayagam, K., Bournazos, A., Walvekar, A. S., Warmoes, M. O., Semcesen, L. N., Lunke, S., Bommireddipalli, S., Sikora, T., Patraskaki, M., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24043582 · Cited by 14
Self-citationGenomic medicine in neonatal care: progress and challenges
D’Gama, A. M., & Agrawal, P. B. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01464-z · Cited by 14
Howell, K. B., White, S. M., McTague, A., D’Gama, A. M., Costain, G., Poduri, A., Scheffer, I. E., Chau, V., Smith, L., Stephenson, S. E. M., et al. (2025) · npj Genomic Medicine · doi:10.1038/s41525-025-00474-8 · Cited by 14
Self-citationWells, C. F., Boursier, G., Yauy, K., Pallarès-Ruiz, N., Méchin, D., Ruault, V., Tharreau, M., Blanchet, P., Pinson, L., Coubes, C., et al. (2022) · European Journal of Human Genetics · doi:10.1038/s41431-022-01133-7 · Cited by 14
Vears, D. F., Lynch, F., Nisselle, A. E., Ayres, S., & Stark, Z. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01477-8 · Cited by 14
Self-citationHospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes
French, C. E., Andrews, N. C., Beggs, A. H., Boone, P. M., Brownstein, C. A., Chopra, M., Chou, J. S., Chung, W. K., D’Gama, A. M., Doan, R. N., et al. (2024) · npj Genomic Medicine · doi:10.1038/s41525-024-00441-9 · Cited by 13
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China
Liu, Y., Hao, C., Li, K., Hu, X., Gao, H., Zeng, J., Guo, R., Liu, J., Guo, J. F., Li, Z., et al. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.677699 · Cited by 13
Papandreou, A., Doykov, I., Śpiewak, J., Komarov, N., Habermann, S., Kurian, M. A., Mills, P. B., Mills, K. A., Gissen, P., & Heywood, W. (2022) · Developmental Medicine & Child Neurology · doi:10.1111/dmcn.15334 · Cited by 13
Bioinformatics, Sequencing Accuracy, and the Credibility of Clinical Genomics
Feero, W. G. (2020) · JAMA · doi:10.1001/jama.2020.19939 · Cited by 13
Owens, C. E., Tan, O., Kuroiwa‐Trzmielina, J., Shrestha, R. N., O'Brien, T. A., Tyrrell, V. J., & SCHOFIELD, D. J. (2024) · npj Precision Oncology · doi:10.1038/s41698-024-00711-w · Cited by 12
Opportunities and challenges for paediatricians requesting funded genomic tests for children
McClaren, B., Martyn, M. M., Ince, J., Jan, A., Brown, N. J., Fahey, M. C., Crellin, E., & Gaff, C. (2025) · European Journal of Human Genetics · doi:10.1038/s41431-025-01864-3 · Cited by 12
Self-citationNovel treatments in epilepsy guided by genetic diagnosis
Marini, C., & Giardino, M. (2021) · British Journal of Clinical Pharmacology · doi:10.1111/bcp.15139 · Cited by 12
Real world outcomes and implementation pathways of exome sequencing in an adult genetic department
Walsh, M., West, K., Taylor, J., Thompson, B. A., Hopkins, A., Sexton, A., Ragunathan, A., Verma, K. P., Panetta, J., Matotek, E., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.03.010 · Cited by 12
Self-citationUnderstanding the Clinical Utility of Genome Sequencing in Critically Ill Newborns
Lantos, J. D., Brunelli, L., & Hayeems, R. Z. (2023) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2023.113438 · Cited by 12
Liu, J., Yu, Z., Huang, J., Zhu, D., Zang, P., Luo, Z., Yang, Y., Peng, Y., Xiao, Z., Zhu, Y., et al. (2021) · Human Mutation · doi:10.1002/humu.24266 · Cited by 13
Self-citationExome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia
Morton, S. U., Costain, G., French, C. E., Wakeling, E. L., Szuto, A., Christodoulou, J., Cohn, R. D., Darras, B. T., Wojcik, M. H., D’Gama, A. M., et al. (2024) · Neurology · doi:10.1212/wnl.0000000000210106 · Cited by 11
Self-citationChad, L., Anderson, J., Cagliero, D., Hayeems, R. Z., Ly, L. G., & Szuto, A. (2022) · Hospital Pediatrics · doi:10.1542/hpeds.2022-006654 · Cited by 13
Zhu, W., Wang, C., Mullapudi, N., Cao, Y., Li, L., Lo, I. F. M., Tsui, S. K., Chen, X., Lei, Y., & Gu, S. (2022) · npj Genomic Medicine · doi:10.1038/s41525-022-00344-7 · Cited by 11
Bouffler, S. E., Lee, L., Lynch, F., Martyn, M. M., Lynch, E. L., Macciocca, I., Curnow, L., McCorkell, G., Lunke, S., Chong, B., et al. (2023) · BMJ Open · doi:10.1136/bmjopen-2023-072999 · Cited by 11
Self-citationEichinger, J., Zimmermann, B. M., Elger, B. S., McLennan, S., Filges, I., & Koné, I. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01468-9 · Cited by 11
Heinken, A., Kouche, S. E., Guéant‐Rodriguez, R., & Guéant, J. (2023) · Metabolism · doi:10.1016/j.metabol.2023.155738 · Cited by 13
Metadata
- Authors
- Australian Genomics Health Alliance Acute Care Flagship, Lunke, S., Eggers, S., Wilson, M., Patel, C., Barnett, C. P., Pinner, J., Sandaradura, S. A., Buckley, M. F., Krzesinski, E. I., de Silva, M. G., Brett, G. R., Boggs, K., Mowat, D., Kirk, E. P., Adès, L. C., Akesson, L. S., Amor, D. J., Ayres, S., Baxendale, A., Borrie, S., Bray, A., Brown, N. J., Chan, C. Y., Chong, B., Cliffe, C., Delatycki, M. B., Edwards, M., Elakis, G., Fahey, M. C., Fennell, A., Fowles, L., Gallacher, L., Higgins, M., Howell, K. B., Hunt, L., Hunter, M. F., Jones, K. J., King, S., Kumble, S., Lang, S., Le Moing, M., Ma, A., Phelan, D., Quinn, M. C. J., Richards, A., Richmond, C. M., Riseley, J., Rodgers, J., Sachdev, R., Sadedin, S., Schlapbach, L. J., Smith, J., Springer, A., Tan, N. B., Tan, T. Y., Temple, S. L., Theda, C., Vasudevan, A., White, S. M., Yeung, A., Zhu, Y., Martyn, M., Best, S., Roscioli, T., Christodoulou, J., & Stark, Z.
- Affiliations
- The University of Melbourne (AU)
- The University of Sydney (AU)
- Royal Brisbane and Women's Hospital (AU)
- Women's and Children's Hospital (AU)
- Monash Health (AU)
- Australian Genomics Health Alliance, Parkville, Australia
- Children's Hospital at Westmead (AU)
- UNSW Sydney (AU)
- Royal Children's Hospital (AU)
- Victorian Clinical Genetics Services (AU)
- Hunter Genetics (AU)
- The University of Queensland (AU)
- South Australia Pathology (AU)
- Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Australia
- Royal Women's Hospital (AU)
- Murdoch Children's Research Institute (AU)
- Corresponding author
- Stark, Zornitza
- ORCID
- Lunke, Sebastian
- Wilson, Meredith
- Patel, Chirag
- Barnett, Christopher P.
- Pinner, Jason
- Sandaradura, Sarah A.
- Buckley, Michael F.
- Krzesinski, Emma I.
- Brett, Gemma R.
- Mowat, David
- Kirk, Edwin P.
- Akesson, Lauren S.
- Amor, David J.
- Ayres, Samantha
- Bray, Alessandra
- Brown, Natasha J.
- Chan, Cheng Yee
- Chong, Belinda
- Cliffe, Corrina
- Delatycki, Martin B.
- Edwards, Matthew
- Fahey, Michael C.
- Fennell, Andrew
- Fowles, Lindsay
- Gallacher, Lyndon
- Higgins, Megan
- Howell, Katherine B.
- Hunt, Lauren
- Hunter, Matthew F.
- Jones, Kristi J.
- King, Sarah
- Kumble, Smitha
- Ma, Alan
- Phelan, Dean
- Quinn, Michael C. J.
- Richmond, Christopher M.
- Rodgers, Jonathan
- Sachdev, Rani
- Sadedin, Simon
- Schlapbach, Luregn J.
- Smith, Janine
- Springer, Amanda
- Tan, Natalie B.
- Tan, Tiong Y.
- Theda, Christiane
- Vasudevan, Anand
- White, Susan M.
- Yeung, Alison
- Zhu, Ying
- Martyn, Melissa
- Best, Stephanie
- Roscioli, Tony
- Christodoulou, John
- Stark, Zornitza
- Venue
- JAMA
- Publisher
- American Medical Association (AMA)
- Published
- 2020-06-23
- Volume
- 323
- Issue
- 24
- Pages
- 2503
- ISSN
- 0002-9955 (ISSN-L)
- 0098-7484
- PMC
- PMC7312414
- OpenAlex
- W3035821413
- Cited by
- 239
- References
- 27
- Citations by year
- 2026: 19 · 2025: 33 · 2024: 37 · 2023: 44 · 2022: 58 · 2021: 38 · 2020: 9
- FWCI
- 21.82
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- JAMA (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Zurich Open Repository and Archive (University of Zurich) (acceptedVersion)
- Adelaide Research & Scholarship (AR&S) (University of Adelaide) (submittedVersion)
- Griffith Research Online (submittedVersion, other-oa)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion)
- Zurich Open Repository and Archive (University of Zurich)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Keywords
- pediatric intensive care, genomic diagnostics, diagnostic yield, turnaround time, implementation strategies, clinical management change, mitochondrial genome sequencing, copy number analysis, neonatal intensive care, public health care system
- MeSH terms
- Exome Sequencing, Australia, Child, Child, Preschool, Feasibility Studies, Female, Genetic Testing, Humans, Infant, Infant, Newborn, Male, National Health Programs, Prospective Studies, Time Factors, Critical Illness, Genetic Diseases, Inborn
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
A language model drew the claims from the paper on 2026-10-05, under version 3 of the claim definition (model deepseek-v4.1-flash, prompt extract-v3).
A second model labelled each claim on 2026-10-05 (model jev-1.13-20260917, definition revision gold-guideline-v0.2).
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
