Publications by authors named "Stephen Kingsmore"

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A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders.
Lu Wang, Yuji Nakamura, Junhao Li, David Sievert, Yang Liu, Stephen F Kingsmore

Cell Stem Cell· December 2025

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Systematic review and meta-analysis of humoral immunity proteins and mortality in sepsis.
Antoine Villa, Fiona Dewar, Walter Pisciotta, Ankit Rai, Sven Kerneis, Stephen F Kingsmore

Crit Care· December 2025

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Rapid Genome Sequencing Compared with a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation.
Tara A Lavelle, Jill L Maron, Stephen F Kingsmore, Ching-Hsuan Lin, Yingying Zhu

J Pediatr· November 2025

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Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial.
Rebecca Reimers, Miranda Bailey, Chester Brown, Kee Chan, Tom Defay, Stephen F Kingsmore

BMJ Open· November 2025

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Genome x Environment analysis of Sudden Unexpected Infant Death unveils etiologic heterogeneity and strong cannabis and genetic disease risks.
Stephen F Kingsmore, Gretchen Bandoli, Daniel C Helbling, Rebecca Baer, Eric Blincow

medRxiv· November 2025

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Rapid Whole-Genome Sequencing as a First-Line Test Is Likely to Significantly Reduce the Cost of Acute Care in a Private Payer System.
Christy Moore, Madison Arenchild, Bryce Waldman, Seema Rego, Stephen F Kingsmore

J Appl Lab Med· July 2025

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Long-term follow-up of children who received rapid genomic sequencing.
Erica Sanford Kobayashi, Laura E Tobin, Madison Arenchild, Wendy Benson, Nicole G Coufal, Stephen F Kingsmore

Genet Med· June 2025

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MPSE identifies newborns for whole genome sequencing within 48 h of NICU admission.
Bennet Peterson, Edwin F Juarez, Barry Moore, Edgar Javier Hernandez, Erwin Frise, Stephen F Kingsmore

NPJ Genom Med· June 2025

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Palliative Care Outcomes for Critically ill Children After Rapid Whole Genome Sequencing.
Katherine Perofsky, Ami Doshi, Zaineb Boulil, Julia Beauchamp Walters, Euyhyun Lee, Stephen Kingsmore

J Intensive Care Med· May 2025

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The contribution of de novo coding mutations to meningomyelocele.
Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Stephen F Kingsmore

Nature· May 2025

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Rapid Genome Sequencing Compared to a Gene Panel in Critically Ill Infants with a Suspected Genetic Disorder: An Economic Evaluation.
Tara A Lavelle, Jill L Maron, Stephen F Kingsmore, Ching-Hsuan Lin, Yingying Zhu

medRxiv· April 2025

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Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.
Riley M McCarty, Dimah Saade, Pinki Munot, Chamindra G Laverty, Hailey Pinz, Stephen F Kingsmore

Ann Clin Transl Neurol· March 2025

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The diagnosis and treatment of rare genetic disorders in neonates, infants, and children: the time is now.
Stephen F Kingsmore, Jonathan M Davis

Pediatr Res· March 2025

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Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.
Stephen F Kingsmore, Meredith Wright, Laurie D Smith, Yupu Liang, William R Mowrey

Am J Hum Genet· December 2024

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Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.
Stephen F Kingsmore, Meredith Wright, Lauren Olsen, Brandan Schultz, Liana Protopsaltis

Am J Hum Genet· December 2024

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Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes.
Erica Sanford Kobayashi, Nava Shaul Lotan, Yael Dinur Schejter, Christine Makowski, Verena Kraus, Stephen Kingsmore

J Pediatr· November 2024

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Early Newborn Metabolic Patterning and Sudden Infant Death Syndrome.
Scott P Oltman, Elizabeth E Rogers, Rebecca J Baer, Ribka Amsalu, Gretchen Bandoli, Stephen F Kingsmore

JAMA Pediatr· November 2024

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Genomic mosaicism reveals developmental organization of trunk neural crest-derived ganglia.
Keng Ioi Vong, Yanina D Alvarez, Geoffroy Noel, Scott T Barton, Changuk Chung, Stephen F Kingsmore

bioRxiv· September 2024

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Rapid Whole-Genome Sequencing and Clinical Management in the PICU: A Multicenter Cohort, 2016-2023.
Katherine M Rodriguez, Jordan Vaught, Lisa Salz, Jennifer Foley, Zaineb Boulil, Stephen F Kingsmore

Pediatr Crit Care Med· August 2024

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Novel variants in leading to catecholaminergic polymorphic ventricular tachycardia.
Douglas Jones, Jacob Hartung, Elizabeth Lasalle, Alejandro Borquez, Viridiana Murillo, Stephen F Kingsmore

Life Sci Alliance· August 2024

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Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain.
Changuk Chung, Xiaoxu Yang, Robert F Hevner, Katie Kennedy, Keng Ioi Vong, Stephen F Kingsmore

Nature· May 2024

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The Plasma Lipidomic Landscape in Patients with Sepsis due to Community-acquired Pneumonia.
Osoul Chouchane, Alex R Schuurman, Tom D Y Reijnders, Hessel Peters-Sengers, Joe M Butler, Stephen F Kingsmore

Am J Respir Crit Care Med· April 2024

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Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
Vaidehi Jobanputra, Brock Schroeder, Heidi L Rehm, Wei Shen, Elizabeth Spiteri, Stephen F Kingsmore

NPJ Genom Med· March 2024

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Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.
Stephen F Kingsmore, Russell Nofsinger, Kasia Ellsworth

NPJ Genom Med· February 2024

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Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Lauren Thompson, Austin Larson, Lisa Salz, Regan Veith, John-Paul Tsai, Stephen F Kingsmore

Front Pediatr· February 2024

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