Publications by authors named "Cynthia Powell"

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Phosphine and Arsine MOFs with Stabilized Diosmium(I) Carbonyl Sawhorse Pillars.
Samuel K Emslie, Benjamin Patterson, Ashley K Archambeau, Adrienne H Schumacher, R Eric Sikma, Cynthia B Powell, Gregory L Powell

Inorg Chem· December 2025

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Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.
Heidi L Cope, Elizabeth R Jalazo, Jonathan S Berg, Jennifer A Sullivan, Katerina S Kucera, Cynthia M Powell

Nat Med· November 2025

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The importance of residual newborn screening dried blood spots, 2025 revision: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Nancy C Rose, Michele Caggana, Mary Beth Dinulos, Leslie Francis, Michele A Lloyd-Puryear, Cynthia M Powell

Genet Med· August 2025

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Advances in Newborn Screening.
Cynthia M Powell

Pediatr Clin North Am· August 2025

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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Angela Peron, Felice D'Arco, Kimberly A Aldinger, Constance Smith-Hicks, Christiane Zweier, Cynthia M Powell

Eur J Hum Genet· March 2025

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Examining the impact of Native American myopathy on the quality of life and healthcare accessibility of patients and caregivers.
Magnolia G Wang, Kristen Lancaster, Cynthia M Powell

Am J Med Genet A· December 2024

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A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation.
Heidi L Cope, Laura V Milko, Elizabeth R Jalazo, Blythe G Crissman, Ann Katherine M Foreman, Bradford C Powell, Cynthia M Powell

Genet Med· December 2024

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Theoretical Investigation of Linear Relationships between the Dihedral Torsion Angles and Diosmium Bond Distances in Diosmium Sawhorse Complexes.
Yicheng Tong, Cynthia B Powell, Gregory L Powell, Michael B Hall

Inorg Chem· January 2024

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A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization.
Leping Li, Lalith Perera, Sonia A Varghese, Yael Shiloh-Malawsky, Senyene E Hunter, Cynthia M Powell

Front Cell Neurosci· September 2023

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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Cynthia M Powell

Am J Med Genet A· August 2023

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Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening.
Margie A Ream, Wendy K K Lam, Scott D Grosse, Jelili Ojodu, Elizabeth Jones, Cynthia M Powell

Pediatrics· August 2023

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Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.
Jill L Maron, Stephen Kingsmore, Bruce D Gelb, Jerry Vockley, Kristen Wigby, Cynthia M Powell

JAMA· July 2023

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Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing.
Kristen Wigby, Monia Hammer, Mari Tokita, Priyanka Patel, Marilyn C Jones, Cynthia Powell

Am J Med Genet A· April 2023

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Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States.
Margie A Ream, Wendy K K Lam, Scott D Grosse, Jelili Ojodu, Elizabeth Jones, Cynthia M Powell

Genet Med· February 2023

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Kinetic and Computational Analysis of CO Substitution in a Dinuclear Osmium Carbonyl Complex: Intersection between Dissociative and Dissociative-Interchange Mechanisms.
Zachary M Martinez, Tucker M Folsom, Yicheng Tong, Ashley K Archambeau, Donald J Darensbourg, Cynthia B Powell, Gregory L Powell

Inorg Chem· January 2022

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Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Chaofan Zhang, Angad Jolly, Brian J Shayota, Juliana F Mazzeu, Haowei Du, Cynthia M Powell

HGG Adv· January 2022

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Virtual Shadowing Program for Preclinical Medical Students.
Prashant Saini, Kunal Debroy, Christopher Badger, Cynthia Powell, Punam Thakkar

Med Sci Educ· October 2021

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DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG).
Lora J H Bean, Maren T Scheuner, Michael F Murray, Leslie G Biesecker, Robert C Green, Cynthia M Powell

Genet Med· June 2021

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Outreach to new mothers through direct mail and email: recruitment in the Early Check research study.
Ryan S Paquin, Megan A Lewis, Blake A Harper, Rebecca R Moultrie, Angela Gwaltney, Cynthia M Powell

Clin Transl Sci· May 2021

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Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.
Jill L Maron, Stephen F Kingsmore, Kristen Wigby, Shimul Chowdhury, David Dimmock, Cynthia M Powell

JAMA Pediatr· May 2021

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Klinefelter Syndrome and Turner Syndrome.
Carole Samango-Sprouse, Sophia Q Song, Angela E Lin, Cynthia M Powell, Andrea L Gropman

Pediatr Rev· May 2021

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Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making.
Daniela M DeCristo, Laura V Milko, Julianne M O'Daniel, Ann Katherine M Foreman, Lonna F Mollison, Bradford C Powell, Cynthia M Powell

Genome Med· March 2021

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A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check.
Katerina S Kucera, Jennifer L Taylor, Veronica R Robles, Kristin Clinard, Brooke Migliore, Cynthia M Powell

Int J Neonatal Screen· March 2021

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Newborn Screening and Long-term Outcomes.
Cynthia M Powell

Pediatrics· November 2020

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Mindful Mentors: Is a Longitudinal Mind-Body Skills Training Pilot Program Feasible for Pediatric Cardiology Staff?
Vicki A Freedenberg, JiJi Jiang, Carla A Cheatham, Erica Ms Sibinga, Cynthia A Powell

Glob Adv Health Med· September 2020

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