Publications by authors named "Cindy Colson"

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Haploinsufficiency of SF3B2 revealed by a craniofacial microsomia with atypical presentation: a case report.
Antoine Octau, Cindy Colson, Joel Ferri

J Stomatol Oral Maxillofac Surg· October 2025

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Genome sequencing identifies RMND1 as a strong candidate gene for severe prenatal kidney failure mimicking renal tubular dysgenesis associated with hyporeninism.
Luisa Marsili, Matthieu Mantecon, Christelle Arrondel, Giulia Barcia, Zahra Assouline, Cindy Colson

Pediatr Nephrol· September 2025

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LONP1 Variants Are Associated With Clinically Diverse Phenotypes.
Randee E Young, Lu Qiao, Rebecca Hernan, David A Sweetser, Jessica L Waxler, Cindy Colson

Clin Genet· September 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Cindy Colson

Nat Genet· June 2025

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The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.
Cindy Colson, Marine Tessarech, Elise Boucher-Brischoux, Odile Boute-Benejean, Catherine Vincent-Delorme

Clin Genet· May 2025

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Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features.
Christel Thauvin-Robinet, Aurore Garde, Maud Favier, Julian Delanne, Caroline Racine, Cindy Colson

Eur J Hum Genet· May 2025

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Pediatric Emergency Department Burn Discharge and Clinic Readiness: A Quality Improvement Project.
Rachel Hatcliffe, Anne Ciriello, Elizabeth Murphy Waibel, Cindy Colson, Ashley White

Pediatr Qual Saf· April 2025

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Intimate Partner Violence: Piloting an E-Module for Pediatric Staff.
Mary Beth Howard, Marci J Fornari, Cindy D Colson, Megan Ebner, Lenore R Jarvis

Clin Pediatr (Phila)· February 2025

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A Hospital Resource for Nurses Navigating Doctoral Education and Beyond.
Suzanne Feetham, Katherine Patterson Kelly, Cindy D Colson, Eileen P Engh, Shaun Christopher Frame

J Nurs Adm· February 2025

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Expanded phenotypic spectrum of UDP-glucose-6-dehydrogenase recessive neurodevelopmental disorder: Two novel descriptions with or without epileptic encephalopathy.
Pauline Plante-Bordeneuve, Simon Boussion, Mélanie Rama, Perrine Brunelle, Caroline Thuillier, Cindy Colson

Am J Med Genet A· December 2024

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Primary Failure of Dental Eruption Due to Variants Parathyroid Hormone Receptor 1: Retrospective Study and Proposal of Guidelines Treatment.
Antoine Thuaire, Hélène Delebarre, Luisa Marsili, Cindy Colson, Clemence Vanlerberghe

J Craniofac Surg· October 2024

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Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.
Christel Thauvin-Robinet, Aurore Garde, Julian Delanne, Caroline Racine, Thierry Rousseau, Cindy Colson

Prenat Diagn· September 2024

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Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.
Jana Willim, Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Cindy Colson

Nat Commun· September 2024

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Pain Assessment in the Outpatient Pediatric Burn Patient: An Integrative Review.
Cindy Colson, Judy Ascenzi, Elizabeth Waibel, Deborah Busch

J Trauma Nurs· July 2024

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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Guillaume Jedraszak, Florence Jobic, Aline Receveur, Frédéric Bilan, Brigitte Gilbert-Dussardier, Cindy Colson

Am J Med Genet A· April 2024

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Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.
Alexia Bourgois, Varoona Bizaoui, Cindy Colson, Aline Vincent-Devulder, Arnaud Molin

Am J Med Genet A· March 2024

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Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Ariane Schmetz, Hermann-Josef Lüdecke, Harald Surowy, Sugirtahn Sivalingam, Ange-Line Bruel, Cindy Colson

Hum Genet· January 2024

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Emergency Medical Services Clinicians' Perspectives on Pediatric Non-Transport.
Caleb E Ward, Judith Singletary, Rachel E Hatcliffe, Cindy D Colson, Joelle N Simpson

Prehosp Emerg Care· November 2023

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EasyTBSA as a method for calculating total body surface area burned: a validation study.
Cindy D Colson, Emily C Alberto, Zachary P Milestone, Nikita Batra, Tyler Salvador

Emerg Med J· April 2023

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Evaluation of Missing Prehospital Physiological Values in Injured Children and Adolescents.
Travis M Sullivan, Zachary P Milestone, Cindy D Colson, Peyton E Tempel, Waverly V Gestrich-Thompson

J Surg Res· March 2023

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Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.
Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, Hana Safraou, Ange-Line Bruel, Cindy Colson

Front Genet· March 2023

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Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.
Federico Tessadori, Karen Duran, Karen Knapp, Matthias Fellner, , Cindy Colson

Am J Hum Genet· April 2022

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Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication-deletion: Genotype-phenotype correlation for anomalies of the corpus callosum.
Roseline Vibert, Cyril Mignot, Boris Keren, Sandra Chantot-Bastaraud, Marie-France Portnoï, Cindy Colson

Clin Genet· March 2022

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Joint involvement in Noonan syndrome. A retrospective paediatric descriptive study.
Aurore Le Quellec, Thomas Edouard, Séverine Audebert-Bellanger, Antoine Pouzet, Karine Bourdet, Cindy Colson

Joint Bone Spine· January 2022

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Using Social Media for the Prevention of Pediatric Burn Injuries: Pilot Design and Usability Study.
Nikita Batra, Cindy D Colson, Emily C Alberto, Randall S Burd

JMIR Form Res· July 2021

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