Publications by authors named "Reid Sutton"

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Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health.
Julia M Morales, Camille F Villar, Beatriz Varman, Gianna M Colombo, Danqi Li, V Reid Sutton

Am J Med Genet A· December 2025

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Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs).
Xueyang Pan, Yue Wang, Ning Liu, Xi Luo, V Reid Sutton

Mol Genet Metab· November 2025

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The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Marcus J Miller, Maria Laura Duque Lasio, Adam D Kennedy, Rebecca McClellan, Devin Oglesbee, V Reid Sutton

Genet Med· October 2025

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Facilitators and barriers to care among individuals with osteogenesis imperfecta.
Selena Guo, Francesca C Gedeon, Andrew D Wiese, Justin H Qian, Julia M Morales, V Reid Sutton

Psychol Health· October 2025

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Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study.
Judith S Miller, Cristan Farmer, Susan Blair, Simona Bianconi, Natacha Akshoomoff, V Reid Sutton

Pediatr Neurol· October 2025

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Osteogenesis imperfecta and the family: A qualitative analysis of the experiences of family and caregivers.
Gianna M Colombo, Andrew D Wiese, Amelia E Mercado, Whitney S Shepherd, Michelle Fynan, V Reid Sutton

Fam Syst Health· September 2025

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Newborn Screening: Advances, Challenges, and Future Directions.
Yishay Ben-Moshe, V Reid Sutton

Clin Perinatol· September 2025

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A qualitative exploration of child, caregiver, and clinician perspectives on mental health in children with osteogenesis imperfecta.
Justin H Qian, Andrew D Wiese, Clarissa Gonzalez, Whitney S Shepherd, Hannah Cho, V Reid Sutton

J Child Health Care· September 2025

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Effective algorithm to differentiate NBS MCADD cases from carriers and non-carriers and an assessment of the utility of the second newborn screen for MCADD.
Matthew T Snyder, Kristian Divin, Ning Liu, Qin Sun, Yue Wang, V Reid Sutton

Mol Genet Metab· August 2025

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Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics.
Chaofan Zhang, Rituparna Sinha Roy, Ming Yin Lun, Juliana F Mazzeu, Janson White, V Reid Sutton

bioRxiv· August 2025

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Mindful Self-Compassion to Reduce Pain Interference Among Adults with Osteogenesis Imperfecta.
Amena Sediqi, Roya Al-Khalili, Saunya Dover, Corien Peeters, Adam Khalif, V Reid Sutton

J Clin Psychol Med Settings· August 2025

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Resilience and coping: a qualitative analysis of cognitive and behavioral factors in adults with osteogenesis Imperfecta.
Hannah E Cho, Whitney S Shepherd, Gianna M Colombo, Andrew D Wiese, W Conor Rork, V Reid Sutton

Disabil Rehabil· February 2025

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Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta: A Qualitative Study.
Whitney S Shepherd, Andrew D Wiese, Hannah E Cho, W Conor Rork, M Usman Baig, V Reid Sutton

J Clin Psychol Med Settings· September 2024

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Qualitative investigation of school experiences in children with osteogenesis imperfecta.
Julia M Morales, Andrew D Wiese, Whitney S Shepherd, Gianna M Colombo, Selena Guo, V Reid Sutton

Child Health Care· September 2024

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Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.
Nathalie Guffon, Barbara K Burton, Can Ficicioglu, Martin Magner, Mercedes Gil-Campos, V Reid Sutton

Mol Genet Metab· August 2024

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Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.
Kevin E Glinton, Charul Gijavanekar, Abbhirami Rajagopal, Laura P Mackay, Kirt A Martin, V Reid Sutton

Front Genet· June 2024

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Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants.
Juliana Marulanda, Jean-Marc Retrouvey, Brendan Lee, V Reid Sutton,

Orthod Craniofac Res· April 2024

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Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG).
Julie M Lander, Monica Penon-Portmann, V Reid Sutton, Irene Chang,

Genet Med Open· April 2024

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The impact of the Turkish population variome on the genomic architecture of rare disease traits.
Zeynep Coban-Akdemir, Xiaofei Song, Francisco C Ceballos, Davut Pehlivan, Ender Karaca, V Reid Sutton

Genet Med Open· February 2024

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Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A Wassif, Niamh X Cawley, V Reid Sutton

Mol Genet Metab Rep· December 2023

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Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A Wassif, Niamh X Cawley, V Reid Sutton

Mol Genet Metab Rep· December 2023

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Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.
Ronit Marom, Bo Zhang, Megan E Washington, I-Wen Song, Lindsay C Burrage, V Reid Sutton

PLoS Genet· November 2023

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A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta.
W Conor Rork, Alyssa G Hertz, Andrew D Wiese, Kristin M Kostick, Dianne Nguyen, V Reid Sutton

Am J Med Genet A· September 2023

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Differences in Hyperandrogenism Related to Early Detection of Non-Classical Congenital Adrenal Hyperplasia on Second Newborn Screen.
Bonnie McCann-Crosby, Mark C Liang, Mitchell E Geffner, Christina M Koppin, Nicole R Fraga, V Reid Sutton

Int J Neonatal Screen· September 2023

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