Publications by authors named "Debra Regier"

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New Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia.
Amna A Othman, Holly E Babcock, Corey S Gill, Jamie L Fraser, Debra S Regier

Am J Med Genet A· September 2025

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A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatography.
Kirkland A Wilson, Yun Zhou, Gary Cunningham, Kimberly Chapman, Marshall Summar, Debra Regier

Mol Genet Metab Rep· June 2025

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Recruitment through empathy and education: The role of the clinical experience on workforce development.
Rishisree Achanta, Ashley Cannon, Shayla R Goldberg, Ryan Ha, Andriae LaCour, Debra S Regier

Mol Genet Metab· May 2025

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Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing.
Thomas Cassini, Sarah Silverstein, Molly Behan, Cynthia J Tifft, May Christine Malicdan, Debra S Regier

JIMD Rep· January 2025

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Correspondence on "The Clinical Geneticist Workforce: Community Forums to Address Challenges and Opportunities" by Chung et al.
Jennifer Micham, Marshall Summar, Debra Regier, Colleen Lawrence, Deepika Burkardt

Genet Med· December 2024

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GM1 gangliosidosis type II: Results of a 10-year prospective study.
Precilla D'Souza, Cristan Farmer, Jean M Johnston, Sangwoo T Han, David Adams, Debra S Regier

Genet Med· July 2024

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The clinical geneticist workforce: Community forums to address challenges and opportunities.
Wendy K Chung, Shoumita Dasgupta, Debra S Regier, Benjamin D Solomon

Genet Med· June 2024

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Hyperammonemia in the Pediatric Emergency Department.
Christina R Rojas, Jennifer Chapman, Debra Regier

Pediatr Emerg Care· February 2024

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Case report: Early molecular confirmation and sodium polystyrene sulfonate management of systemic pseudohypoaldosteronism type I.
Einas H Alkhatib, Deirdre Bartlett, Roopa Kanakatti Shankar, Debra Regier, Nadia Merchant

Front Endocrinol (Lausanne)· January 2024

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The impact of home-based call on sleep patterns and wellness in genetics and metabolism physicians compared with subspecialists.
Kiley Boone Quintana, Ilana Miller, Debra S Regier

Genet Med Open· January 2024

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Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Seth I Berger, Georgia Pitsava, Andrea J Cohen, Emmanuèle C Délot, Jonathan LoTempio, Debra S Regier

Clin Genet· September 2023

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Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Daniel G Calame, Cristina Moreno Vadillo, Seth Berger, Timothy Lotze, Marwan Shinawi, Debra Regier

Brain· August 2023

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The past, present, and future of child growth monitoring: A review and primer for clinical genetics.
Natasha Shur, Annie Tigranyan, Carrie Daymont, Debra S Regier, Sumant Raturi

Am J Med Genet A· April 2023

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Optimization of the biochemical genetics laboratory rotation using a multidesign approach to curriculum.
Kerri Bosfield, Jessica Albert, Nancy Cheng, Tiffany Swaringer, Kristina Cusmano-Ozog, Debra S Regier

Genet Med· February 2023

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Domino liver transplantation: Expanding the liver donor pool to the pediatric recipient.
Udeme D Ekong, Sahithi Reddy, Nada Yazigi, Khalid Khan, Stuart Kaufman, Debra Regier

Liver Transpl· December 2022

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Maple syrup urine disease decompensation misdiagnosed as a psychotic event.
Tomoyasu Higashimoto, Matthew T Whitehead, Erin MacLeod, Danielle Starin, Debra S Regier

Mol Genet Metab Rep· September 2022

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Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.
Sarah C Grünert, Terry G J Derks, Katarina Adrian, Khalid Al-Thihli, Diana Ballhausen, Debra Regier

Genet Med· August 2022

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Starting the conversation on gene therapy for phenylketonuria: Current perspectives of patients, caregivers, and advocates.
Debra S Regier, Agata Bąk, Heather Bausell, Emer O'Reilly, Lex M Cowsert

Mol Genet Metab Rep· June 2022

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The Rare Disease Research Scholars Program: A training curriculum for clinical researchers with mixed methods evaluation study.
Debra S Regier, Jennifer A Weaver, Nancy Cheng, Mark L Batshaw, Mary Ottolini

Transl Sci Rare Dis· April 2022

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rhabdomyolysis: A single site cohort description and treatment recommendations.
Navya Kanderi, Brian Kirmse, Debra S Regier, Kimberly A Chapman

Mol Genet Metab Rep· March 2022

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A Case Series of Familial Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
Pleuntje J van der Sluijs, Mariëlle Alders, Alexander J M Dingemans, Kareesma Parbhoo, Bregje W van Bon, Debra S Regier

Genes (Basel)· August 2021

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Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers.
Andrea J Cohen, Natasha Shur, Danielle Starin, Erin MacLeod, Tamanna Roshan Lal, Debra S Regier

Am J Med Genet C Semin Med Genet· March 2021

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Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
Maxwell L Summerlin, Debra S Regier, Jamie L Fraser, Kimberly A Chapman, Dariush Kafashzadeh

Am J Med Genet A· February 2021

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