DebraSRegierMD

PubMed

• 1 citations
  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, Tamanna Roshan Lal, Kevin Cleary, Marshall Summar> ;American Journal of Medical Genetics. Part A. 2023 Apr 1
• 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> ;Genetics in Medicine. 2023 Feb 1
• Maple syrup urine disease decompensation misdiagnosed as a psychotic event.
  Tomoyasu Higashimoto, Matthew T Whitehead, Erin MacLeod, Danielle Starin, Debra S Regier> ;Molecular Genetics and Metabolism Reports. 2022 Sep 1
• 26 citations
  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, Joanna Bidiuk, Andrea Bordugo, Monica Boyer, Drago Bratkovic, Michaela Brunner-K...> ;Genetics in Medicine. 2022 Aug 1
• 2 citations
  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> ;Molecular Genetics and Metabolism Reports. 2022 Jun 1
• 1 citations
  rhabdomyolysis: A single site cohort description and treatment recommendations.
  Navya Kanderi, Brian Kirmse, Debra S Regier, Kimberly A Chapman> ;Molecular Genetics and Metabolism Reports. 2022 Mar 1
• 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, Michael E Shy, Marshall L Summar> ;Translational Science of Rare Diseases. 2022 Jan 1
• 5 citations
  A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
  Pleuntje J. van der Sluijs, Marielle Alders, Alexander J. M. Dingemans, Kareesma Parbhoo, Bregje W.M. van Bon, Jennifer C. Dempsey, Dan Doherty, Johan T. den Dunnen, E...> ;Genes. 2021 Aug 20
• 5 citations
  Pediatric medical genetics house call: Telemedicine for the next generation of patients and providers.
  Andrea J. Cohen, Natasha Shur, Danielle Starin, Erin MacLeod, Tamanna R. Roshan Lal, Eyby Leon, Debra S Regier> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2021 Jan 11
• 31 citations
  Rapid deployment of a telemedicine care model for genetics and metabolism during COVID-19.
  Natasha Shur, Shireen M Atabaki, Monisha S. Kisling, Abir Tabarani, Clarence Williams, Jamie L. Fraser, Debra S Regier, Marshall L. Summar> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 4 citations
  Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations
  Kerri Bosfield, Debra S Regier, Sarah Viall, Rebecca Hicks, Natasha Shur, Christina Grant> ;American Journal of Medical Genetics. Part A. 2021 Jan 1
• 4 citations
  Use of dexamethasone in idiopathic, acute pediatric rhabdomyolysis.
  Maxwell L Summerlin, Debra S Regier, Jamie L. Fraser, Kimberly A. Chapman, Dariush Kafashzadeh, Charles J. Billington, Monisha S. Kisling, Angela Grochowsky, Nicholas ...> ;American Journal of Medical Genetics. Part A. 2020 Dec 10
• The biochemical village: How it can flourish and thrive.
  Debra S Regier> ;Molecular Genetics and Metabolism. 2020 Jul 1
• A pandemic will not stop metabolic innovation.
  Erin L. MacLeod, Danielle Starin, Nicholas Ah Mew, Debra S Regier> ;Molecular Genetics and Metabolism. 2020 May 22
• 15 citations
  Medical genetics education in the midst of the COVID-19 pandemic: Shared resources.
  Debra S Regier, Wendy E. Smith, Heather M. Byers> ;American Journal of Medical Genetics. Part A. 2020 Apr 23
• 8 citations
  Assessment of Thyroid Function in Patients With Alkaptonuria.
  Shirisha Avadhanula, Wendy J. Introne, Sungyoung Auh, Steven J. Soldin, Brian Stolze, Debra S Regier, Carla Ciccone, Fady Hannah-Shmouni, Armando C. Filie, Kenneth D. ...> ;JAMA Network Open. 2020 Mar 2
• 8 citations
  The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.
  Carlos Ferreira, Debra S Regier, Robin Yoon, Kristen S. Pan, Jean M. Johnston, Sandra Yang, Jürgen W. Spranger, Cynthia J. Tifft> ;Bone. 2020 Feb 1
• 1 citations
  Elevated urine oxalate and renal calculi in a classic galactosemia patient on soy-based formula.
  Julia A. Sabatino, Danielle Starin, Shamir Tuchman, Carlos Ferreira, Debra S Regier> ;JIMD Reports. 2019 Jun 21
• Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies.
  P Kamalapathy, J S Fonda Allen, C J Macri, A K Lawrence, D S Regier, E I Rubio> ;Journal of Neonatal-Perinatal Medicine. 2019 May 7
• Whole-exome sequencing for diagnosis of Peters-plus syndrome after prenatal diagnosis of recurrent low PAPP-A and multiple fetal anomalies in two consecutive pregnancies.
  P Kamalapathy, J S Fonda Allen, C J Macri, A K Lawrence, D S Regier, E I Rubio> ;Journal of Neonatal-Perinatal Medicine. 2019 Jan 1
• 17 citations
  Inborn Errors of Metabolism: From Preconception to Adulthood.
  Paul Kruszka, Debra Regier> ;American Family Physician. 2019 Jan 1
• 8 citations
  Clinical, Biochemical and Molecular Characteristics of malonyl-CoA Decarboxylase Deficiency and Long-Term Follow-Up of Nine Patients
  Cristel C. Chapel-Crespo, Dimitar Gavrilov, Mary Sowa, Jessica Myers, Debra-Lynn Day-Salvatore, Haley Lynn, Debra S Regier, Danielle Starin, Maija R. Steenari, Kees Sc...> ;Molecular Genetics and Metabolism. 2019 Jan 1
• 8 citations
  Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registries.
  Debra S Regier, Carlos Ferreira, Suzanne Hart, Donald W. Hadley, Maximilian Muenke> ;Molecular Genetics & Genomic Medicine. 2017 Nov 1
• 4 citations
  Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of disease.
  Carlos Ferreira, Debra S Regier, Donald W. Hadley, P. Suzanne Hart, Maximilian Muenke> ;Molecular Genetics & Genomic Medicine. 2017 Jul 1
• 1 citations
  Case 5: Acute Vomiting and Hallucinations in a 5-year-old Vegan Girl.
  Leslie Magida Farrell, Sonal Kalburgi, Michelle McGarry-Hansen, Debra S. Regier> ;Pediatrics in Review. 2017 Jun 1
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