Susan Berry MD
University of Minnesota-Twin Cities
H-index: 50
North America-United States
Top articles of Susan Berry MD
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database | Molecular Genetics & Genomic Medicine | Kuntal Sen Rima Izem Yuelin Long Jiji Jiang Laura L Konczal | 2024/4 |
IT translates: An update on the ARCT-810 mRNA therapy for OTC deficiency | Molecular Genetics and Metabolism | Markey McNutt Jerry Vockley Roberto Zori Donald Basel Margo Breilyn | 2024/4/1 |
The national phenylketonuria alliance's patient registry: Amplifying the patient and caregiver perspective related to diet compliance in the United States | Molecular Genetics and Metabolism | Kelsey McQueen Elaina Jurecki Susan Berry | 2024/4/1 |
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders | Genetics in medicine | Roland Posset Sven F Garbade Florian Gleich Svenja Scharre Jürgen G Okun | 2024/4/1 |
Perspectives of genetic counseling supervisors regarding genetic counseling students' attainment of practice‐based competencies in clinical care through remote supervision | Journal of Genetic Counseling | Kate P Shane‐Carson Loan Stone Kaitlin Justice Shannah Mwanda Amy Stagg | 2024/2/10 |
The challenge of understanding and predicting phenotypic diversity in urea cycle disorders | Roland Posset Matthias Zielonka Florian Gleich Sven F Garbade Georg F Hoffmann | 2023/11 | |
Using long-term follow-up data to classify genetic variants in newborn screened conditions | Frontiers in Genetics | Kevin Wilhelm Mathew J Edick Susan A Berry Michael Hartnett Amy Brower | 2022/5/26 |
Rare presentation of FDX2‐related disorder and untargeted global metabolomics findings | American Journal of Medical Genetics Part A | Anjali Aggarwal Nishitha R Pillai Charles J Billington Jr Lynn Schema Susan A Berry | 2022/4 |
A multimodal genetic testing approach to a diagnosis of Roberts-SC phocomelia syndrome, an ESCO2 spectrum disorder | American Journal of Clinical Pathology | Trevor Killeen Matt Bower Susan Berry Betsy Hirsch | 2022/11/1 |
Methionine synthase deficiency: variable clinical presentation and benefit of early diagnosis and treatment | Journal of inherited metabolic disease | Kimberly A Kripps Leighann Sremba Austin A Larson Johan LK Van Hove Hoanh Nguyen | 2022/3 |
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency | Annals of clinical and translational neurology | Svenja Scharre Roland Posset Sven F Garbade Florian Gleich Marie J Seidl | 2022/11 |
Council on Genetics | Burke LW, Berry SA, Geleske TA, Holm I, Hopkin RJ, Introne WJ, Lyons MJ, Monteil DC, Scheuerle A, Stoler JM, Vergano SA, Chen E, Hamid R, Downs SM, Grout RW, Cunniff C, Parisi MA, Ralston SJ, Scott JA, Shapira SK, Spire P. Health supervision for children | Marilyn J Bull Tracy Trotter Stephanie L Santoro Celanie Christensen Randall W Grout | 2022 |
Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in the IBEM … | Molecular Genetics and Metabolism Reports | Chelsey Chaehee Lim Jerry Vockley Otobo Ujah Russell S Kirby Mathew J Edick | 2022/9/1 |
Population-based screening of newborns: Findings from the NBS expansion study (Part One) | Frontiers in Genetics | Amy Brower Kee Chan Marc Williams Susan Berry Robert Currier | 2022/7/22 |
Liver transplant as a curative treatment in a pediatric patient with classic homocystinuria: a case report | American Journal of Medical Genetics Part A | Stephanie P Kerkvliet Michelle N Rheault Susan A Berry | 2021/4 |
Mary Ella Mascia Pierpont: Geneticist, scientist, mentor, friend (1945–2020) | Elizabeth I Pierpont Susan A Berry Angela E Lin Jamie L Lohr Lisa A Schimmenti | 2021/2 | |
Management principles for acute illness in patients with medium-chain acyl-coenzyme a dehydrogenase deficiency | Pediatrics | Tracy L McGregor Susan A Berry Katrina M Dipple Rizwan Hamid Emily Chen | 2021/1/1 |
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders | Molecular genetics and metabolism | Nicola Longo George A Diaz Uta Lichter-Konecki Andreas Schulze Michal Inbar-Feigenberg | 2021/1/1 |
Leukodystrophies in children: diagnosis, care, and treatment | Pediatrics | Joshua L Bonkowsky Stephanie Keller Jamie K Capal Timothy Lotze Renée A Shellhaas | 2021/9/1 |
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course | American Journal of Medical Genetics Part A | Nishitha R Pillai Dana Miller Elizabeth I Pierpont Susan A Berry Anjali Aggarwal | 2021/6 |
