Publications by authors named "Shawn McCandless"

Claim this Profile
T
Timeliness of Reporting NBS Results for Krabbe Disease.
Shawn E McCandless

Genet Med· December 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
ACAD9 treatment with bezafibrate and nicotinamide riboside temporarily stabilizes cardiomyopathy and lactic acidosis.
Johan L K Van Hove, Marisa W Friederich, Daniella H Hock, David A Stroud, Nikeisha J Caruana, Shawn E McCandless

Mitochondrion· September 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
B
Behavioral changes in patients with Prader-Willi syndrome receiving diazoxide choline extended-release tablets compared to the PATH for PWS natural history study.
Theresa V Strong, Jennifer L Miller, Shawn E McCandless, Evelien Gevers, Jack A Yanovski

J Neurodev Disord· April 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
N
Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria.
Mitzie L Grant, Elaina R Jurecki, Shawn E McCandless, Stephen M Stahl, Deborah A Bilder

J Pediatr· September 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Intranasal Carbetocin Reduces Hyperphagia, Anxiousness, and Distress in Prader-Willi Syndrome: CARE-PWS Phase 3 Trial.
Elizabeth Roof, Cheri L Deal, Shawn E McCandless, Ronald L Cowan, Jennifer L Miller

J Clin Endocrinol Metab· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Piloting a multidisciplinary approach to improve outcomes of fetal whole exome sequencing: An overview of workflow and case example.
Kestutis C Micke, Hannah M Elfman, Katherine A Fantauzzo, Patrick S McGrath, David E Clouthier, Shawn E McCandless

Prenat Diagn· April 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
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, Shawn E McCandless

Genet Med· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Thrombosis Risk History and D-dimer Levels in Asymptomatic Individuals with Prader-Willi Syndrome.
Lisa Matesevac, Jennifer L Miller, Shawn E McCandless, Jaret L Malloy, Jessica E Bohonowych

J Clin Med· April 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.
Kimberly A Kripps, Leighann Sremba, Austin A Larson, Johan L K Van Hove, Hoanh Nguyen, Shawn E McCandless

J Inherit Metab Dis· March 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities.
Volkan Okur, Zefu Chen, Liesbeth Vossaert, Sandra Peacock, Jill Rosenfeld, Shawn E McCandless

NPJ Genom Med· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A novel cause of emergent hyperammonemia: fungemia and meningitis.
William B Hannah, Gregory Nizialek, Katherine J Dempsey, Keith B Armitage, Shawn E McCandless

Mol Genet Metab Rep· December 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Incidence of strabismus, strabismus surgeries, and other vision conditions in Prader-Willi syndrome: data from the Global Prader-Willi Syndrome Registry.
Jessica E Bohonowych, Caroline J Vrana-Diaz, Jennifer L Miller, Shawn E McCandless, Theresa V Strong

BMC Ophthalmol· August 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.
Kimberly A Kripps, Peter R Baker, Janet A Thomas, Heather E Skillman, Laurie Bernstein, Shawn E McCandless

Mol Genet Metab· July 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis.
Susan Waisbren, Barbara K Burton, Annette Feigenbaum, Laura L Konczal, Joshua Lilienstein, Shawn E McCandless

Mol Genet Metab· February 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders.
Nicola Longo, George A Diaz, Uta Lichter-Konecki, Andreas Schulze, Michal Inbar-Feigenberg, Shawn E McCandless

Mol Genet Metab· January 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Automated syndrome diagnosis by three-dimensional facial imaging.
Benedikt Hallgrímsson, J David Aponte, David C Katz, Jordan J Bannister, Sheri L Riccardi, Shawn E McCandless

Genet Med· October 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Concerning "Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes" by Farwell Gonzalez et al.
Leighann Sremba, Shawn McCandless, Peter Baker

J Inherit Metab Dis· March 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Mandatory newborn screening in the United States: History, current status, and existential challenges.
Shawn E McCandless, Erica J Wright

Birth Defects Res· March 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Developing interactions with industry in rare diseases: lessons learned and continuing challenges.
Susan A Berry, Curtis R Coughlin, Shawn McCandless, Robert McCarter, Jennifer Seminara

Genet Med· January 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
R
Rare SUZ12 variants commonly cause an overgrowth phenotype.
Sharri S Cyrus, Ana S A Cohen, Ruky Agbahovbe, Kristiina Avela, Kit S Yeung, Shawn E McCandless

Am J Med Genet C Semin Med Genet· December 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Life-threatening presentations of propionic acidemia due to the Amish founder variant.
William B Hannah, Katherine J Dempsey, Lori-Anne P Schillaci, Michael Zacharias, Shawn E McCandless

Mol Genet Metab Rep· December 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The Global Prader-Willi Syndrome Registry: Development, Launch, and Early Demographics.
Jessica Bohonowych, Jennifer Miller, Shawn E McCandless, Theresa V Strong

Genes (Basel)· September 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
George A Diaz, Andreas Schulze, Nicola Longo, William Rhead, Annette Feigenbaum, Shawn E McCandless

Mol Genet Metab· August 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
I
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Roland Posset, Andrea L Gropman, Sandesh C S Nagamani, Lindsay C Burrage, Jirair K Bedoyan, Shawn E McCandless

Ann Neurol· July 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
Roland Posset, Sven F Garbade, Nikolas Boy, Alberto B Burlina, Carlo Dionisi-Vici, Shawn E McCandless

J Inherit Metab Dis· January 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis