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Pediatric Neurology|November 13, 2024
Biallelic Variants in LIPT2 as a Cause of Infantile-Onset Dystonia: Expanding the Clinical and Molecular SpectrumKuntal Sen, Alonso Zea Vera, Anna Puronurmi, et al.
American Journal of Medical Genetics. Part A|November 30, 2020
Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomasSarah E Sheppard, Brett Barrett, Colleen Muraresku, et al.
Molecular Genetics and Metabolism|February 26, 2022
Early developmental delay in Leigh syndrome spectrum disorders is associated with poor clinical prognosisRory J Tinker, Marni J Falk, Amy Goldstein, et al.
Surgery|December 8, 2007
Increased prevalence of breast cancer among patients with thyroid and parathyroid diseaseCarolyn N Garner, Rebecca Ganetzky, Jennifer Brainard, et al.
American Journal of Medical Genetics. Part A|April 28, 2015
Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnosesYuri A Zarate, Katherine A Bosanko, Elizabeth Bhoj, et al.
Journal of Inherited Metabolic Disease|December 10, 2024
Executive and adaptive function impacts long-term outcomes for adults with maple syrup urine diseaseJessica I Gold, Alanna Strong, Nina B Gold, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 22, 2025
Recognizing the evolution of clinical syndrome spectrum progression in individuals with single large-scale mitochondrial DNA deletion syndromes (SLSMDS)Rebecca Ganetzky, Katelynn D Stanley, Laura E MacMullen, et al.
Pediatric Critical Care Medicine : a Journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies|July 6, 2019
Matched Retrospective Cohort Study of Thiamine to Treat Persistent Hyperlactatemia in Pediatric Septic ShockScott L Weiss, Bridget Blowey, Luke Keele, et al.
Molecular Genetics and Metabolism|January 24, 2021
TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementationChaya N Murali, Claudia Soler-Alfonso, Kathleen M Loomes, et al.
Human Mutation|March 15, 2019
Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlationEmanuele G Coci, Vytautas Gapsys, Natasha Shur, et al.
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