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Annals of Neurology|December 23, 2011
Glut1 deficiency syndrome and erythrocyte glucose uptake assayHong Yang, Dong Wang, Kristin Engelstad, et al.
Prenatal Diagnosis|March 24, 2023
Investigation into the genetics of fetal congenital lymphatic anomaliesDaniella Rogerson, Anna Alkelai, Jessica Giordano, et al.
Cold Spring Harbor Molecular Case Studies|July 21, 2018
Exome sequencing of an adolescent with nonalcoholic fatty liver disease identifies a clinically actionable case of Wilson diseaseJulia Wattacheril, Patrick R Shea, Saeed Mohammad, et al.
Molecular Genetics and Metabolism|March 7, 2024
ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromesJennifer Goldstein, Amanda Thomas-Wilson, Emily Groopman, et al.
JAMA Cardiology|December 16, 2020
Assessing the Role of Rare Genetic Variation in Patients With Heart FailureGundula Povysil, Olympe Chazara, Keren J Carss, et al.
Lancet (London, England)|February 5, 2019
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort studySlavé Petrovski, Vimla Aggarwal, Jessica L Giordano, et al.
Molecular Psychiatry|November 20, 2021
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disordersAnna Alkelai, Lior Greenbaum, Anna R Docherty, et al.
The New England Journal of Medicine|August 14, 2020
Causal Genetic Variants in StillbirthKate E Stanley, Jessica Giordano, Vanessa Thorsten, et al.
Human Mutation|May 4, 2021
Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem diseaseGerarda Cappuccio, Camilla Ceccatelli Berti, Enrico Baruffini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disordersHalie J May, Jaehoon Jeong, Anya Revah-Politi, et al.
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