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BMC Neurology|March 4, 2024
Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case reportAmeya S Walimbe, Keren Machol, Stephen F Kralik, et al.
American Journal of Medical Genetics. Part A|December 21, 2018
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literatureMaureen Handoko, Lisa T Emrick, Jill A Rosenfeld, et al.
American Journal of Medical Genetics. Part A|July 22, 2014
Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytesLisa T Emrick, Lauren Murphy, Alireza A Shamshirsaz, et al.
Epilepsia|September 16, 2025
De novo pathogenic CSF1R variant implicates microglial dysfunction in pathogenesis of febrile infection-related epilepsy syndromeKristen S Fisher, Jesse M Levine, Alexander Ankar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testingJessica X Chong, Seth I Berger, Samantha Baxter, et al.
Biorxiv : the Preprint Server for Biology|February 19, 2024
Considerations for reporting variants in novel candidate genes identified during clinical genomic testingJessica X Chong, Seth I Berger, Samantha Baxter, et al.
Frontiers in Neuroscience|February 22, 2020
Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate DiagnosisAdam D Kennedy, Kirk L Pappan, Taraka Donti, et al.
Frontiers in Neuroscience|May 29, 2019
2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate DiagnosisAdam D Kennedy, Kirk L Pappan, Taraka Donti, et al.
Molecular Genetics and Metabolism Reports|August 10, 2016
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrumTaraka R Donti, Gerarda Cappuccio, Leroy Hubert, et al.
Clinical Genetics|May 9, 2023
Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traitsHasnaa M Elbendary, Dana Marafi, Ahmed K Saad, et al.
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