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American Journal of Medical Genetics. Part A|August 18, 2017
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathyMegan Abbott, Mahim Jain, Rachel Pferdehirt, et al.
HGG Advances|October 18, 2025
Two commonly reported incidental variants in OTC are associated with late-onset diseaseSteven H Lang, Russell S Lo, Gareth A Cromie, et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society|March 15, 2024
Generation of a humanized mAce2 and a conditional hACE2 mouse models permissive to SARS-COV-2 infectionI-Wen Song, Megan Washington, Carolina Leynes, et al.
Disease Models & Mechanisms|July 24, 2023
Delayed skeletal development and IGF-1 deficiency in a mouse model of lysinuric protein intoleranceBridget M Stroup, Xiaohui Li, Sara Ho, et al.
Medrxiv : the Preprint Server for Health Sciences|May 7, 2024
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversionsKristine Bilgrav Saether, Jesper Eisfeldt, Jesse Bengtsson, et al.
Mitochondrion|January 9, 2018
Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6Austin A Larson, Shanti Balasubramaniam, John Christodoulou, et al.
American Journal of Medical Genetics. Part A|August 21, 2025
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid MosaicismRussell Stewart, Kimberly M Ezell, Deanna S Bell, et al.
American Journal of Medical Genetics. Part A|May 5, 2021
A novel de novo intronic variant in ITPR1 causes Gillespie syndromeLaura Keehan, Ming-Ming Jiang, Xiaohui Li, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 4, 2019
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 4, 2019
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defectMathilde Nizon, Vincent Laugel, Kevin M Flanigan, et al.
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