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European Journal of Human Genetics : EJHG|March 2, 2021
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain developmentJulie A Jurgens, Brenda J Barry, Gabrielle Lemire, et al.
American Journal of Human Genetics|November 26, 2020
Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in HumansFatema Alzahrani, Hiroyuki Kuwahara, Yongkang Long, et al.
Medrxiv : the Preprint Server for Health Sciences|September 4, 2024
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
American Journal of Human Genetics|January 25, 2025
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detectionShloka Negi, Sarah L Stenton, Seth I Berger, et al.
American Journal of Human Genetics|September 29, 2021
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomaliesGabrielle Lemire, Yoko A Ito, Aren E Marshall, et al.
Human Mutation|March 10, 2022
seqr: A web-based analysis and collaboration tool for rare disease genomicsLynn S Pais, Hana Snow, Ben Weisburd, et al.
Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesMaggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
American Journal of Human Genetics|September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesTaylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 14, 2023
LHX2 haploinsufficiency causes a variable neurodevelopmental disorderCosima M Schmid, Anne Gregor, Gregory Costain, et al.
Human Molecular Genetics|February 11, 2022
Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial diseaseRichard G Lee, Shanti Balasubramaniam, Maike Stentenbach, et al.
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