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HGG Advances|April 3, 2023
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <i>TSPEAR</i>-related autosomal recessive ectodermal dysplasia 14Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, et al.
Nature Communications|May 26, 2026
Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expressionJacob Sampson, Ayellet V Segrè, Kinga M Bujakowska, et al.
American Journal of Human Genetics|December 26, 2017
Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental DisordersVíctor Faundes, William G Newman, Laura Bernardini, et al.
Journal of Inherited Metabolic Disease|June 10, 2019
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiencyIna Knerr, Roberto Colombo, Jill Urquhart, et al.
Molecular Genetics and Metabolism|December 3, 2014
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutationsSiddharth Banka, Christian de Goede, Wyatt W Yue, et al.
Annals of the Rheumatic Diseases|January 21, 2014
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesisSiddharth Banka, Stuart A Cain, Sabrya Carim, et al.
American Journal of Medical Genetics. Part A|July 17, 2025
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature ReviewSietse M Aukema, Kim Vandenput, Emanuela Scarano, et al.
American Journal of Human Genetics|February 12, 2011
Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiencySiddharth Banka, Henk J Blom, John Walter, et al.
Nature Genetics|May 29, 2025
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genesAdam Jackson, Nishi Thaker, Alexander Blakes, et al.
Ophthalmic Genetics|January 25, 2023
Individuals with heterozygous variants in the Wnt-signalling pathway gene <i>FZD5</i> delineate a phenotype characterized by isolated coloboma and variable expressivityRichard Holt, David Goudie, Alejandra Damián Verde, et al.
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