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International Journal of Dermatology|November 19, 2015
Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosisRahim Ullah, Muhammad Ansar, Zaka Ullah Durrani, et al.
Nature|January 15, 2025
Massively parallel characterization of transcriptional regulatory elementsVikram Agarwal, Fumitaka Inoue, Max Schubach, et al.
Nature Genetics|May 17, 2011
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutationsBrian J O'Roak, Pelagia Deriziotis, Choli Lee, et al.
Nature Protocols|July 10, 2020
lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elementsM Grace Gordon, Fumitaka Inoue, Beth Martin, et al.
Influenza and Other Respiratory Viruses|January 7, 2023
Results from a test-and-treat study for influenza among residents of homeless shelters in King County, WA: A stepped-wedge cluster-randomized trialJulia H Rogers, Amanda M Casto, Gift Nwanne, et al.
Stroke|October 4, 2014
RNF213 rare variants in an ethnically diverse population with Moyamoya diseaseAlana C Cecchi, Dongchuan Guo, Zhao Ren, et al.
BMC Medical Genetics|February 17, 2016
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIPKhadim Shah, Raja Hussain Ali, Muhammad Ansar, et al.
Annals of Neurology|January 21, 2015
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasiaAlissa M D'Gama, Ying Geng, Javier A Couto, et al.
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