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Genes|February 26, 2025
16q24.3 Microdeletions Disrupting Upstream Non-Coding Region of ANKRD11 Cause KBG SyndromeAiko Iwata-Otsubo, Alyssa L Rippert, Jorune Balciuniene, et al.
The Journal of Pediatrics|November 3, 2023
Diagnostic Yield of Exome Sequencing in Pediatric CardiomyopathyJulia Keisling, Emma Bedoukian, Danielle S Burstein, et al.
Biochemistry|October 4, 2019
Exploiting the Disialyl Galactose Activity of α2,6-Sialyltransferase from Photobacterium damselae To Generate a Highly Sialylated Recombinant α-1-AntitrypsinEdward G Pallister, Matthew S F Choo, Jien-Nee Tai, et al.
American Journal of Medical Genetics. Part A|January 10, 2024
Recurrent missense variant identified in two unrelated families with MPZL2-related hearing loss, expanding the variant spectrum associated with DFNB111Emma Lo, Justin Blair, Nobuko Yamamoto, et al.
Circulation|February 24, 2017
Effect of Aggressive Blood Pressure Control on the Recurrence of Atrial Fibrillation After Catheter Ablation: A Randomized, Open-Label Clinical Trial (SMAC-AF [Substrate Modification With Aggressive Blood Pressure Control])Ratika Parkash, George A Wells, John L Sapp, et al.
Pediatrics|February 28, 2020
A Centralized Approach for Practicing Genomic MedicineSawona Biswas, Livija Medne, Batsal Devkota, et al.
Human Genetics|March 23, 2024
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorderAiko Iwata-Otsubo, Cara M Skraban, Atsunori Yoshimura, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 1, 2023
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrumJessica R C Priestley, Ashish R Deshwar, Harsha Murthy, et al.
Cancer Research|February 1, 2018
Discovery of Potent and Selective MRCK Inhibitors with Therapeutic Effect on Skin CancerMathieu Unbekandt, Simone Belshaw, Justin Bower, et al.
The Journal of Clinical Investigation|July 31, 2020
Multisystem inflammatory syndrome in children and COVID-19 are distinct presentations of SARS-CoV-2Caroline Diorio, Sarah E Henrickson, Laura A Vella, et al.
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