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Plos Genetics|July 7, 2021
A homozygous stop-gain variant in ARHGAP42 is associated with childhood interstitial lung disease, systemic hypertension, and immunological findingsQifei Li, Michal Dibus, Alicia Casey, et al.Journal of Clinical Pharmacology|December 19, 2003
Pharmacokinetics of etoricoxib in patients with renal impairmentNancy G B Agrawal, Catherine Z Matthews, Ralph S Mazenko, et al.Journal of Medical Internet Research|March 16, 2021
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort StudyJianqiao Li, Margaret A Hojlo, Sampath Chennuri, et al.European Journal of Human Genetics : EJHG|October 28, 2021
ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrumAnge-Line Bruel, Antonio Vitobello, Isabelle Thiffault, et al.BMC Pediatrics|July 11, 2018
The BabySeq project: implementing genomic sequencing in newbornsIngrid A Holm, Pankaj B Agrawal, Ozge Ceyhan-Birsoy, et al.Human Molecular Genetics|October 19, 2020
De novo variants in MPP5 cause global developmental delay and behavioral changesNoelle Sterling, Anna R Duncan, Raehee Park, et al.The Journal of Pediatrics|November 27, 2024
SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical SyndromeMary P Mullen, D Dunbar Ivy, Nidhy P Varghese, et al.Molecular Genetics and Metabolism Reports|June 21, 2018
De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndromeAlcy Torres, Catherine A Brownstein, Sahil K Tembulkar, et al.Med (New York, N.Y.)|February 28, 2025
A progranulin variant causing childhood interstitial lung disease responsive to anti-TNF-α biologic therapyJohn C Kennedy, Sara O Vargas, Martha P Fishman, et al.Human Mutation|January 30, 2022
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiencyYoel Gofin, Tianyun Wang, Madelyn A Gillentine, et al.Pageof 83