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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2006 1
2007 1
2008 1
2010 2
2011 8
2012 7
2013 6
2014 14
2015 6
2016 5
2017 2
2018 3
2019 6
2020 6
2021 4
2022 8
2023 10
2024 9
2025 14

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94 results

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Page 1
ARF1-related disorder: phenotypic and molecular spectrum.
de Sainte Agathe JM, Pode-Shakked B, Naudion S, Michaud V, Arveiler B, Fergelot P, Delmas J, Keren B, Poirsier C, Alkuraya FS, Tabarki B, Bend E, Davis K, Bebin M, Thompson ML, Bryant EM, Wagner M, Hannibal I, Lenberg J, Krenn M, Wigby KM, Friedman JR, Iascone M, Cereda A, Miao T, LeGuern E, Argilli E, Sherr E, Caluseriu O, Tidwell T, Bayrak-Toydemir P, Hagedorn C, Brugger M, Vill K, Morneau-Jacob FD, Chung W, Weaver KN, Owens JW, Husami A, Chaudhari BP, Stone BS, Burns K, Li R, de Lange IM, Biehler M, Ginglinger E, Gérard B, Stottmann RW, Trimouille A. de Sainte Agathe JM, et al. Among authors: chaudhari bp. J Med Genet. 2023 Oct;60(10):999-1005. doi: 10.1136/jmg-2022-108803. Epub 2023 Apr 25. J Med Genet. 2023. PMID: 37185208 Free PMC article.
Feasibility of newborn screening for pyridoxine-dependent epilepsy.
Pauly K, Woontner M, Abdenur JE, Chaudhari BP, Gosselin R, Kripps KA, Thomas JA, Wempe MF, Gospe SM Jr, Coughlin CR 2nd. Pauly K, et al. Among authors: chaudhari bp. Mol Genet Metab. 2025 Jan;144(1):109002. doi: 10.1016/j.ymgme.2024.109002. Epub 2024 Dec 16. Mol Genet Metab. 2025. PMID: 39729892
Genetic testing for diffuse lung diseases in children.
Hamvas A, Chaudhari BP, Nogee LM. Hamvas A, et al. Among authors: chaudhari bp. Pediatr Pulmonol. 2024 Sep;59(9):2286-2297. doi: 10.1002/ppul.26447. Epub 2023 May 16. Pediatr Pulmonol. 2024. PMID: 37191361 Review.
NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates.
Antoniou AA, McGinley R, Metzler M, Chaudhari BP. Antoniou AA, et al. Among authors: chaudhari bp. medRxiv [Preprint]. 2024 Jun 25:2024.06.24.24309403. doi: 10.1101/2024.06.24.24309403. medRxiv. 2024. PMID: 38978650 Free PMC article. Preprint.
94 results