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Year Number of Results
2014 1
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2019 2
2020 3
2021 3
2022 5
2023 3
2024 1

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14 results

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Page 1
A Centralized Approach for Practicing Genomic Medicine.
Biswas S, Medne L, Devkota B, Bedoukian E, Berrodin D, Izumi K, Deardorff MA, Tarpinian J, Leonard J, Pyle L, Gray C, Montgomery J, Williams T, Fortunato S, Weatherly J, McEldrew D, Kaur M, Raible SE, Wilkens A, Spinner NB, Skraban C, Krantz ID. Biswas S, et al. Among authors: leonard j. Pediatrics. 2020 Mar;145(3):e20190855. doi: 10.1542/peds.2019-0855. Epub 2020 Feb 26. Pediatrics. 2020. PMID: 32102930 Free PMC article.
MYH7 variants cause complex congenital heart disease.
Ritter A, Leonard J, Gray C, Izumi K, Levinson K, Nair DR, O'Connor M, Rossano J, Shankar V, Chowns J, Marzolf A, Owens A, Ahrens-Nicklas RC. Ritter A, et al. Among authors: leonard j. Am J Med Genet A. 2022 Sep;188(9):2772-2776. doi: 10.1002/ajmg.a.62766. Epub 2022 May 2. Am J Med Genet A. 2022. PMID: 35491958
Expanding the reproductive organ phenotype of CHD7-spectrum disorder.
Nomakuchi TT, Danowitz M, Stewart B, Leonard J, Izumi K, Krantz I, Kolon TF, Langdon D, Skraban C, Van Batavia J, Zackai E, Jiao K, Linn R, Alexander C, Zaontz M, Vogiatzi MG, Pyle LC. Nomakuchi TT, et al. Among authors: leonard j. Am J Med Genet A. 2023 May;191(5):1418-1424. doi: 10.1002/ajmg.a.63148. Epub 2023 Feb 16. Am J Med Genet A. 2023. PMID: 36794641
Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.
Angelozzi M, Karvande A, Molin AN, Ritter AL, Leonard JMM, Savatt JM, Douglass K, Myers SM, Grippa M, Tolchin D, Zackai E, Donoghue S, Hurst ACE, Descartes M, Smith K, Velasco D, Schmanski A, Crunk A, Tokita MJ, de Lange IM, van Gassen K, Robinson H, Guegan K, Suri M, Patel C, Bournez M, Faivre L, Tran-Mau-Them F, Baker J, Fabie N, Weaver K, Shillington A, Hopkin RJ, Barge-Schaapveld DQCM, Ruivenkamp CA, Bökenkamp R, Vergano S, Seco Moro MN, Díaz de Bustamante A, Misra VK, Kennelly K, Rogers C, Friedman J, Wigby KM, Lenberg J, Graziano C, Ahrens-Nicklas RC, Lefebvre V. Angelozzi M, et al. Among authors: leonard jmm. J Med Genet. 2022 Nov;59(11):1058-1068. doi: 10.1136/jmedgenet-2021-108375. Epub 2022 Mar 1. J Med Genet. 2022. PMID: 35232796 Free PMC article.
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.
Keisling J, Bedoukian E, Burstein DS, Gaynor JW, Gray C, Krantz I, Izumi K, Leonard J, Lin KY, Medne L, Seymour C, Skraban C, Rippert AL, Ahrens-Nicklas RC. Keisling J, et al. Among authors: leonard j. J Pediatr. 2024 Feb;265:113808. doi: 10.1016/j.jpeds.2023.113808. Epub 2023 Nov 3. J Pediatr. 2024. PMID: 37923198
Clinical utility of exome sequencing in infantile heart failure.
Ritter A, Bedoukian E, Berger JH, Copenheaver D, Gray C, Krantz I, Izumi K, Juusola J, Leonard J, Lin K, Medne L, Santani A, Skraban C, Yang S, Ahrens-Nicklas RC. Ritter A, et al. Among authors: leonard j. Genet Med. 2020 Feb;22(2):423-426. doi: 10.1038/s41436-019-0654-3. Epub 2019 Sep 17. Genet Med. 2020. PMID: 31527676 Free PMC article.
14 results