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Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Maia N, et al. Among authors: mori m. Am J Med Genet A. 2023 Jan;191(1):135-143. doi: 10.1002/ajmg.a.63004. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271811 Free PMC article.
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
Melas M, Kautto EA, Franklin SJ, Mori M, McBride KL, Mosher TM, Pfau RB, Hernandez-Gonzalez ME, McGrath SD, Magrini VJ, White P, Samora JB, Koboldt DC, Wilson RK. Melas M, et al. Among authors: mori m. Hum Mutat. 2022 Feb;43(2):189-199. doi: 10.1002/humu.24304. Epub 2021 Dec 16. Hum Mutat. 2022. PMID: 34859533
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.
Lecerf K, Koboldt DC, Kuehn HS, Jayaraman V, Lee K, Mihalic Mosher T, Yonkof JR, Mori M, Hickey SE, Franklin S, Drew J, Akoghlanian S, Sivaraman V, Rosenzweig SD, Wilson RK, Abraham RS. Lecerf K, et al. Among authors: mori m. Rheumatology (Oxford). 2022 Dec 23;62(1):347-359. doi: 10.1093/rheumatology/keac227. Rheumatology (Oxford). 2022. PMID: 35412596 Free PMC article.
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.
Bedoyan JK, Hage R, Shin HK, Linard S, Ferren E, Ducich N, Wilson K, Lehman A, Schillaci LA, Manickam K, Mori M, Bartholomew D, DeBrosse S, Cohen B, Parikh S, Kerr D. Bedoyan JK, et al. Among authors: mori m. JIMD Rep. 2020 Aug 16;56(1):70-81. doi: 10.1002/jmd2.12153. eCollection 2020 Nov. JIMD Rep. 2020. PMID: 33204598 Free PMC article.
Somatic variation as an incidental finding in the pediatric next-generation sequencing era.
Melas M, Mathew MT, Mori M, Jayaraman V, Wilson SA, Martin C, Jacobson-Kelly AE, Kelly BJ, Magrini V, Mardis ER, Cottrell CE, Lee K. Melas M, et al. Among authors: mori m. Cold Spring Harb Mol Case Stud. 2021 Dec 9;7(6):a006135. doi: 10.1101/mcs.a006135. Print 2021 Dec. Cold Spring Harb Mol Case Stud. 2021. PMID: 34716204 Free PMC article.
Phenotypic Spectrum in a Family Sharing a Heterozygous KCNQ3 Variant.
Arredondo K, Myers C, Hansen-Kiss E, Mathew MT, Jayaraman V, Siemon A, Bartholomew D, Herman GE, Mori M. Arredondo K, et al. Among authors: mori m. J Child Neurol. 2022 May;37(6):517-523. doi: 10.1177/08830738221089741. Epub 2022 Apr 6. J Child Neurol. 2022. PMID: 35384780
9,788 results