Marchi EJ - Search Results

1

Longitudinal telomere shortening and early Alzheimer's disease progression in adults with down syndrome.

Jenkins EC, Marchi EJ, Velinov MT, Ye L, Krinsky-McHale SJ, Zigman WB, Schupf N, Silverman WP. Jenkins EC, et al. Among authors: marchi ej. Am J Med Genet B Neuropsychiatr Genet. 2017 Dec;174(8):772-778. doi: 10.1002/ajmg.b.32575. Epub 2017 Aug 30. Am J Med Genet B Neuropsychiatr Genet. 2017. PMID: 28856789

2

Folate receptor autoantibodies are prevalent in children diagnosed with autism spectrum disorder, their normal siblings and parents.

Quadros EV, Sequeira JM, Brown WT, Mevs C, Marchi E, Flory M, Jenkins EC, Velinov MT, Cohen IL. Quadros EV, et al. Autism Res. 2018 May;11(5):707-712. doi: 10.1002/aur.1934. Epub 2018 Feb 2. Autism Res. 2018. PMID: 29394471

3

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.

Lyon GJ, Marchi E, Ekstein J, Meiner V, Hirsch Y, Scher S, Yang E, De Vivo DC, Madrid R, Li Q, Wang K, Haworth A, Chilton I, Chung WK, Velinov M. Lyon GJ, et al. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003715. doi: 10.1101/mcs.a003715. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31387860 Free PMC article.

4

An improved method for detecting telomere size differences in T-lymphocyte interphases from older people with Down syndrome with and without mild cognitive impairment.

Jenkins EC, Ye L, Marchi E, Krinsky-McHale SJ, Zigman WB, Schupf N, Silverman WP. Jenkins EC, et al. Biol Methods Protoc. 2017 May 4;2(1):bpx005. doi: 10.1093/biomethods/bpx005. eCollection 2017 Jan. Biol Methods Protoc. 2017. PMID: 32161788 Free PMC article.

5

Diagnosis of late-infantile neuronal ceroid lipofuscinosis using dried blood spot-based assay for TPPI enzyme activity: TPPI diagnostic assay from DBS.

Gavin M, Khatoon S, Marchi EJ, Mevs CA, Bolton DC, Velinov MT, Junaid MA. Gavin M, et al. Among authors: marchi ej. Clin Chim Acta. 2020 Aug;507:62-68. doi: 10.1016/j.cca.2020.04.010. Epub 2020 Apr 13. Clin Chim Acta. 2020. PMID: 32298681

6

Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity.

Kleyner R, Arif M, Marchi E, Horowitz N, Haworth A, King B, Gavin M, Amble K, Velinov M, Lyon GJ. Kleyner R, et al. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006137. doi: 10.1101/mcs.a006137. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 34716203 Free PMC article.

7

Phenotypic variability and gastrointestinal manifestations/interventions for growth in NAA10-related neurodevelopmental syndrome.

Sandomirsky K, Marchi E, Gavin M, Amble K, Lyon GJ. Sandomirsky K, et al. Am J Med Genet A. 2023 May;191(5):1293-1300. doi: 10.1002/ajmg.a.63152. Epub 2023 Feb 21. Am J Med Genet A. 2023. PMID: 36810866 Free PMC article.

8

Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome.

Kierzkowska O, Sarino K, Carter D, Guo L, Marchi E, Voronova A, Lyon GJ. Kierzkowska O, et al. Am J Med Genet A. 2023 Sep;191(9):2364-2375. doi: 10.1002/ajmg.a.63311. Epub 2023 May 25. Am J Med Genet A. 2023. PMID: 37226940

9

Ocular manifestations in a cohort of 43 patients with KBG syndrome.

Carter DC, Kierzkowska O, Sarino K, Guo L, Marchi E, Lyon GJ. Carter DC, et al. Am J Med Genet A. 2024 Apr;194(4):e63473. doi: 10.1002/ajmg.a.63473. Epub 2023 Nov 14. Am J Med Genet A. 2024. PMID: 37964495

10

Longitudinal adaptive behavioral outcomes in Ogden syndrome by seizure status and therapeutic intervention.

Makwana R, Christ C, Marchi E, Harpell R, Lyon GJ. Makwana R, et al. Am J Med Genet A. 2024 Sep;194(9):e63651. doi: 10.1002/ajmg.a.63651. Epub 2024 May 15. Am J Med Genet A. 2024. PMID: 38747166

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