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Year Number of Results
2011 3
2012 2
2013 1
2014 1
2015 1
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2020 3
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2022 3
2023 0

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Page 1
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode.
Marafi D, Kozar N, Duan R, Bradley S, Yokochi K, Al Mutairi F, Saadi NW, Whalen S, Brunet T, Kotzaeridou U, Choukair D, Keren B, Nava C, Kato M, Arai H, Froukh T, Faqeih EA, AlAsmari AM, Saleh MM, Pinto E Vairo F, Pichurin PN, Klee EW, Schmitz CT, Grochowski CM, Mitani T, Herman I, Calame DG, Fatih JM, Du H, Coban-Akdemir Z, Pehlivan D, Jhangiani SN, Gibbs RA, Miyatake S, Matsumoto N, Wagstaff LJ, Posey JE, Lupski JR, Meijer D, Wagner M. Marafi D, et al. Among authors: schmitz ct. Am J Hum Genet. 2022 Sep 1;109(9):1713-1723. doi: 10.1016/j.ajhg.2022.07.006. Epub 2022 Aug 9. Am J Hum Genet. 2022. PMID: 35948005 Free PMC article.
A homozygous missense variant in UBE2T is associated with a mild Fanconi anemia phenotype.
Schultz-Rogers L, Lach FP, Rickman KA, Ferrer A, Mangaonkar AA, Schwab TL, Schmitz CT, Clark KJ, Dsouza NR, Zimmermann MT, Litzow M, Jacobi N, Klee EW, Smogorzewska A, Patnaik MM. Schultz-Rogers L, et al. Among authors: schmitz ct. Haematologica. 2021 Apr 1;106(4):1188-1192. doi: 10.3324/haematol.2020.259275. Haematologica. 2021. PMID: 32646888 Free PMC article. No abstract available.
Haploinsufficiency as a disease mechanism in GNB1-associated neurodevelopmental disorder.
Schultz-Rogers L, Masuho I, Pinto E Vairo F, Schmitz CT, Schwab TL, Clark KJ, Gunderson L, Pichurin PN, Wierenga K, Martemyanov KA, Klee EW. Schultz-Rogers L, et al. Among authors: schmitz ct. Mol Genet Genomic Med. 2020 Nov;8(11):e1477. doi: 10.1002/mgg3.1477. Epub 2020 Sep 12. Mol Genet Genomic Med. 2020. PMID: 32918542 Free PMC article.
17 results