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Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25.
Am J Med Genet A. 2011 Jun;155A(6):1336-51. doi: 10.1002/ajmg.a.34049. Epub 2011 May 5.
Am J Med Genet A. 2011.
PMID: 21548129
Free PMC article.
Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.
Gileta AF, Helgeson ML, Leonard JMM, Pyle LC, Subramanian HP, Arndt K, Hawkes CP, Del Gaudio D.
Gileta AF, et al. Among authors: helgeson ml.
Am J Med Genet A. 2021 Mar;185(3):889-893. doi: 10.1002/ajmg.a.62023. Epub 2020 Dec 23.
Am J Med Genet A. 2021.
PMID: 33369061
Free PMC article.
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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome.
Helgeson M, Keller-Ramey J, Knight Johnson A, Lee JA, Magner DB, Deml B, Deml J, Hu YY, Li Z, Donato K, Das S, Laframboise R, Tremblay S, Krantz I, Noon S, Hoganson G, Burton J, Schaaf CP, Del Gaudio D.
Helgeson M, et al.
J Hum Genet. 2018 Mar;63(3):349-356. doi: 10.1038/s10038-017-0387-6. Epub 2017 Dec 26.
J Hum Genet. 2018.
PMID: 29279609
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Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
McKnight D, Bean L, Karbassi I, Beattie K, Bienvenu T, Bonin H, Fang P, Chrisodoulou J, Friez M, Helgeson M, Krishnaraj R, Meng L, Mighion L, Neul J, Percy A, Ramsden S, Zoghbi H, Das S.
McKnight D, et al.
Hum Mutat. 2022 Aug;43(8):1097-1113. doi: 10.1002/humu.24302. Epub 2021 Dec 2.
Hum Mutat. 2022.
PMID: 34837432
Free PMC article.
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Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies.
Trottier AM, Druhan LJ, Kraft IL, Lance A, Feurstein S, Helgeson M, Segal JP, Das S, Avalos BR, Godley LA.
Trottier AM, et al.
Blood Adv. 2020 Oct 27;4(20):5269-5284. doi: 10.1182/bloodadvances.2020002013.
Blood Adv. 2020.
PMID: 33108454
Free PMC article.
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Frequency of Germline Mutations in Cancer Susceptibility Genes in Malignant Mesothelioma.
Panou V, Gadiraju M, Wolin A, Weipert CM, Skarda E, Husain AN, Patel JD, Rose B, Zhang SR, Weatherly M, Nelakuditi V, Knight Johnson A, Helgeson M, Fischer D, Desai A, Sulai N, Ritterhouse L, Røe OD, Turaga KK, Huo D, Segal J, Kadri S, Li Z, Kindler HL, Churpek JE.
Panou V, et al.
J Clin Oncol. 2018 Oct 1;36(28):2863-2871. doi: 10.1200/JCO.2018.78.5204. Epub 2018 Aug 16.
J Clin Oncol. 2018.
PMID: 30113886
Free PMC article.
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