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Year Number of Results
1997 1
2010 1
2017 1
2018 5
2019 6
2020 3
2021 3
2022 0
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14 results
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Page 1
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
Marquez J, Mann N, Arana K, Deniz E, Ji W, Konstantino M, Mis EK, Deshpande C, Jeffries L, McGlynn J, Hugo H, Widmeier E, Konrad M, Tasic V, Morotti R, Baptista J, Ellard S, Lakhani SA, Hildebrandt F, Khokha MK. Marquez J, et al. Among authors: konstantino m. J Med Genet. 2021 Jul;58(7):453-464. doi: 10.1136/jmedgenet-2019-106805. Epub 2020 Jul 6. J Med Genet. 2021. PMID: 32631816 Free PMC article.
Expansion of NEUROD2 phenotypes to include developmental delay without seizures.
Mis EK, Sega AG, Signer RH, Cartwright T, Ji W, Martinez-Agosto JA, Nelson SF, Palmer CGS, Lee H, Mitzelfelt T, Konstantino M; Undiagnosed Diseases Network, Jeffries L, Khokha MK, Marco E, Martin MG, Lakhani SA. Mis EK, et al. Among authors: konstantino m. Am J Med Genet A. 2021 Apr;185(4):1076-1080. doi: 10.1002/ajmg.a.62064. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33438828
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ. Alharatani R, et al. Among authors: konstantino m. Hum Mol Genet. 2020 Jul 21;29(11):1900-1921. doi: 10.1093/hmg/ddaa050. Hum Mol Genet. 2020. PMID: 32196547 Free PMC article.
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum.
Kiraly-Borri C, Jevon G, Ji W, Jeffries L, Ricciardi JL, Konstantino M, Ackerman KG, Lakhani SA. Kiraly-Borri C, et al. Among authors: konstantino m. Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3):a003699. doi: 10.1101/mcs.a003699. Print 2019 Jun. Cold Spring Harb Mol Case Stud. 2019. PMID: 30819764 Free PMC article.
14 results