Konstantino M - Search Results

1

A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome.

Elfar W, Järvinen E, Ji W, Mosorin J, Sega AG, Iuga AC, Lobritto SJ, Konstantino M, Chan A, Finel M, Lakhani SA. Elfar W, et al. Among authors: konstantino m. Drug Metab Dispos. 2019 Jan;47(1):45-48. doi: 10.1124/dmd.118.084368. Epub 2018 Nov 1. Drug Metab Dispos. 2019. PMID: 30385458

2

Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.

Jeffries L, Olivieri JE, Ji W, Spencer-Manzon M, Bale A, Konstantino M, Lakhani SA. Jeffries L, et al. Among authors: konstantino m. Eur J Med Genet. 2019 Sep;62(9):103551. doi: 10.1016/j.ejmg.2018.10.003. Epub 2018 Oct 6. Eur J Med Genet. 2019. PMID: 30300710

3

De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.

Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA. Sega AG, et al. Among authors: konstantino m. J Med Genet. 2019 Feb;56(2):113-122. doi: 10.1136/jmedgenet-2018-105322. Epub 2018 Oct 15. J Med Genet. 2019. PMID: 30323019

4

A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death.

Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. Penque BA, et al. Among authors: konstantino m. Eur J Med Genet. 2019 Nov;62(11):103574. doi: 10.1016/j.ejmg.2018.11.008. Epub 2018 Nov 12. Eur J Med Genet. 2019. PMID: 30439532

5

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.

Sandokji I, Marquez J, Ji W, Zerillo CA, Konstantino M, Lakhani SA, Khokha MK, Warejko JK. Sandokji I, et al. Among authors: konstantino m. BMC Nephrol. 2019 Jul 17;20(1):271. doi: 10.1186/s12882-019-1458-z. BMC Nephrol. 2019. PMID: 31315584 Free PMC article.

6

The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN-associated AMC as a type of viable fetal akinesia deformation sequence.

Mis EK, Al-Ali S, Ji W, Spencer-Manzon M, Konstantino M, Khokha MK, Jeffries L, Lakhani SA. Mis EK, et al. Among authors: konstantino m. Am J Med Genet A. 2020 Oct;182(10):2291-2296. doi: 10.1002/ajmg.a.61783. Epub 2020 Aug 19. Am J Med Genet A. 2020. PMID: 32812332

7

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 Free PMC article.

8

A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.

Jeffries L, Shima H, Ji W, Panisello-Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S. Jeffries L, et al. Among authors: konstantino m. Am J Med Genet A. 2018 Feb;176(2):415-420. doi: 10.1002/ajmg.a.38557. Epub 2017 Dec 21. Am J Med Genet A. 2018. PMID: 29266745

9

A retrospective cohort analysis of the Yale pediatric genomics discovery program.

Al-Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang YH, Spencer-Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. Al-Ali S, et al. Among authors: konstantino m. Am J Med Genet A. 2022 Oct;188(10):2869-2878. doi: 10.1002/ajmg.a.62918. Epub 2022 Jul 28. Am J Med Genet A. 2022. PMID: 35899841 Free PMC article.

10

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.

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