Colorado PROFILES, The Colorado Clinical and Translational Sciences Institute (CCTSI)
Keywords
Last Name
Institution

Contact Us
If you have any questions or feedback please contact us.

Connection

Farrah Rajabi to Mutation

This is a "connection" page, showing publications Farrah Rajabi has written about Mutation.

 
Connection Strength
 
 
 
0.413
 
  1. Rajabi F, Rohr F, Wessel A, Martell L, Dobrowolski SF, Guldberg P, G?ttler F, Levy HL. Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study. Mol Genet Metab. 2019 12; 128(4):415-421.
    View in: PubMed
    Score: 0.326
  2. Elhusseiny AM, Jabroun M, Rajabi F, Gonzalez E, Alkharashi M. A novel variant in the TSPAN12 gene-presenting as unilateral myopia, pediatric cataract, and heterochromia in a patient with familial exudative vitreoretinopathy. Eur J Ophthalmol. 2022 Nov; 32(6):NP6-NP9.
    View in: PubMed
    Score: 0.023
  3. Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ?L, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Med. 2021 05 21; 13(1):90.
    View in: PubMed
    Score: 0.023
  4. Bhoj EJ, Rajabi F, Baker SW, Santani A, Tan WH. Imprinted genes in clinical exome sequencing: Review of 538 cases and exploration of mouse-human conservation in the identification of novel human disease loci. Eur J Med Genet. 2020 Jun; 63(6):103903.
    View in: PubMed
    Score: 0.021
  5. Rodan LH, Anyane-Yeboa K, Chong K, Klein Wassink-Ruiter JS, Wilson A, Smith L, Kothare SV, Rajabi F, Blaser S, Ni M, DeBerardinis RJ, Poduri A, Berry GT. Gain-of-function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities. Am J Med Genet A. 2018 12; 176(12):2554-2560.
    View in: PubMed
    Score: 0.019
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

Copyright © 2024 The Regents of the University of Colorado, a body corporate. All rights reserved. (Harvard PROFILES RNS software version: 2.11.1)