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Farrah Rajabi

TitleAsst Professor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus
DepartmentSOM-PEDS

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Liu Z, Xin B, Smith IN, Sency V, Szekely J, Alkelai A, Shuldiner A, Efthymiou S, Rajabi F, Coury S, Brownstein CA, Rudnik-Sch?neborn S, Bruel AL, Thevenon J, Zeidler S, Jayakar P, Schmidt A, Cremer K, Engels H, Peters SO, Zaki MS, Duan R, Zhu C, Xu Y, Gao C, Sepulveda-Morales T, Maroofian R, Alkhawaja IA, Khawaja M, Alhalasah H, Houlden H, Madden JA, Turchetti V, Marafi D, Agrawal PB, Schatz U, Rotenberg A, Rotenberg J, Mancini GMS, Bakhtiari S, Kruer M, Thiffault I, Hirsch S, Hempel M, St?hn LG, Haack TB, Posey JE, Lupski JR, Lee H, Sarn NB, Eng C, Gonzaga-Jauregui C, Zhang B, Wang H. Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. Hum Mol Genet. 2023 Oct 04; 32(20):2981-2995. PMID: 37531237.
      View in: PubMed
    2. Li Q, Agrawal R, Schmitz-Abe K, Genetti CA, Fernandes MA, Fryou NL, Madden JA, Brownstein CA, Smith EC, Rajabi F, Beggs AH, Agrawal PB. Reanalysis of clinical exome identifies the second variant in two individuals with recessive disorders. Eur J Hum Genet. 2023 06; 31(6):712-715. PMID: 36690831.
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    3. Chiou CA, Rajabi F, Fulton AB, Acsadi G, Waitzman DM, Gaier ED. Membrane Frizzled-Related Protein-Related Disease Mimicking Idiopathic Intracranial Hypertension. J Neuroophthalmol. 2022 Oct 18. PMID: 36255095.
      View in: PubMed
    4. K?ry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denomm?-Pichon AS, Cogn? B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, ?unap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Br?h?ret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, P?rez-Pe?a H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Mart?nez F, B?zieau S, Kahle KT, Isidor B. Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genet Med. 2022 09; 24(9):1941-1951. PMID: 35678782.
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    5. Hoyek S, Lin LY, Kozek LK, Gonzalez E, Rajabi F, Patel NA. Bilateral consecutive choroidal neovascularization in Best vitelliform macular dystrophy. Proc (Bayl Univ Med Cent). 2022; 35(4):562-564. PMID: 35754583.
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    6. Steele JL, Morrow MM, Sarnat HB, Alkhunaizi E, Brandt T, Chitayat DA, DeFilippo CP, Douglas GV, Dubbs HA, Elloumi HZ, Glassford MR, Hannibal MC, H?ron B, Kim LE, Marco EJ, Mignot C, Monaghan KG, Myers KA, Parikh S, Quinonez SC, Rajabi F, Shankar SP, Shinawi MS, van de Kamp JJP, Veerapandiyan A, Waldman AT, Graf WD. Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability Syndrome. Pediatr Neurol. 2022 01; 126:65-73. PMID: 34740135.
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    7. 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. PMID: 34151585.
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    8. 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. PMID: 34020708.
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    9. Azova S, Rajabi F, Modi BP, Mansfield L, Jonas MM, Drobysheva A, Boyd TK, Wassner AJ, Smith JR. Graves' disease in a five-month-old boy with an unusual treatment course. J Pediatr Endocrinol Metab. 2021 Mar 26; 34(3):401-406. PMID: 33675208.
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    10. Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, Roosendaal SD, Dehghani M, Mehrjardi MYV, Torti E, Houlden H, Maroofian R, Rajabi F, Sticht H, Baas F, Wieczorek D, Jamra RA. Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. Eur J Hum Genet. 2021 03; 29(3):411-421. PMID: 33168985.
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    11. 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. PMID: 32169557.
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    12. 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. PMID: 31623983.
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    13. 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. PMID: 30475435.
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    14. Rajabi F. Updates in Newborn Screening. Pediatr Ann. 2018 May 01; 47(5):e187-e190. PMID: 29750285.
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    15. Gold NB, Blumenthal JA, Wessel AE, Stein DR, Scott A, Fox VL, Turner A, Kritzer A, Rajabi F, Peeler K, Tan WH. Acute Pancreatitis in a Patient with Maple Syrup Urine Disease: A Management Paradox. J Pediatr. 2018 07; 198:313-316. PMID: 29681447.
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    16. Rajabi F, Rodan LH, Jonas MM, Soul JS, Ullrich NJ, Wessel A, Waisbren SE, Tan WH, Berry GT. Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. JIMD Rep. 2018; 40:17-22. PMID: 28887792.
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    17. Rosenblatt DS, Watkins D, Rajabi F, Levy HL. Confounding factors in identification of disease-resilient individuals. Nat Biotechnol. 2016 11 08; 34(11):1103-1104. PMID: 27824855.
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    18. Rajabi F, Levy HL. Hyperphenylalaninemia and the genomic revolution. Mol Genet Metab. 2015 Mar; 114(3):380-1. PMID: 25549965.
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