Farrah Rajabi, MD

Assistant Professor, Pediatrics-Clinical Genetics and Metabolism

FacultyPhoto
Medical School
  • MD, The University of Toledo College of Medicine (2010)
Undergraduate School
  • BA, University of Colorado - Boulder (CO) (2005)
Residency
  • Wake Forest University School of Medicine Program, Pediatrics (2013)
Fellowships
  • Harvard University/Boston Children's Hospital Program, Medical Genetics and Genomics (2016)
  • Harvard University/Boston Children's Hospital Program, Medical Biochemical Genetics (2017)
Languages
English
Department
Pediatrics-Clinical Genetics and Metabolism

Professional Titles

  • Assistant Professor

Publications

  • Liu Z, Xin B, Smith IN, Sency V, Szekely J, Alkelai A, Shuldiner A, Efthymiou S, Rajabi F, Coury S, Brownstein CA, Rudnik-Schöneborn 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, Stühn 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 4;32(20):2981-2995. PubMed PMID: 37531237
  • Küry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné 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, Õunap 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, Bréhéret 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, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genet Med. 2022 Sep;24(9):1941-1951. PubMed PMID: 35678782
  • 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. PubMed PMID: 34151585
  • Steele JL, Morrow MM, Sarnat HB, Alkhunaizi E, Brandt T, Chitayat DA, DeFilippo CP, Douglas GV, Dubbs HA, Elloumi HZ, Glassford MR, Hannibal MC, Héron 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 Jan;126:65-73. PubMed PMID: 34740135
  • Yavuz Saricay L, Baldwin G, Moulton EA, Gonzalez E, Rajabi F, Hunter DG, Fulton AB. Refractive errors in patients with Bardet Biedl syndrome. Ophthalmic Genet. 2024 Oct;45(5):435-440. PubMed PMID: 38953718
  • Chiou CA, Rajabi F, Fulton AB, Acsadi G, Waitzman DM, Gaier ED. Membrane Frizzled-Related Protein-Related Disease Mimicking Idiopathic Intracranial Hypertension. J Neuroophthalmol. 2024 Mar 1;44(1):e26-e28. PubMed PMID: 36255095
  • Ayash J, Woods RL, Akula JD, Rajabi F, Alwattar BK, Altschwager P, Fulton AB. Characteristics of Eyes With CRB1-Associated EOSRD/LCA: Age-Related Changes. Am J Ophthalmol. 2024 Jul;263:168-178. PubMed PMID: 38461945
  • Huang Y, Jay KL, Yen-Wen Huang A, Wan J, Jangam SV, Chorin O, Rothschild A, Barel O, Mariani M, Iascone M, Xue H, Huang J, Mignot C, Keren B, Saillour V, Mah-Som AY, Sacharow S, Rajabi F, Costin C, Yamamoto S, Kanca O, Bellen HJ, Rosenfeld JA, Palmer CGS, Nelson SF, Wangler MF, Martinez-Agosto JA. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Jul 19;26(11):101218. [Epub ahead of print] PubMed PMID: 39036895
  • Ayash J, Woods RL, Akula JD, Rajabi F, Alwattar BK, Altschwager P, Fulton AB. Characteristics of Eyes With CRB1-Associated EOSRD/LCA: Age-Related Changes. Am J Ophthalmol. 2024 Jul;263:168-178. PubMed PMID: 38461945
  • 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. PubMed PMID: 33675208
  • 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 Mar;29(3):411-421. PubMed PMID: 33168985
  • Chiou CA, Rajabi F, Fulton AB, Acsadi G, Waitzman DM, Gaier ED. Membrane Frizzled-Related Protein-Related Disease Mimicking Idiopathic Intracranial Hypertension. J Neuroophthalmol. 2024 Mar 1;44(1):e26-e28. PubMed PMID: 36255095
  • 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 Jun;31(6):712-715. PubMed PMID: 36690831
  • Yavuz Saricay L, Baldwin G, Moulton EA, Gonzalez E, Rajabi F, Hunter DG, Fulton AB. Refractive errors in patients with Bardet Biedl syndrome. Ophthalmic Genet. 2024 Oct;45(5):435-440. PubMed PMID: 38953718
  • Rajabi F, Levy HL. Hyperphenylalaninemia and the genomic revolution. Mol Genet Metab. 2015 Mar;114(3):380-1. PubMed PMID: 25549965
  • Rosenblatt DS, Watkins D, Rajabi F, Levy HL. Confounding factors in identification of disease-resilient individuals. Nat Biotechnol. 2016 Nov 8;34(11):1103-1104. PubMed PMID: 27824855
  • 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. PubMed PMID: 28887792
  • 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 Dec;176(12):2554-2560. PubMed PMID: 30475435
  • 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 Jul;198:313-316. PubMed PMID: 29681447
  • Rajabi F. Updates in Newborn Screening. Pediatr Ann. 2018 May 1;47(5):e187-e190. PubMed PMID: 29750285
  • Rajabi F, Rohr F, Wessel A, Martell L, Dobrowolski SF, Guldberg P, Güttler F, Levy HL. Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study. Mol Genet Metab. 2019 Dec;128(4):415-421. PubMed PMID: 31623983
  • 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. PubMed PMID: 32169557

Practice Locations

Children's Hospital Colorado Anschutz Medical Campus
13123 East 16th Ave
Aurora, CO 80045
720-777-1234

Hospital Affiliation
  • Children's Hospital Colorado

Specialty Information

Specialties
  • Clinical Genetics and Genomics (MD)

School of Medicine

CU Anschutz
Fitzsimons Building

13001 East 17th Place

Aurora, CO 80045

303.724.5375

School
General
Students