Specialties
Board Certification
|
American Board of Medical Genetics and Genomics (Medical Biochemical Genetics) (ABMGG)
American Board of Pediatrics (Pediatrics)
American Board of Medical Genetics and Genomics (Clinical Genetics and Genomics)
|
Board Certification and Academic Information
| Academic Departments |
Pediatrics
-Assistant Professor (Clinical) |
|---|---|
| Board Certification |
American Board of Medical Genetics and Genomics (Medical Biochemical Genetics) (ABMGG)
American Board of Pediatrics (Pediatrics)
American Board of Medical Genetics and Genomics (Clinical Genetics and Genomics)
|
Education history
| Undergraduate | Major: Physiology and Developmental Biology; Minor: Molecular Biology - Brigham Young University | B.S. |
|---|---|---|
| Professional Medical | MD: Medical Student Scholars Program in Pediatrics; PhD: Molecular and Developmental Biology - University of Cincinnati College of Medicine | M.D., Ph.D. |
| Residency | Pediatrics and Human Genetics - Cincinnati Children's Hospital Medical Center | Resident |
| Fellowship | Medical Biochemical Genetics - University of Utah Spencer Fox Eccles School of Medicine | Fellow |
| Fellowship | Pediatric Genomics and Gene Therapy - University of Utah Spencer Fox Eccles School of Medicine | Fellow |
Selected Publications
Journal Article
- Coody TK, De Biase I, Porter JM, Pasquali M, Shayota BJ (2025). Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism. Mol Genet Metab Rep, 45, 101258.
- Dafsari HS, Deneubourg C, Singh K, Maroofian R, Suprenant Z, Kho AL, Ingham NJ, Steel KP, Sheshadri P, Baur F, Hentrich L, Gerisch B, Zamani M, Alves C, Siddiqui A, Dafsari HS, Salari M, Lang AE, Harris M, Abdelaleem A, Sadeghian S, Azizimalamiri R, Galehdari H, Shariati G, Sedaghat A, Zeighami J, Calame D, Marafi D, Duan R, Boehnke A, Clark GD, Rosenfeld JA, Mohila CA, Steel D, Chopra S, Sharma S, Kohlschmidt N, Patzer S, Saffari A, Ebrahimi-Fakhari D, Çavdartepe BE, Chang IJ, Beckman E, Peters R, Fennell AP, Lo B, Averdunk L, Distelmaier F, Baethmann M, Elmslie F, Joost K, Nampoothiri S, Yesodharan D, Mandel H, Kimball A, Kline AD, Mignot C, Keren B, Laugel V, Õunap K, Devadathan K, van Berkestijn FMC, Silwal A, Koene S, Verma S, Karim MY, Boubidi C, Aziz M, ElGhazali G, Mattas L, Miryounesi M, Hashemi-Gorji F, Alavi S, Nouri N, Noruzinia M, Kavousi S, Kamath A, Jayawant S, Saneto R, Haridy NA, Kart PO, Cansu A, Joubert M, Beneteau C, Stuurman KE, Wilke M, Barakat TS, Tajsharghi H, Scardamaglia A, Vallian S, H'z S, Shoeibi A, Boostani R, Hashemi N, Babaei M, Alsaleh NS, Porter J, Attié-Bitach T, Marzin P, Wicher D, Gold JI, Schuler E, Kashgari A, Alanazi RF, Eyaid W, Engelen M, Langeveld M, Stüve B, Li Y, Yigit G, Wollnik B, Monje MHG, Krainc D, Mencacci NE, Bakhtiari S, Kruer M, Argilli E, Sherr E, Jamshidi Y, Karimiani EG, Cheung YWS, Karin I, Zifarelli G, Bauer P, Chung WK, Lupski JR, Kurian MA, Dötsch J, von Kleist-Retzow JC, Klopstock T, Wagner M, Yip C, Roos A, Carsetti R, Dionisi-Vici C, Gautel M, Duchen MR, Antebi A, Houlden H, Fanto M, Jungbluth H (2025). Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism. Ann Neurol, 98(5), 932-950.
- Ames EG, Borja NA, Butterfield RJ, Donald DR, Jarnes JR, Porter JM, Sapp KL, Ueng CS, Wang T, Cohen JL (2025). Institutional readiness for novel therapeutics: A framework for multidisciplinary integration. Mol Genet Metab, 146(1-2), 109214.
- Lander JM, Penon-Portmann M, Sutton VR, Chang I, ACMG Therapeutics Committee5¿documents@acmg.ne (2024). Velmanase alfa approved for treatment of non-central nervous system manifestations of alpha-mannosidosis: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine open, 2, 101832.
- Geddes GC, Parent JJ, Lander J, Jeewa A, Ware SM, Villa C, Chatfield KC, Weaver K (2023). MEK Inhibition Improves Cardiomyopathy in Costello Syndrome. Journal of the American College of Cardiology, 81(14), 1439-1441.
- Lander JM, Supp DM, He H, Martin LJ, Chen X, Weirauch MT, Boyce ST, Kopan (2017). Analysis of chromatin accessibility in human epidermis identifies putative barrier dysfunction-sensing enhancers. PloS one, 12(9), e0184500.
- Wang IC, Snyder J, Zhang Y, Lander J, Nakafuku Y, Lin J, Chen G, Kalin TV, Whitsett JA, Kalinichenko V (2012). Foxm1 mediates cross talk between Kras/mitogen-activated protein kinase and canonical Wnt pathways during development of respiratory epithelium. Molecular and cellular biology, 32(19), 3838-50.