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Eric T. Rush, MD, FAAP, FACMG

TitleMedical Director, Office of Faculty Affairs and Development
InstitutionChildren's Mercy Kansas City
DepartmentPediatrics
Address2401 Gillham Rd
Kansas City MO 64108
ORCID ORCID Icon0000-0002-8147-7315 Additional info
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    Other Positions
    TitleAssociate Professor of Pediatrics
    InstitutionUniversity of Missouri-Kansas City
    DepartmentPediatrics

    TitleClinical Associate Professor of Internal Medicine
    InstitutionUniversity of Kansas Medical Center
    DepartmentInternal Medicine


    Collapse Biography 
    Collapse education and training
    University of Kansas School of Medicine, Kansas City, KSMD2005
    University of Nebraska Medical Center, Omaha, NEFellowship2012Clinical Genetics
    University of Nebraska Medical Center, Omaha, NEResidency 2009Internal Medicine and Pediatrics

    Collapse Research 
    Collapse research overview
    Dr. Rush's research concerns the molecular delineation and best practices in the management of rare bone disorders, particularly brittle bone disorders such as hypophosphatasia, osteogenesis imperfecta, and X-linked hypophosphatemia.

    Collapse Bibliography 
    Collapse selected publications
    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.
    List All   |   Timeline
    1. Cohen ASA, Farrow EG, Abdelmoity AT, Alaimo JT, Amudhavalli SM, Anderson JT, Bansal L, Bartik L, Baybayan P, Belden B, Berrios CD, Biswell RL, Buczkowicz P, Buske O, Chakraborty S, Cheung WA, Coffman KA, Cooper AM, Cross LA, Curran T, Dang TTT, Elfrink MM, Engleman KL, Fecske ED, Fieser C, Fitzgerald K, Fleming EA, Gadea RN, Gannon JL, Gelineau-Morel RN, Gibson M, Goldstein J, Grundberg E, Halpin K, Harvey BS, Heese BA, Hein W, Herd SM, Hughes SS, Ilyas M, Jacobson J, Jenkins JL, Jiang S, Johnston JJ, Keeler K, Korlach J, Kussmann J, Lambert C, Lawson C, Le Pichon JB, Leeder JS, Little VC, Louiselle DA, Lypka M, McDonald BD, Miller N, Modrcin A, Nair A, Neal SH, Oermann CM, Pacicca DM, Pawar K, Posey NL, Price N, Puckett LMB, Quezada JF, Raje N, Rowell WJ, Rush ET, Sampath V, Saunders CJ, Schwager C, Schwend RM, Shaffer E, Smail C, Soden S, Strenk ME, Sullivan BR, Sweeney BR, Tam-Williams JB, Walter AM, Welsh H, Wenger AM, Willig LK, Yan Y, Younger ST, Zhou D, Zion TN, Thiffault I, Pastinen T. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes. Genet Med. 2022 Mar 15. PMID: 35305867.
      View in: PubMed
    2. Rush ET, Johnson B, Aradhya S, Beltran D, Bristow SL, Eisenbeis S, Guerra NE, Krolczyk S, Miller N, Morales A, Ramesan P, Sarafrazi S, Truty R, Dahir K. Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program. J Bone Miner Res. 2022 02; 37(2):202-214. PMID: 34633109.
      View in: PubMed
    3. Lansdon LA, Chen D, Rush ET, Engleman K, Zhang L, Saunders CJ, Oroszi G. A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome. Cold Spring Harb Mol Case Stud. 2021 10; 7(5). PMID: 34362826.
      View in: PubMed
    4. Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P, Rush E, Pitt GS, Au PYB, Shashi V. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 Oct; 23(10):2016. PMID: 34522029.
      View in: PubMed
    5. Eleftheriadou V, Atkar R, Batchelor J, McDonald B, Novakovic L, Patel JV, Ravenscroft J, Rush E, Shah D, Shah R, Shaw L, Thompson AR, Hashme M, Exton LS, Mohd Mustapa MF, Manounah L. British Association of Dermatologists guidelines for the management of people with vitiligo 2021. Br J Dermatol. 2022 01; 186(1):18-29. PMID: 34160061.
      View in: PubMed
    6. Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P, Rush E, Pitt GS, Au PYB, Shashi V. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021 10; 23(10):1922-1932. PMID: 34163037.
      View in: PubMed
    7. Kishnani PS, Del Angel G, Zhou S, Rush ET. Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa. Mol Genet Metab. 2021 05; 133(1):113-121. PMID: 33814268.
      View in: PubMed
    8. Cadieux-Dion M, Hughes S, Engleman K, Rush ET, Saunders C. Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease. Am J Med Genet A. 2021 05; 185(5):1515-1518. PMID: 33559401.
      View in: PubMed
    9. Bosakova M, Abraham SP, Nita A, Hruba E, Buchtova M, Taylor SP, Duran I, Martin J, Svozilova K, Barta T, Varecha M, Balek L, Kohoutek J, Radaszkiewicz T, Pusapati GV, Bryja V, Rush ET, Thiffault I, Nickerson DA, Bamshad MJ, Rohatgi R, Cohn DH, Krakow D, Krejci P. Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling. EMBO Mol Med. 2020 11 06; 12(11):e11739. PMID: 33200460.
      View in: PubMed
    10. Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. Eur J Hum Genet. 2020 10; 28(10):1422-1431. PMID: 32483341.
      View in: PubMed
    11. Simmons JH, Rush ET, Petryk A, Zhou S, Martos-Moreno GÁ. Dual X-ray absorptiometry has limited utility in detecting bone pathology in children with hypophosphatasia: A pooled post hoc analysis of asfotase alfa clinical trial data. Bone. 2020 08; 137:115413. PMID: 32417537.
      View in: PubMed
    12. Chilton I, Okur V, Vitiello G, Selicorni A, Mariani M, Goldenberg A, Husson T, Campion D, Lichtenbelt KD, van Gassen K, Steinraths M, Rice J, Roeder ER, Littlejohn RO, Srour M, Sebire G, Accogli A, Héron D, Heide S, Nava C, Depienne C, Larson A, Niyazov D, Azage M, Hoganson G, Burton J, Rush ET, Jenkins JL, Saunders CJ, Thiffault I, Alaimo JT, Fleischer J, Groepper D, Gripp KW, Chung WK. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Am J Med Genet A. 2020 05; 182(5):962-973. PMID: 32031333.
      View in: PubMed
    13. Lewiecki EM, Bilezikian JP, Kagan R, Krakow D, McClung MR, Miller PD, Rush ET, Shuhart CR, Watts NB, Yu EW. Proceedings of the 2019 Santa Fe Bone Symposium: New Concepts in the Care of Osteoporosis and Rare Bone Diseases. J Clin Densitom. 2020 Jan - Mar; 23(1):1-20. PMID: 31685420.
      View in: PubMed
    14. Rush ET, Moseley S, Petryk A. Burden of disease in pediatric patients with hypophosphatasia: results from the HPP Impact Patient Survey and the HPP Outcomes Study Telephone interview. Orphanet J Rare Dis. 2019 08 16; 14(1):201. PMID: 31419999.
      View in: PubMed
    15. Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N. Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. Am J Hum Genet. 2019 09 05; 105(3):631-639. PMID: 31353024.
      View in: PubMed
    16. Kruger KM, Caudill A, Rodriguez Celin M, Nagamani SCS, Shapiro JR, Steiner RD, Bober MB, Hart T, Cuthbertson D, Krischer J, Byers PH, Durigova M, Glorieux FH, Rauch F, Sutton VR, Lee B, Rush ET, Smith PA, Harris GF. Mobility in osteogenesis imperfecta: a multicenter North American study. Genet Med. 2019 10; 21(10):2311-2318. PMID: 30918359.
      View in: PubMed
    17. Kaur T, Rush ET, Bhattacharya RK. PHOSPHATURIC MESENCHYMAL HEEL TUMOR PRESENTING WITH TUMOR-INDUCED OSTEOMALACIA. AACE Clin Case Rep. 2019 Mar-Apr; 5(2):e138-e141. PMID: 31967019.
      View in: PubMed
    18. Tam A, Chen S, Schauer E, Grafe I, Bandi V, Shapiro JR, Steiner RD, Smith PA, Bober MB, Hart T, Cuthbertson D, Krischer J, Mullins M, Byers PH, Sandhaus RA, Durigova M, Glorieux FH, Rauch F, Reid Sutton V, Lee B, Rush ET, Nagamani SCS. A multicenter study to evaluate pulmonary function in osteogenesis imperfecta. Clin Genet. 2018 12; 94(6):502-511. PMID: 30152014.
      View in: PubMed
    19. Rush ET. Childhood hypophosphatasia: to treat or not to treat. Orphanet J Rare Dis. 2018 07 16; 13(1):116. PMID: 30012160.
      View in: PubMed
    20. Azzam KA, Rush ET, Burke BR, Nabower AM, Esposito PW. Mid-term Results of Femoral and Tibial Osteotomies and Fassier-Duval Nailing in Children With Osteogenesis Imperfecta. J Pediatr Orthop. 2018 Jul; 38(6):331-336. PMID: 27379783.
      View in: PubMed
    21. Sofronescu AG, Ross M, Rush E, Goldner W. Spurious testosterone laboratory results in a patient taking synthetic alkaline phosphatase (asfotase alfa). Clin Biochem. 2018 Aug; 58:118-121. PMID: 29709501.
      View in: PubMed
    22. Kreikemeier RM, Gosnell H, Halbur LM, Rush ET. A retrospective review of initial bisphosphonate infusion in an inpatient vs. outpatient setting for bisphosphonate naïve patients. J Pediatr Endocrinol Metab. 2017 Oct 26; 30(10):1105-1110. PMID: 28917085.
      View in: PubMed
    23. Wu CC, Econs MJ, DiMeglio LA, Insogna KL, Levine MA, Orchard PJ, Miller WP, Petryk A, Rush ET, Shoback DM, Ward LM, Polgreen LE. Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group. J Clin Endocrinol Metab. 2017 09 01; 102(9):3111-3123. PMID: 28655174.
      View in: PubMed
    24. Rush ET, Baker CV, Rizzo WB. Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype. Am J Med Genet A. 2017 Sep; 173(9):2428-2434. PMID: 28816422.
      View in: PubMed
    25. Kishnani PS, Rush ET, Arundel P, Bishop N, Dahir K, Fraser W, Harmatz P, Linglart A, Munns CF, Nunes ME, Saal HM, Seefried L, Ozono K. Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Mol Genet Metab. 2017 09; 122(1-2):4-17. PMID: 28888853.
      View in: PubMed
    26. Fadus MC, Rush ET, Lettieri CK. Syndrome of progressive bone marrow failure and pancreatic insufficiency remains cryptic despite whole exome sequencing: variant of Shwachman-Diamond syndrome or new condition? Clin Case Rep. 2017 06; 5(6):748-752. PMID: 28588803.
      View in: PubMed
    27. Rush E, Oliver M, Plank LD, Taylor S, Iusitini L, Jalili-Moghaddam S, Savila F, Paterson J, Tautolo E. Cohort profile: Pacific Islands Families (PIF) growth study, Auckland, New Zealand. BMJ Open. 2016 11 02; 6(11):e013407. PMID: 27807091.
      View in: PubMed
    28. Rush ET, Li L, Goodwin JL, Kreikemeier RM, Craft M, Danford DA, Kutty S. Echocardiographic phenotype in osteogenesis imperfecta varies with disease severity. Heart. 2017 03; 103(6):443-448. PMID: 27647171.
      View in: PubMed
    29. Bhatti D, Balasetti V, Malgireddy K, Rush ET, Torres-Russotto D. Tourette syndrome, obsessive compulsive behavior, and dysmorphic features in a patient with deletions at chromosome 18q22.1 and chromosome 13q12.3-q13.1. Parkinsonism Relat Disord. 2016 11; 32:133-134. PMID: 27637283.
      View in: PubMed
    30. Nampoothiri S, Fernández-Rebollo E, Yesodharan D, Gardella TJ, Rush ET, Langman CB, Jüppner H. Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia. J Clin Endocrinol Metab. 2016 11; 101(11):4283-4289. PMID: 27410178.
      View in: PubMed
    31. Rush ET. Atypical presentation of mucopolysaccharidosis type IVA. Mol Genet Metab Rep. 2016 Sep; 8:8-12. PMID: 27331011.
      View in: PubMed
    32. Rush ET, Goodwin JL, Braverman NE, Rizzo WB. Reply: Low bone mineral density is a common feature of Zellweger spectrum disorders. Mol Genet Metab Rep. 2016 Jun; 7:94-5. PMID: 27331009.
      View in: PubMed
    33. Newton LE, Abdessalam SF, Raynor SC, Lyden ER, Rush ET, Needelman H, Cusick RA. Neurodevelopmental outcomes of tracheoesophageal fistulas. J Pediatr Surg. 2016 May; 51(5):743-7. PMID: 26949142.
      View in: PubMed
    34. Braverman NE, Raymond GV, Rizzo WB, Moser AB, Wilkinson ME, Stone EM, Steinberg SJ, Wangler MF, Rush ET, Hacia JG, Bose M. Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016 Mar; 117(3):313-21. PMID: 26750748.
      View in: PubMed
    35. Rush ET, Goodwin JL, Braverman NE, Rizzo WB. Low bone mineral density is a common feature of Zellweger spectrum disorders. Mol Genet Metab. 2016 Jan; 117(1):33-7. PMID: 26643206.
      View in: PubMed
    36. Rush ET, Schaefer GB, Sanger WG, Coccia PF. Aplastic Anemia in Two Patients with Sex Chromosome Aneuploidies. Cytogenet Genome Res. 2015; 147(1):31-4. PMID: 26571231.
      View in: PubMed
    37. Mangrum C, Rush E, Shivaswamy V. Genetically Targeted Dipeptidyl Peptidase-4 Inhibitor Use in a Patient with a Novel Mutation of MODY type 4. Clin Med Insights Endocrinol Diabetes. 2015; 8:83-6. PMID: 26543388.
      View in: PubMed
    38. Rush ET, Hartmann JE, Skrabal JC, Rizzo WB. Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy. SAGE Open Med Case Rep. 2014; 2:2050313X14546348. PMID: 27489649.
      View in: PubMed
    39. Rush ET, Caldwell KS, Kreikemeier RM, Lutz RE, Esposito PW. Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing loss. J Pediatr Genet. 2014 Mar; 3(1):29-34. PMID: 27625864.
      View in: PubMed
    40. Acquazzino MA, Rush ET, Quiros Tejeira RE, Beck JC. Liver transplant for congenital factor VII deficiency. Pediatr Blood Cancer. 2014 Oct; 61(10):1886-7. PMID: 24585521.
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    41. Rush ET, Stevens JM, Sanger WG, Olney AH. Report of a patient with developmental delay, hearing loss, growth retardation, and cleft lip and palate and a deletion of 7q34-36.1: review of distal 7q deletions. Am J Med Genet A. 2013 Jul; 161A(7):1726-32. PMID: 23696251.
      View in: PubMed
    42. Rush ET, Adam MP, Clark RD, Curry C, Hartmann JE, Dobyns WB, Olney AH. Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. Am J Med Genet A. 2013 Feb; 161A(2):320-6. PMID: 23292994.
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    43. Mohebbi MR, Rush ET, Rizzo WB, Banagale RC. Zellweger syndrome and associated brain malformations: report of a novel Peroxin1 (PEX1) mutation in a Native American infant. J Child Neurol. 2012 Dec; 27(12):1589-92. PMID: 22378672.
      View in: PubMed
    44. Rush ET, DeHaai K, Kreikemeier RM, Lutz RE. Evaluation and comparison of safety, convenience and cost of administering intravenous pamidronate infusions to children in the home and ambulatory care settings. J Pediatr Endocrinol Metab. 2012; 25(5-6):493-7. PMID: 22876544.
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    45. Rush ET, Schaefer GB. Identification of an X-linked deletion syndrome through comparative genomic hybridization microarray. Semin Pediatr Neurol. 2010 Mar; 17(1):51-3. PMID: 20434696.
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    46. Rush E, Crook N, Simmons D. Point-of-care testing as a tool for screening for diabetes and pre-diabetes. Diabet Med. 2008 Sep; 25(9):1070-5. PMID: 19183312.
      View in: PubMed
    47. Rush, ET. Medscape.
    48. Rush, ET. Medscape.
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