Eric T. Rush, MD, FAAP, FACMG, CCD
Title | Medical Director, Office of Faculty Affairs and Development |
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Institution | Children's Mercy Kansas City |
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Department | Pediatrics |
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Address | 2401 Gillham Rd Kansas City MO 64108
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ORCID
| 0000-0002-8147-7315 |
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vCard | Download vCard |
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Title | Professor of Pediatrics |
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Institution | University of Missouri-Kansas City |
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Department | Pediatrics |
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Title | Clinical Associate Professor of Internal Medicine |
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Institution | University of Kansas Medical Center |
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Department | Internal Medicine |
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Biography University of Kansas School of Medicine, Kansas City, KS | MD | 2005 | | University of Nebraska Medical Center, Omaha, NE | Fellowship | 2012 | Clinical Genetics | University of Nebraska Medical Center, Omaha, NE | Residency | 2009 | Internal Medicine and Pediatrics |
Research 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.
Bibliography
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McNeill HC, Hill JD, Chandler M, Rush ET, Montello M. The Medical Writing Center Model in an Academic Teaching Hospital. J Clin Psychol Med Settings. 2024 May 18. PMID: 38762704.
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Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL, Muller E, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B, Choudhary S, Simonovic M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J. De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features. Am J Hum Genet. 2024 Jun 06; 111(6):1240. PMID: 38749428.
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Dahir KM, Ing SW, Deal C, Messali A, Bates T, Rush ET. Improvement in quality of life after asfotase alfa treatment in adults with pediatric-onset hypophosphatasia: data from 5 patient-reported outcome measures. JBMR Plus. 2024 Aug; 8(8):ziae062. PMID: 39006866.
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Khan AA, Brandi ML, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Michael Lewiecki E. Correction: Hypophosphatasia?diagnosis: current state of the art and proposed diagnostic criteria for children and adults. Osteoporos Int. 2024 May; 35(5):933-934. PMID: 38498158.
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Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL, Muller E, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B, Choudhary S, Simonovic M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Yang J, Juusola J. De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features. Am J Hum Genet. 2024 04 04; 111(4):778-790. PMID: 38531365.
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Dahir KM, Rush ET, Diaz-Mendoza S, Kishnani PS. A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United States. J Endocrinol Invest. 2024 Jun; 47(6):1487-1497. PMID: 38236379.
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Khan AA, Brandi ML, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Lewiecki EM. Hypophosphatasia?diagnosis: current state of the art and proposed diagnostic criteria for children and adults. Osteoporos Int. 2024 Mar; 35(3):431-438. PMID: 37982857.
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Rush E, Brandi ML, Khan A, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Lewiecki EM, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Starling SR, Ward L, Yao L, Brignardello-Petersen R, Simmons JH. Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group. Osteoporos Int. 2024 Jan; 35(1):1-10. PMID: 37982855.
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Brandi ML, Khan AA, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Lewiecki EM, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Roux C. The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance. Osteoporos Int. 2024 Mar; 35(3):439-449. PMID: 37982856.
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Farman MR, Rehder C, Malli T, Rockman-Greenberg C, Dahir K, Martos-Moreno G?, Linglart A, Ozono K, Seefried L, Del Angel G, Webersinke G, Barbazza F, John LK, Delana Mudiyanselage SMA, H?gler F, Nading EB, Huggins E, Rush ET, El-Gazzar A, Kishnani PS, H?gler W. The Global ALPL gene variant classification project: Dedicated to deciphering variants. Bone. 2024 01; 178:116947. PMID: 37898381.
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Liu W, Lee B, Nagamani SCS, Nicol L, Rauch F, Rush ET, Sutton VR, Orwoll E. Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta. J Clin Endocrinol Metab. 2023 06 16; 108(7):1787-1796. PMID: 36658750.
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Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, K?ry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. Am J Med Genet A. 2023 07; 191(7):1900-1910. PMID: 37183572.
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Zion TN, Berrios CD, Cohen ASA, Bartik L, Cross LA, Engleman KL, Fleming EA, Gadea RN, Hughes SS, Jenkins JL, Kussmann J, Lawson C, Schwager C, Strenk ME, Welsh H, Rush ET, Amudhavalli SM, Sullivan BR, Zhou D, Gannon JL, Heese BA, Moore R, Boillat E, Biswell RL, Louiselle DA, Puckett LMB, Beyer S, Neal SH, Sierant V, McBeth M, Belden B, Walter AM, Gibson M, Cheung WA, Johnston JJ, Thiffault I, Farrow EG, Grundberg E, Pastinen T. Insurance denials and diagnostic rates in a pediatric genomic research cohort. Genet Med. 2023 05; 25(5):100020. PMID: 36718845.
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Black WR, Jones JT, Rush ET, Malloy Walton L, Harding A. Development of a Multidisciplinary Clinic for Patients with Ehlers Danlos Syndromes: Considerations and Strategies. J Multidiscip Healthc. 2023; 16:191-195. PMID: 36714240.
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Jones JT, Black WR, Moser CN, Rush ET, Malloy Walton L. Gender dysphoria in adolescents with Ehlers-Danlos syndrome. SAGE Open Med. 2022; 10:20503121221146074. PMID: 36600979.
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Del Viso F, Zhou D, Thiffault I, Lawson C, Cross L, Jenkins J, Rush E, Saunders C. Recurrent FOXP4 nonsense variant in two unrelated patients: Association with neurodevelopmental disease and congenital diaphragmatic hernia. Am J Med Genet A. 2023 01; 191(1):259-264. PMID: 36301021.
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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 06; 24(6):1336-1348. PMID: 35305867.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altm?ller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Co?slier 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.
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Simmons JH, Rush ET, Petryk A, Zhou S, Martos-Moreno G?. 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.
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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, H?ron 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.
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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.
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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.
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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.
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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.
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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.
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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.
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Rush ET. Childhood hypophosphatasia: to treat or not to treat. Orphanet J Rare Dis. 2018 07 16; 13(1):116. PMID: 30012160.
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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.
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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.
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Kreikemeier RM, Gosnell H, Halbur LM, Rush ET. A retrospective review of initial bisphosphonate infusion in an inpatient vs. outpatient setting for bisphosphonate na?ve patients. J Pediatr Endocrinol Metab. 2017 Oct 26; 30(10):1105-1110. PMID: 28917085.
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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.
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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.
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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.
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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.
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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.
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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.
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Nampoothiri S, Fern?ndez-Rebollo E, Yesodharan D, Gardella TJ, Rush ET, Langman CB, J?ppner 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.
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Rush ET. Atypical presentation of mucopolysaccharidosis type IVA. Mol Genet Metab Rep. 2016 Sep; 8:8-12. PMID: 27331011.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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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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.
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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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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.
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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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Rush E, Reed PW, McLennan S, Coppinger T, Simmons D, Graham D. Tracking of body mass indices over 2 years in Maori and European children. Eur J Clin Nutr. 2012 Feb; 66(2):143-9. PMID: 21772316.
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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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Rush, ET. Medscape.
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Rush, ET. Medscape.
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