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Connection

Eric Rush to Humans

This is a "connection" page, showing publications Eric Rush has written about Humans.

 
Connection Strength
  
 
 
1.450
  
  1. 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.
    View in: PubMed
    Score: 0.094
  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.
    View in: PubMed
    Score: 0.081
  3. 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.
    View in: PubMed
    Score: 0.078
  4. 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.
    View in: PubMed
    Score: 0.070
  5. Rush ET. Childhood hypophosphatasia: to treat or not to treat. Orphanet J Rare Dis. 2018 07 16; 13(1):116.
    View in: PubMed
    Score: 0.065
  6. 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.
    View in: PubMed
    Score: 0.062
  7. 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.
    View in: PubMed
    Score: 0.061
  8. 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.
    View in: PubMed
    Score: 0.057
  9. 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.
    View in: PubMed
    Score: 0.054
  10. 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.
    View in: PubMed
    Score: 0.054
  11. 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.
    View in: PubMed
    Score: 0.045
  12. 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.
    View in: PubMed
    Score: 0.044
  13. 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.
    View in: PubMed
    Score: 0.041
  14. 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.
    View in: PubMed
    Score: 0.040
  15. 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.
    View in: PubMed
    Score: 0.036
  16. 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.
    View in: PubMed
    Score: 0.024
  17. 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.
    View in: PubMed
    Score: 0.024
  18. 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.
    View in: PubMed
    Score: 0.023
  19. 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.
    View in: PubMed
    Score: 0.023
  20. 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.
    View in: PubMed
    Score: 0.023
  21. 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.
    View in: PubMed
    Score: 0.023
  22. 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.
    View in: PubMed
    Score: 0.023
  23. 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.
    View in: PubMed
    Score: 0.022
  24. 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.
    View in: PubMed
    Score: 0.022
  25. 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.
    View in: PubMed
    Score: 0.021
  26. 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).
    View in: PubMed
    Score: 0.020
  27. 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.
    View in: PubMed
    Score: 0.020
  28. 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.
    View in: PubMed
    Score: 0.019
  29. 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.
    View in: PubMed
    Score: 0.019
  30. 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.
    View in: PubMed
    Score: 0.018
  31. 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.
    View in: PubMed
    Score: 0.018
  32. 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.
    View in: PubMed
    Score: 0.018
  33. 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.
    View in: PubMed
    Score: 0.018
  34. 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.
    View in: PubMed
    Score: 0.017
  35. 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.
    View in: PubMed
    Score: 0.017
  36. 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.
    View in: PubMed
    Score: 0.016
  37. 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.
    View in: PubMed
    Score: 0.016
  38. 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.
    View in: PubMed
    Score: 0.016
  39. 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.
    View in: PubMed
    Score: 0.015
  40. 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.
    View in: PubMed
    Score: 0.015
  41. 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.
    View in: PubMed
    Score: 0.014
  42. 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.
    View in: PubMed
    Score: 0.014
  43. 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.
    View in: PubMed
    Score: 0.014
  44. 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.
    View in: PubMed
    Score: 0.014
  45. 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.
    View in: PubMed
    Score: 0.012
  46. 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.
    View in: PubMed
    Score: 0.010
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.