Medical College of Wisconsin
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Michael Muriello MD

Assistant Professor

Institution: Medical College of Wisconsin
Department: Pediatrics
Division: Genetics


Publications (13)

  • TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. (Hijazi H, Reis LM, Pehlivan D, Bernstein JA, Muriello M, Syverson E, Bonner D, Estiar MA, Gan-Or Z, Rouleau GA, Lyulcheva E, Greenhalgh L, Tessarech M, Colin E, Guichet A, Bonneau D, van Jaarsveld RH, Lachmeijer AMA, Ruaud L, Levy J, Tabet AC, Ploski R, Rydzanicz M, Kępczyński Ł, Połatyńska K, Li Y, Fatih JM, Marafi D, Rosenfeld JA, Coban-Akdemir Z, Bi W, Gibbs RA, Hobson GM, Hunter JV, Carvalho CMB, Posey JE, Semina EV, Lupski JR) Am J Hum Genet 2022 Nov 07 PMID: 36368327 11/12/2022    
  • Agreement between parent-proxy and child self-report in pediatric hypermobile Ehlers-Danlos syndrome. (Wang Y, Clemens JL, Muriello M, Mu W, Smith CH, Tran PT, Rowe PC, Francomano C, Kline AD, Bodurtha J) J Child Health Care 2022 Sep 21:13674935221110081 PMID: 36128922 SCOPUS ID: 2-s2.0-85139055293 09/22/2022    
  • Rapid Exome and Genome Sequencing in the Intensive Care Unit. (Muriello M, Basel D) Crit Care Clin 2022 Apr;38(2):173-184 PMID: 35369941 SCOPUS ID: 2-s2.0-85127316826 04/05/2022    
  • Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit. (Muriello M) Clin Perinatol 2022 Mar;49(1):167-179 PMID: 35209999 SCOPUS ID: 2-s2.0-85123361015 02/26/2022       2 Citations
  • Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy. (Del Caño-Ochoa F, Ng BG, Abedalthagafi M, Almannai M, Cohn RD, Costain G, Elpeleg O, Houlden H, Karimiani EG, Liu P, Manzini MC, Maroofian R, Muriello M, Al-Otaibi A, Patel H, Shimon E, Sutton VR, Toosi MB, Wolfe LA, Rosenfeld JA, Freeze HH, Ramón-Maiques S) Genet Med 2020 Oct;22(10):1598-1605 PMID: 32461667 PMCID: PMC7521996 SCOPUS ID: 2-s2.0-85085495821 05/29/2020       13 Citations
  • Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. (Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B) Nat Commun 2020 Jan 30;11(1):595 PMID: 32001716 PMCID: PMC6992768 SCOPUS ID: 2-s2.0-85078711726 02/01/2020       20 Citations
  • Factors affecting quality of life in children and adolescents with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders. (Mu W, Muriello M, Clemens JL, Wang Y, Smith CH, Tran PT, Rowe PC, Francomano CA, Kline AD, Bodurtha J) Am J Med Genet A 2019 Apr;179(4):561-569 PMID: 30703284 PMCID: PMC7029373 SCOPUS ID: 2-s2.0-85060939629 02/01/2019       24 Citations
  • Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2. (Muriello M, Kim AY, Sondergaard Schatz K, Beck N, Gunay-Aygun M, Hoover-Fong JE) Am J Med Genet A 2019 03;179(3):410-416 PMID: 30672094 PMCID: PMC7038632 SCOPUS ID: 2-s2.0-85060528235 01/24/2019       5 Citations
  • Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes. (Muriello M, Clemens JL, Mu W, Tran PT, Rowe PC, Smith CH, Francomano C, Bodurtha J, Kline AD) Am J Med Genet A 2018 Sep;176(9):1858-1864 PMID: 30178919 PMCID: PMC6528463 SCOPUS ID: 2-s2.0-85052914327 09/05/2018       10 Citations
  • Confirmation that MAT1A p.Ala259Val mutation causes autosomal dominant hypermethioninemia. (Muriello MJ, Viall S, Bottiglieri T, Cusmano-Ozog K, Ferreira CR) Mol Genet Metab Rep 2017 Dec;13:9-12 PMID: 28748147 PMCID: PMC5512230 SCOPUS ID: 2-s2.0-85024124889 07/28/2017       6 Citations
  • McArdle disease: a "pediatric" disorder presenting in an adult with acute kidney injury. (Zhao X, Li A, Soni M, Muriello MJ, Jones CH, Whittier WL) CEN Case Rep 2017 Nov;6(2):156-160 PMID: 28660497 PMCID: PMC5694403 07/01/2017    
  • Enteroviral Meningoencephalitis Complicated by Central Diabetes Insipidus in a Neonate: A Case Report and Review of the Literature. (Jones G, Muriello M, Patel A, Logan L) J Pediatric Infect Dis Soc 2015 Jun;4(2):155-8 PMID: 26407416 SCOPUS ID: 2-s2.0-85006186505 09/26/2015       5 Citations
  • Treatment of inpatient hyperglycemia beginning in the emergency department: a randomized trial using insulins aspart and detemir compared with usual care. (Bernard JB, Munoz C, Harper J, Muriello M, Rico E, Baldwin D) J Hosp Med 2011 May;6(5):279-84 PMID: 21661100 SCOPUS ID: 2-s2.0-79958699948 06/11/2011       23 Citations
  • Last update: 11/24/2022