Medical College of Wisconsin
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Michael Muriello MD

Associate Professor

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

Publications (23)

  • Guillouet-Gordon Syndrome With Severe Microtia in an Infant With a Homozygous Variant in MED16. (Seese SE, Reis LM, Genchanok A, Brodner H, Smith JA, Leuthner SR, Muriello M, Semina EV) Am J Med Genet A 2026 Sep 25 PMID: 42798149 09/26/2026    
  • Semantic embedding of variant effect annotations enables rapid and accurate pathogenicity prediction with VUS.Life. (Wu J, Stutzman M, Muriello M, Lincoln J, Basel DG, Gai X) Sci Rep 2026 May 23;16(1) PMID: 42177353 PMCID: PMC13421479 SCOPUS ID: 2-s2.0-105046391067 05/24/2026    
  • Unprocessed U1 snRNAs as a biomarker of INTS11- and BRAT1-related neurodevelopmental disorders. (Valtorta B, Polackova Z, Maroofian R, Herold A, Karagoz I, Zaki MS, Bronisova D, Liao M, Zamani M, Scardamaglia A, Collomb N, Lopez-Jimenez L, Barrero MJ, Schröter J, Syrbe S, Vallanger MH, Houge SD, Alanay Y, Akgun-Dogan O, Vogt J, Muriello M, Hendriks YMC, Afenjar A, Damseh N, Kaiyrzhanov R, Niceta M, Tartaglia M, Kurian MA, Di Donato N, Yoon G, Houlden H, Samarut É, Hanzlikova H) Genome Med 2026 May 12;18(1) PMID: 42116163 PMCID: PMC13335351 SCOPUS ID: 2-s2.0-105043741112 05/12/2026    
  • Second Report of the p.Leu874Pro Missense Variant in  EPHB4 in a Family With Capillary Malformation-Arteriovenous Malformation Syndrome (CM-AVM) Syndrome. (Goeser LE, Lalor L, Chiu YE, Muriello M) Am J Med Genet A 2025 Mar;197(3):e63898 PMID: 39431828 SCOPUS ID: 2-s2.0-85207295481 10/21/2024       1 Citation
  • KIF11 Variants Associated With Novel Renal System Involvement-Two Cases That Expand the Phenotypic Spectrum of Microcephaly With or Without Chorioretinopathy, Lymphedema, or Impaired Intellectual Development. (Gonzalez T, Tyler RC, Schilter KF, McCarrier J, Muriello M, Basel D, Reddi HV) Am J Med Genet A 2025 Feb;197(2):e63903 PMID: 39404449 SCOPUS ID: 2-s2.0-85206338631 10/15/2024       4 Citations
  • Lower extremity inter-joint coupling angles and variability during gait in pediatric hypermobility spectrum disorder. (Jeong HJ, Tarima S, Nguyen A, Qashqai A, Muriello M, Basel D, Slavens BA) J Biomech 2024 Jun;170:112151 PMID: 38851094 SCOPUS ID: 2-s2.0-85195197045 06/09/2024       2 Citations
  • The association of pain with gait spatiotemporal parameters in children with hypermobile Ehlers-Danlos syndrome and hypermobility spectrum disorder. (Jeong HJ, Engel JM, Muriello M, Basel D, Slavens BA) Gait Posture 2024 Mar;109:271-276 PMID: 38368648 SCOPUS ID: 2-s2.0-85185605896 02/18/2024       3 Citations
  • Clinical course and therapeutic trial for a case of congenital secretory diarrhea due to novel GUCY2C variant. (Scott W, Wong IGY, Cramer J, Horton D, Basel D, Teng RJ, Muriello M, Elkadri A) Am J Med Genet A 2024 Apr;194(4):e63489 PMID: 38058249 SCOPUS ID: 2-s2.0-85178961963 12/07/2023       3 Citations
  • Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study. (Wallace EL, Goker-Alpan O, Wilcox WR, Holida M, Bernat J, Longo N, Linhart A, Hughes DA, Hopkin RJ, Tøndel C, Langeveld M, Giraldo P, Pisani A, Germain DP, Mehta A, Deegan PB, Molnar MJ, Ortiz D, Jovanovic A, Muriello M, Barshop BA, Kimonis V, Vujkovac B, Nowak A, Geberhiwot T, Kantola I, Knoll J, Waldek S, Nedd K, Karaa A, Brill-Almon E, Alon S, Chertkoff R, Rocco R, Sakov A, Warnock DG) J Med Genet 2024 May 21;61(6):520-530 PMID: 37940383 PMCID: PMC11137442 SCOPUS ID: 2-s2.0-85176409620 11/09/2023       48 Citations
  • Pain Characteristics and Symptom Management in Children with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder. (Jeong HJ, Engel JM, Wilwert O, Muriello M, Basel D, Slavens BA) Phys Occup Ther Pediatr 2023;43(5):630-643 PMID: 36647261 SCOPUS ID: 2-s2.0-85146444446 01/18/2023       10 Citations
  • 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 Dec 01;109(12):2270-2282 PMID: 36368327 PMCID: PMC9748253 SCOPUS ID: 2-s2.0-85143379858 11/12/2022       15 Citations
  • 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       6 Citations
  • 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       15 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       27 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       51 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       53 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 Mar;179(3):410-416 PMID: 30672094 PMCID: PMC7038632 SCOPUS ID: 2-s2.0-85060528235 01/24/2019       10 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       18 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       11 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       9 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       27 Citations
    • Last update: 09/28/2026