Michael Muriello, MD

Publications

• 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. 2024 Oct 15:e63903 PMID: 39404449 10/15/2024

• 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

• 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 11/09/2023

• 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

• 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

• 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

• 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

• 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 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 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 02/26/2022

• 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

• 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 02/01/2020