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Marilyn Jones

TitleProfessor Of Clinical
InstitutionUniversity of California San Diego
DepartmentPediatrics
Address9300 Campus Point Drive #7768
La Jolla CA 92037
Phone858-966-5840
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM. Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. Am J Hum Genet. 2018 Oct 04; 103(4):602-611. PMID: 30269814.
      View in: PubMed
    2. Sweeney NM, Nahas SA, Chowdhury S, Del Campo M, Jones MC, Dimmock DP, Kingsmore SF, Investigators R. The case for early use of rapid whole genome sequencing in management of critically ill infants: Late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease and recurrent infections. Cold Spring Harb Mol Case Stud. 2018 Mar 16. PMID: 29549119.
      View in: PubMed
    3. Weiss K, Wigby K, Fannemel M, Henderson LB, Beck N, Ghali N, Study DDD, Anderlid BM, Lundin J, Hamosh A, Jones MC, Ghedia S, Muenke M, Kruszka P. Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay. Eur J Hum Genet. 2017 08; 25(8):946-951. PMID: 28513610.
      View in: PubMed
    4. Marc-Aurele KL, Hull AD, Jones MC, Pretorius DH. A fetal diagnostic center's referral rate for perinatal palliative care. Ann Palliat Med. 2017 May 04. PMID: 28595435.
      View in: PubMed
    5. Ho YK, Turley M, Marc-Aurele KL, Jones MC, Housman E, Engelkemier D, Romine LE, Khanna PC, Pretorius DH. Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern. J Ultrasound Med. 2017 Aug; 36(8):1657-1668. PMID: 28417514.
      View in: PubMed
    6. Jones MC, Topol SE, Rueda M, Oliveira G, Phillips T, Spencer EG, Torkamani A. Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder. Genet Med. 2017 Oct; 19(10):1179-1183. PMID: 28383544.
      View in: PubMed
    7. Wigby K, Twigg SRF, Broderick R, Davenport KP, Wilkie AOM, Bickler SW, Jones MC. Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn. Am J Med Genet A. 2017 Jun; 173(6):1586-1592. PMID: 28386950.
      View in: PubMed
    8. Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016 06 02; 98(6):1256-1265. PMID: 27236920.
      View in: PubMed
    9. Rosti RO, Dikoglu E, Zaki MS, Abdel-Salam G, Makhseed N, Sese JC, Musaev D, Rosti B, Harbert MJ, Jones MC, Vaux KK, Gleeson JG. Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene. Am J Med Genet A. 2016 Apr; 170A(4):992-8. PMID: 27001912; PMCID: PMC5011457.
    10. Overcash RT, Gibu CK, Jones MC, Ramos GA, Andreasen TS. Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis. Am J Med Genet A. 2015 Oct; 167A(10):2440-3. PMID: 26096958.
      View in: PubMed
    11. Boland BS, Widjaja CE, Banno A, Zhang B, Kim SH, Stoven S, Peterson MR, Jones MC, Su HI, Crowe SE, Bui JD, Ho SB, Okugawa Y, Goel A, Marietta EV, Khosroheidari M, Jepsen K, Aramburu J, López-Rodríguez C, Sandborn WJ, Murray JA, Harismendy O, Chang JT. Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency. J Immunol. 2015 Mar 15; 194(6):2551-60. PMID: 25667416; PMCID: PMC4355235.
    12. Lu J, Vaidya N, Meng H, Dai Q, Romine LE, Jones MC, Pretorius DH. Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. J Ultrasound Med. 2014 Jan; 33(1):167-76. PMID: 24371113.
      View in: PubMed
    13. Tarquinio DC, Jones MC, Jones KL, Bird LM. Growth charts for 22q11 deletion syndrome. Am J Med Genet A. 2012 Nov; 158A(11):2672-81. PMID: 22887711.
      View in: PubMed
    14. Rice KJ, Ballas J, Lai E, Hartney C, Jones MC, Pretorius DH. Diagnosis of fetal limb abnormalities before 15 weeks: cause for concern. J Ultrasound Med. 2011 Jul; 30(7):1009-19. PMID: 21705735.
      View in: PubMed
    15. Ramos GA, Romine LE, Gindes L, Wolfson T, McGahan MC, D'Agostini D, Lee S, Jones MC, Pretorius DH. Evaluation of the fetal secondary palate by 3-dimensional ultrasonography. J Ultrasound Med. 2010 Mar; 29(3):357-64. PMID: 20194932.
      View in: PubMed
    16. Willis MJ, Bird LM, Dell'Aquilla M, Jones MC. Expanding the phenotype of mosaic trisomy 20. Am J Med Genet A. 2008 Feb 01; 146A(3):330-6. PMID: 18203170.
      View in: PubMed
    17. Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB. Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007 Dec 15; 143A(24):2963-72. PMID: 18000987.
      View in: PubMed
    18. Williamson RE, Darrow KN, Michaud S, Jacobs JS, Jones MC, Eberl DF, Maas RL, Liberman MC, Morton CC. Methylthioadenosine phosphorylase (MTAP) in hearing: gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis. Am J Med Genet A. 2007 Jul 15; 143A(14):1630-9. PMID: 17534888.
      View in: PubMed
    19. Pasco NY, Kikkawa DO, Korn BS, Punja KG, Jones MC. Facial nerve paralysis: an unrecognized cause of lower eyelid entropion in the pediatric population. Ophthal Plast Reconstr Surg. 2007 Mar-Apr; 23(2):126-9. PMID: 17413627.
      View in: PubMed
    20. Vaux KK, Jones MC, Benirschke K, Bird LM, Jones KL. Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway? Am J Med Genet A. 2005 Jan 30; 132A(3):314-7. PMID: 15690378.
      View in: PubMed
    21. Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L. Developmental outcome in Kabuki syndrome. Am J Med Genet A. 2005 Jan 30; 132A(3):263-4. PMID: 15523636.
      View in: PubMed
    22. Kosaki K, Bird LM, Maeda J, Higuchi M, Jones MC, Matsumoto M. Marfanoid habitus with abnormal situs. Am J Med Genet A. 2004 Jun 15; 127A(3):310-2. PMID: 15150786.
      View in: PubMed
    23. Jones MC. Prenatal diagnosis of cleft lip and palate: detection rates, accuracy of ultrasonography, associated anomalies, and strategies for counseling. Cleft Palate Craniofac J. 2002 Mar; 39(2):169-73. PMID: 11879073.
      View in: PubMed
    24. Gripp KW, Scott CI, Nicholson L, McDonald-McGinn DM, Ozeran JD, Jones MC, Lin AE, Zackai EH. Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet. 2002 Feb 15; 108(1):80-7. PMID: 11857556.
      View in: PubMed