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Marilyn Jones

Title(s)Professor Of Clinical, Pediatrics
SchoolVc-health Sciences-schools
Address9300 Campus Point Drive #7768
La Jolla CA 92037
Phone8/9-66--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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations. Am J Hum Genet. 2020 01 02; 106(1):121-128. Hughes JJ, Alkhunaizi E, Kruszka P, Pyle LC, Grange DK, Berger SI, Payne KK, Masser-Frye D, Hu T, Christie MR, Clegg NJ, Everson JL, Martinez AF, Walsh LE, Bedoukian E, Jones MC, Harris CJ, Riedhammer KM, Choukair D, Fechner PY, Rutter MM, Hufnagel SB, Roifman M, Kletter GB, Delot E, Vilain E, Lipinski RJ, Vezina CM, Muenke M, Chitayat D. PMID: 31883643.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    2. Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review. Clin Dysmorphol. 2019 Oct; 28(4):175-183. Galarreta CI, Wigby KM, Jones MC. PMID: 31162149.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. Partial Jacobsen syndrome phenotype in a patient with a de novo frameshift mutation in the ETS1 transcription factor. Cold Spring Harb Mol Case Stud. 2019 06; 5(3). Tootleman E, Malamut B, Akshoomoff N, Mattson SN, Hoffman HM, Jones MC, Printz B, Shiryaev SA, Grossfeld P. PMID: 31160359.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    4. Whole-exome sequencing reveals novel USP9X variant in female fetus with isolated agenesis of the corpus callosum. Clin Case Rep. 2019 Apr; 7(4):656-660. Lenberg JL, Pretorius DH, Rupe ES, Jones MC, Ramos GA, Andreasen TS. PMID: 30997057.
      View in: PubMed   Mentions:
    5. Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico. NPJ Genom Med. 2019; 4:5. Scocchia A, Wigby KM, Masser-Frye D, Del Campo M, Galarreta CI, Thorpe E, McEachern J, Robinson K, Gross A, Ajay SS, Rajan V, Perry DL, Belmont JW, Bentley DR, Jones MC, Taft RJ. PMID: 30792901.
      View in: PubMed   Mentions:
    6. A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis-lymphedema-telangiectasia syndrome. Am J Med Genet A. 2018 12; 176(12):2824-2828. Wangberg H, Wigby K, Jones MC. PMID: 30549413.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    7. Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. Am J Hum Genet. 2018 10 04; 103(4):602-611. 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. PMID: 30269814.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    8. Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature. Eur J Hum Genet. 2018 09; 26(9):1272-1281. Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM. PMID: 29904177.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    9. 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 06; 4(3). Sweeney NM, Nahas SA, Chowdhury S, Campo MD, Jones MC, Dimmock DP, Kingsmore SF. PMID: 29549119.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    10. 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. 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. PMID: 28513610.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    11. A fetal diagnostic center's referral rate for perinatal palliative care. Ann Palliat Med. 2018 Apr; 7(2):177-185. Marc-Aurele KL, Hull AD, Jones MC, Pretorius DH. PMID: 28595435.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    12. Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern. J Ultrasound Med. 2017 Aug; 36(8):1657-1668. Ho YK, Turley M, Marc-Aurele KL, Jones MC, Housman E, Engelkemier D, Romine LE, Khanna PC, Pretorius DH. PMID: 28417514.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    13. 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. Wigby K, Twigg SRF, Broderick R, Davenport KP, Wilkie AOM, Bickler SW, Jones MC. PMID: 28386950.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    14. Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder. Genet Med. 2017 10; 19(10):1179-1183. Jones MC, Topol SE, Rueda M, Oliveira G, Phillips T, Spencer EG, Torkamani A. PMID: 28383544.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    15. 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. 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. PMID: 27236920.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    16. 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. 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. PMID: 27001912.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    17. 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. Overcash RT, Gibu CK, Jones MC, Ramos GA, Andreasen TS. PMID: 26096958.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    18. Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency. J Immunol. 2015 Mar 15; 194(6):2551-60. 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. PMID: 25667416.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansAnimalsCells
    19. Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies. J Ultrasound Med. 2014 Jan; 33(1):167-76. Lu J, Vaidya N, Meng H, Dai Q, Romine LE, Jones MC, Pretorius DH. PMID: 24371113.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    20. Growth charts for 22q11 deletion syndrome. Am J Med Genet A. 2012 Nov; 158A(11):2672-81. Tarquinio DC, Jones MC, Jones KL, Bird LM. PMID: 22887711.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    21. Diagnosis of fetal limb abnormalities before 15 weeks: cause for concern. J Ultrasound Med. 2011 Jul; 30(7):1009-19. Rice KJ, Ballas J, Lai E, Hartney C, Jones MC, Pretorius DH. PMID: 21705735.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    22. Evaluation of the fetal secondary palate by 3-dimensional ultrasonography. J Ultrasound Med. 2010 Mar; 29(3):357-64. Ramos GA, Romine LE, Gindes L, Wolfson T, McGahan MC, D'Agostini D, Lee S, Jones MC, Pretorius DH. PMID: 20194932.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    23. Expanding the phenotype of mosaic trisomy 20. Am J Med Genet A. 2008 Feb 01; 146A(3):330-6. Willis MJ, Bird LM, Dell'Aquilla M, Jones MC. PMID: 18203170.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    24. Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007 Dec 15; 143A(24):2963-72. Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB. PMID: 18000987.
      View in: PubMed   Mentions: 13     Fields:    Translation:Humans
    25. 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. Williamson RE, Darrow KN, Michaud S, Jacobs JS, Jones MC, Eberl DF, Maas RL, Liberman MC, Morton CC. PMID: 17534888.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    26. Facial nerve paralysis: an unrecognized cause of lower eyelid entropion in the pediatric population. Ophthalmic Plast Reconstr Surg. 2007 Mar-Apr; 23(2):126-9. Pasco NY, Kikkawa DO, Korn BS, Punja KG, Jones MC. PMID: 17413627.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    27. Developmental outcome in Kabuki syndrome. Am J Med Genet A. 2005 Jan 30; 132A(3):263-4. Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L. PMID: 15523636.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    28. 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. Vaux KK, Jones MC, Benirschke K, Bird LM, Jones KL. PMID: 15690378.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    29. Marfanoid habitus with abnormal situs. Am J Med Genet A. 2004 Jun 15; 127A(3):310-2. Kosaki K, Bird LM, Maeda J, Higuchi M, Jones MC, Matsumoto M. PMID: 15150786.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    30. 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. Jones MC. PMID: 11879073.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    31. Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am J Med Genet. 2002 Feb 15; 108(1):80-7. Gripp KW, Scott CI, Nicholson L, McDonald-McGinn DM, Ozeran JD, Jones MC, Lin AE, Zackai EH. PMID: 11857556.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansPHPublic Health
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