Marilyn Jones, M.D.


3020 Children's Way
MC 5031
San Diego, CA 92123




Rady Children's Specialists of San Diego

Medical Group / IPA


Medical School

Columbia University College of Physicians and Surgeons


UC San Diego


UC San Diego

Board Certifications

Clinical Genetics, Pediatrics




Dr. Marilyn Jones is the clinical director of the Genetics and Dysmorphology Division at Rady Children's Hospital-San Diego and a professor of clinical pediatrics at UC San Diego.

Dr. Jones graduated from Wellesley College, from which she recently received the Alumnae Achievement Award. She earned her medical degree from Columbia University College of Physicians and Surgeons, where she was elected into the Alpha Omega Alpha Honor Society, before completing a pediatric residency and a fellowship in dysmorphology at UC San Diego.

A member and past president of the American Cleft Palate-Craniofacial Association, Dr. Jones directs the Cleft Palate and Craniofacial Treatment Programs at Rady Children's. She has also served as medical director of the Bernardy Center for Medically Fragile Children since 1980.

As director of the Prenatal Diagnosis Center at UC San Diego, Dr. Jones's research focuses on understanding the basis for normal and abnormal morphogenesis.


A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis-lymphedema-telangiectasia syndrome.
Wangberg H, Wigby K, Jones MC

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
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

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.
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, Care for Rare Canada Consortium.

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.
Sweeney NM, Nahas SA, Chowdhury S, Campo MD, Jones MC, Dimmock DP, Kingsmore SF, RCIGM Investigators.

A fetal diagnostic center's referral rate for perinatal palliative care.
Marc-Aurele KL, Hull AD, Jones MC, Pretorius DH

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay.
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

Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern.
Ho YK, Turley M, Marc-Aurele KL, Jones MC, Housman E, Engelkemier D, Romine LE, Khanna PC, Pretorius DH

Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.
Wigby K, Twigg SRF, Broderick R, Davenport KP, Wilkie AOM, Bickler SW, Jones MC

Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.
Jones MC, Topol SE, Rueda M, Oliveira G, Phillips T, Spencer EG, Torkamani A

Evaluation of Ventilation Tube Placement and Long-term Audiologic Outcome in Children With Cleft Palate.
Kim E, Kanack MD, Dang-Vu MD, Carvalho D, Jones MC, Gosman AA

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
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

Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.
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

Maternal and fetal capillary malformation-arteriovenous malformation (CM-AVM) due to a novel RASA1 mutation presenting with prenatal non-immune hydrops fetalis.
Overcash RT, Gibu CK, Jones MC, Ramos GA, Andreasen TS

The Society for Craniofacial Genetics and Developmental Biology 37th annual meeting.
Richtsmeier JT, Jones MC, Lozanoff S, Trainor PA

Immunodeficiency and autoimmune enterocolopathy linked to NFAT5 haploinsufficiency.
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

Regions of homozygosity identified by oligonucleotide SNP arrays: evaluating the incidence and clinical utility.
Wang JC, Ross L, Mahon LW, Owen R, Hemmat M, Wang BT, El Naggar M, Kopita KA, Randolph LM, Chase JM, Matas Aguilera MJ, Siles JL, Church JA, Hauser N, Shen JJ, Jones MC, Wierenga KJ, Jiang Z, Haddadin M, Boyar FZ, Anguiano A, Strom CM, Sahoo T

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.
Bai S, Lozada A, Jones MC, Dietz HC, Dempsey M, Das S

Impact of Cell-Free Fetal DNA Screening on Patients' Choice of Invasive Procedures after a Positive California Prenatal Screen Result.
Shah FT, French KS, Osann KE, Bocian M, Jones MC, Korty L

Prenatally diagnosed fetal split-hand/foot malformations often accompany a spectrum of anomalies.
Lu J, Vaidya N, Meng H, Dai Q, Romine LE, Jones MC, Pretorius DH

Growth charts for 22q11 deletion syndrome.
Tarquinio DC, Jones MC, Jones KL, Bird LM

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG

Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review.
Izumi K, Konczal LL, Mitchell AL, Jones MC

Diagnosis of fetal limb abnormalities before 15 weeks: cause for concern.
Rice KJ, Ballas J, Lai E, Hartney C, Jones MC, Pretorius DH

Evaluation of the fetal secondary palate by 3-dimensional ultrasonography.
Ramos GA, Romine LE, Gindes L, Wolfson T, McGahan MC, D'Agostini D, Lee S, Jones MC, Pretorius DH

Developing a national collaborative study system for rare genetic diseases.
Watson MS, Epstein C, Howell RR, Jones MC, Korf BR, McCabe ER, Simpson JL

See the full listing of this physician's publications on PubMed, a service of the National Library of Medicine.

PubMed is a third-party website and not affiliated with Rady Children's Hospital-San Diego.

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