Marilyn Jones, M.D.


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




Rady Children's Specialists of San Diego

Medical Group / IPA

Rady Children's Specialists

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.


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 SR, 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 AO

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

Expanding the phenotype of mosaic trisomy 20.
Willis MJ, Bird LM, Dell'Aquilla M, Jones MC

Brain anomalies in encephalocraniocutaneous lipomatosis.
Moog U, Jones MC, Viskochil DH, Verloes A, Van Allen MI, Dobyns WB

High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor.
Jackson EM, Shaikh TH, Gururangan S, Jones MC, Malkin D, Nikkel SM, Zuppan CW, Wainwright LM, Zhang F, Biegel JA

Methylthioadenosine phosphorylase (MTAP) in hearing: gene disruption by chromosomal rearrangement in a hearing impaired individual and model organism analysis.
Williamson RE, Darrow KN, Michaud S, Jacobs JS, Jones MC, Eberl DF, Maas RL, Liberman MC, Morton CC

Facial nerve paralysis: an unrecognized cause of lower eyelid entropion in the pediatric population.
Pasco NY, Kikkawa DO, Korn BS, Punja KG, Jones MC

Dizygotic twin pregnancy conceived with assisted reproductive technology associated with chromosomal anomaly, imprinting disorder, and monochorionic placentation.
Yoon G, Beischel LS, Johnson JP, Jones MC

Megalourethra: A report of three cases associated with maternal diabetes and a review of the literature--is sonic hedgehog the common pathway?
Vaux KK, Jones MC, Benirschke K, Bird LM, Jones KL

Developmental outcome in Kabuki syndrome.
Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L

Marfanoid habitus with abnormal situs.
Kosaki K, Bird LM, Maeda J, Higuchi M, Jones MC, Matsumoto M

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.