Genomic Medicine


Rady Children's Institute for Genomic Medicine

Medical Group / IPA


Medical School

Baylor College of Medicine, St. George Hospital Medical School


St Josephs Hospital and Medical Center


Baylor College of Medicine, Baylor College of Medicine

Board Certifications

Clinical Genetics, Pediatrics




Dr. David Dimmock is senior medical director of Rady Children's Institute for Genomic Medicine.

An internationally renowned expert in the field of clinical genomic medicine, Dr. Dimmock is passionate about improving the standard of care for children and adults with inborn errors of metabolism. Through 20 years of clinical experience, his medical practice has become focused on the identification of rare disorders through newborn screening and advanced genomic techniques. He is especially recognized for bringing innovative diagnostic testing strategies into the clinic.

After graduating from St George's (University of London), Dr. Dimmock undertook training in pediatrics in the UK. With a passion for adult and pediatric metabolic diseases, he began a US pediatric residency program in Phoenix. He then completed genetics and clinical metabolic genetics fellowship training at Baylor College of Medicine (BCM) in Houston. After a faculty appointment at BCM, he moved on to the Medical College of Wisconsin, becoming an associate professor of pediatrics and the chair of the State of Wisconsin newborn screening metabolic disease subcommittee. In June 2016 he started his current post as the medical director of the newly formed Rady Children's Institute for Genomic Medicine.

Dr. Dimmock has been an invited advisor to the Food and Drug Administration, Centers for Disease Control and Prevention, and the Institute of Medicine. In addition to receiving substantive NIH grants, he has been the principal investigator on more than 20 clinical trials of novel therapeutics in rare metabolic diseases.


Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report.
Chandrasekar I, Tourney A, Loo K, Carmichael J, James K, Ellsworth KA, Dimmock D, Joseph M

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.
Maron JL, Kingsmore SF, Wigby K, Chowdhury S, Dimmock D, Poindexter B, Suhrie K, Vockley J, Diacovo T, Gelb BD, Stroustrup A, Powell CM, Trembath A, Gallen M, Mullen TE, Tanpaiboon P, Reed D, Kurfiss A, Davis JM

The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats.
Vanden Avond MA, Meng H, Beatka MJ, Helbling DC, Prom MJ, Sutton JL, Slick RA, Dimmock DP, Pertusati F, Serpi M, Pileggi E, Crutcher P, Thomas S, Lawlor MW

An online compendium of treatable genetic disorders.
Bick D, Bick SL, Dimmock DP, Fowler TA, Caulfield MJ, Scott RH

Clinical utility of genomic sequencing: a measurement toolkit.
Hayeems RZ, Dimmock D, Bick D, Belmont JW, Green RC, Lanpher B, Jobanputra V, Mendoza R, Kulkarni S, Grove ME, Taylor SL, Ashley E, Medical Genome Initiative.

Metagenomic sequencing and evaluation of the host response in the pediatric aerodigestive population.
Gatcliffe C, Rao A, Brigger M, Dimmock D, Hansen C, Montgomery J, Schlaberg R, Coufal NG, Farnaes L

At the intersection of precision medicine and population health: an implementation-effectiveness study of family health history based systematic risk assessment in primary care.
Orlando LA, Wu RR, Myers RA, Neuner J, McCarty C, Haller IV, Harry M, Fulda KG, Dimmock D, Rakhra-Burris T, Buchanan A, Ginsburg GS

A Prospective Study of Parental Perceptions of Rapid Whole-Genome and -Exome Sequencing among Seriously Ill Infants.
Cakici JA, Dimmock DP, Caylor SA, Gaughran M, Clarke C, Triplett C, Clark MM, Kingsmore SF, Bloss CS

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm.
Dimmock DP, Clark MM, Gaughran M, Cakici JA, Caylor SA, Clarke C, Feddock M, Chowdhury S, Salz L, Cheung C, Bird LM, Hobbs C, Wigby K, Farnaes L, Bloss CS, Kingsmore SF, RCIGM Investigators.

Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing.
Kingsmore SF, Henderson A, Owen MJ, Clark MM, Hansen C, Dimmock D, Chambers CD, Jeliffe-Pawlowski LL, Hobbs C

ECHS1 disease in two unrelated families of Samoan descent: Common variant - rare disorder.
Simon MT, Eftekharian SS, Ferdinandusse S, Tang S, Naseri T, Reupena MS, McGarvey ST, Minster RL, Weeks DE, Samoan Obesity, Lifestyle, and Genetic Adaptations (OLaGA) Study Group., Nguyen DD, Lee S, Ellsworth KA, Vaz FM, Dimmock D, Pitt J, Abdenur JE

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Marshall CR, Chowdhury S, Taft RJ, Lebo MS, Buchan JG, Harrison SM, Rowsey R, Klee EW, Liu P, Worthey EA, Jobanputra V, Dimmock D, Kearney HM, Bick D, Kulkarni S, Taylor SL, Belmont JW, Stavropoulos DJ, Lennon NJ, Medical Genome Initiative.

Functional Precision Medicine Identifies New Therapeutic Candidates for Medulloblastoma.
Rusert JM, Juarez EF, Brabetz S, Jensen J, Garancher A, Chau LQ, Tacheva-Grigorova SK, Wahab S, Udaka YT, Finlay D, Seker-Cin H, Reardon B, Gröbner S, Serrano J, Ecker J, Qi L, Kogiso M, Du Y, Baxter PA, Henderson JJ, Berens ME, Vuori K, Milde T, Cho YJ, Li XN, Olson JM, Reyes I, Snuderl M, Wong TC, Dimmock DP, Nahas SA, Malicki D, Crawford JR, Levy ML, Van Allen EM, Pfister SM, Tamayo P, Kool M, Mesirov JP, Wechsler-Reya RJ

Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis.
Sanford E, Jones MC, Brigger M, Hammer M, Giudugli L, Kingsmore SF, Dimmock D, Bainbridge MN

Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular Disease.
Aryan Z, Szanto A, Pantazi A, Reddi T, Rheinstein C, Powers W, Wilson E, Deo RC, Chowdhury S, Salz L, Dimmock D, Nahas S, Benson W, Kingsmore SF, MacRae CA, Vuzman D

Diagnosis of cytomegalovirus infection from clinical whole genome sequencing.
Ramchandar N, Ding Y, Farnaes L, Dimmock D, Hobbs C, Kingsmore SF, Bainbridge M

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic.
Marshall CR, Bick D, Belmont JW, Taylor SL, Ashley E, Dimmock D, Jobanputra V, Kearney HM, Kulkarni S, Rehm H, Medical Genome Initiative.

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
Friederich MW, Elias AF, Kuster A, Laugwitz L, Larson AA, Landry AP, Ellwood-Digel L, Mirsky DM, Dimmock D, Haven J, Jiang H, MacLean KN, Styren K, Schoof J, Goujon L, Lefrancois T, Friederich M, Coughlin CR 2nd, Banerjee R, Haack TB, Van Hove JLK

The Evaluation of Hematologic Screening and Perioperative Management in Patients with Noonan Syndrome: A Retrospective Chart Review.
Briggs B, Savla D, Ramchandar N, Dimmock D, Le D, Thornburg CD

Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system.
Kingsmore SF, Ramchandar N, James K, Niemi AK, Feigenbaum A, Ding Y, Benson W, Hobbs C, Nahas S, Chowdhury S, Dimmock D

Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy.
Kadakia S, Farnaes L, Dimmock D, Chowdhury S, Ding Y, Anderson EJ, Kingsmore S, Newfield RS

Results and Lessons of a Pilot Study of Cascade Screening for Familial Hypercholesterolemia in US Primary Care Practices.
Neuner J, Dimmock D, Kirschner AP, Beaudry H, Paradowski J, Orlando L

Biallelic loss of GNAS in a patient with pediatric medulloblastoma.
Tokita MJ, Nahas S, Briggs B, Malicki DM, Mesirov JP, Reyes IAC, Farnaes L, Levy ML, Kingsmore SF, Dimmock D, Crawford JR, Wechsler-Reya RJ

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Kingsmore SF, Cakici JA, Clark MM, Gaughran M, Feddock M, Batalov S, Bainbridge MN, Carroll J, Caylor SA, Clarke C, Ding Y, Ellsworth K, Farnaes L, Hildreth A, Hobbs C, James K, Kint CI, Lenberg J, Nahas S, Prince L, Reyes I, Salz L, Sanford E, Schols P, Sweeney N, Tokita M, Veeraraghavan N, Watkins K, Wigby K, Wong T, Chowdhury S, Wright MS, Dimmock D, RCIGM Investigators.

The mitochondrial carrier Citrin plays a role in regulating cellular energy during carcinogenesis.
Rabinovich S, Silberman A, Adler L, Agron S, Levin-Zaidman S, Bahat A, Porat Z, Ben-Zeev E, Geva I, Itkin M, Malitsky S, Buchaklian A, Helbling D, Dimmock D, Erez A

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.

Rady Children's updates the Doctor Finder annually. We are not responsible for omissions or errors. Prior to making an appointment, please be sure to check with your health plan to confirm coverage. If you see an error or omission on a physician's profile page, please contact us at refsvc@rchsd.org.