Kelly Jones, MD

"I love helping patients and their families on their journey to find a genetic diagnosis and helping them manage their care once they have received a genetic diagnosis. I am honored to work at CHKD and with all of its amazing providers so that we can give the best possible care to our patients."

Dr. Kelly Jones

(757) 668-9723
Board Certifications

American Board of Med Genetics And Genomics

American Board of Pediatrics


Residency: University of Tennessee

Fellowship: University of Washington


A Florida native, Dr. Jones was inspired to become a physician as result of observing her parents, one of whom is a general pediatrician. She became interested in genetics over time as she learned more about the genetic disorders and how they impact an entire family.  

Her clinical practice is focused on the full spectrum of genetic disorders with particular interests in Turner syndrome, the manifestations of genetic disorders in diverse populations, and developmental outcomes of genetic disorders.

Clinical Interests
  • Dysmorphology
  • Developmental outcomes of genetic disorders

Research Areas
  • Turner syndrome
  • Manifestations of genetic disorders in diverse populations 
Honors & Awards
  • Coastal Virginia Magazine "Top Doc" 2018, 2019
  • Turner Syndrome Global Alliance Young Researcher Award (2017)
  • American College of Medical Genetics and Genomics
  • American Academy of Pediatrics 

1. Pena LDM, Jiang YH, Schoch K, Spillmann RC, Walley N, Stong N, Rapisardo Horn S, Sullivan JA, McConkie-Rosell A, Kansagra S, Smith EC, El-Dairi M, Bellet J, Keels MA, Jasien J, Kranz PG, Noel R, Nagaraj SK, Lark RK, Wechsler DSG, Del Gaudio D, Leung ML, Hendon LG, Parker CC, Jones KL, et al. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases. Genet Med. 2017 [Epub ahead of print]
2. Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, Jones KL, et al. Noonan syndrome in diverse populations. Am J Med Genet A. 2017; 173: 2323-2334.
PMID: 28748642
3. Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok, LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Jamra RA, Rolfs A, Leventer RJ, Lawson J, Roscioli T, Jansen FE, Ranza E, Korf CM, Lehesjok A-E, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan W-H, Tarnopolsky MA, Lauren BI, Wolff M, Dondit L, Pedro HF, Parisotto SE, KL Jones, et al. GRIN2B encephalopathy – novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J Med Genet. 2017;54:460-470.
PMID: 28377535
4. Kruszka P, Addissie YA, McGinn DE, Porras AR, Biggs E, Share M, Crowley TB, Chung BH, Mok GT, Mak CC, Muthukumarasamy P, Thong MK, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Mishra R, Shotelersuk V, Ekure EN, Sokunbi OJ, Kalu N, Ferreira CR, Duncan JM, Patil SJ, Jones KL 22q11.2 Deletion syndrome in diverse populations. Am J Med Genet A. 2017; 173A: 879-888.
PMCID: PMC5363275
5. Kruszka P, Porras AR, Sobering AK, Ikolo FA, La Qua S, Chung BH, Mok GT, Uwineza A, Mutesa L, Moresco A, Obergon MG, Sokunbi OJ, Kalu N, Joseph DA, Ikebudu D, Ugwu CE, Okoromah CA, Addissie YA, Pardo KL, Brough JJ, Lee NC, Girisha KM, Patil SJ, Ng IS, Min BC, Jamuar SS, Tibrewal S, Wallang B, Ganesh S, Sirisena ND, Dissanayake VH, Paththinige CS, Prabodha LB, Richieri-Costa A, Muthukumarasamy P, Thong MK, Jones KL, et al. Down syndrome in diverse populations. Am J Med Genet A. 2017; 173A:42-53.
PMID: 27991738
6. Jones KL, Schwarze U, Adam MP, et al. A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes. Am J Med Genet A. 2015; 167A:2691-2696
PMCID: PMC4654953
7. Jones KL and Adam MP. Evaluation and diagnosis of the dysmorphic infant. Clin Perinatol., 2015; 42: 243-26.
PMCID: PMC4707958
8. Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res, 2015; 25: 305-315.
PMCID: PMC4352885
9. Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, et al. Actionable, pathogenic incidental findings in 1000 participants’ exomes. Am J Human Genet, 2013; 93:631-640.
PMCID: PMC3791261
10. Jones KL, Pivnick EK, HinesDowell S, et al. A Triple threat: Down syndrome, congenital central hypoventilation syndrome and Hirschsprung disease. Pediatrics, 2012; 130: e1382-e1384.
PMID: 23045564

(757) 668-9723