Dustin Baldridge  baldridge_d@wustl.edu

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Assistant Professor, Genetics and Genomic Medicine
Genetics and Genomic Medicine

phone: (314) 454-6093

Education

  • BS, Summa Cum Laude, University of Dallas2002
  • PhD, Baylor College of Medicine2010
  • MD, Baylor College of Medicine2011

Training

  • Residency, St. Louis Children's Hospital and Washington University in St. Louis2011 - 2014
  • Chief Residency, St. Louis Children's Hospital and Washington University in St. Louis2014 - 2015

Licensure and Board Certification

  • 2014 - PresAmerican Board of Pediatrics
  • 2014 - PresMO, State Medical License

Honors and Awards

  • Partners in Excellence Scholarship to the University of Dallas1998 - 2002
  • Honorable Mention, Barry M. Goldwater Scholarship Foundation2000
  • Barry M. Goldwater Scholar2001
  • Phi Beta Kappa Member2001
  • Sister Clodovia Lockett Endowed Scholarship in Pre-Medical Studies2001
  • Young Investigator Award from the American Society for Bone and Mineral Research2007
  • 3rd Place Oral Presentation, Baylor College of Medicine Genetics Department Retreat2009
  • American Society of Human Genetics Trainee Research Award Finalist2009
  • Certificate of Completion, Baylor College of Medicine Ethics Track2011
  • Genius Prize, Washington University ICTS Precision Medicine Symposium2018
  • Fellow of The Cordell Institute for Policy in Medicine & Law2021

Recent Publications view all (62)


  1. Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. Ann Rheum Dis. 2022;81(10):1453-1464. PMCID:PMC9484401  PMID:35868845 
  2. GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy. Am J Hum Genet. 2022. PMID:36103875 
  3. The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Hum Mol Genet. 2022;31(17):2934-2950. PMCID:PMC9433733  PMID:35405010 
  4. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder. Genet Med. 2022;24(7):1567-1582. PMCID:PMC9426662  PMID:35482014 
  5. Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay. Mol Genet Metab. 2022;136(1):65-73. PMID:35361529 
  6. Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease. Mol Genet Genomic Med. 2022;10(4):e1892. PMCID:PMC9000935  PMID:35247231 
  7. A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C. Proc Natl Acad Sci U S A. 2022;119(6). PMCID:PMC8832968  PMID:35121658 
  8. Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial. JAMA Pediatr. 2021;175(12):1218-1226. PMCID:PMC8477301  PMID:34570182 
  9. Sex- and mutation-specific p53 gain-of-function activity in gliomagenesis. Cancer Res Commun. 2021;1(3):148-163. PMCID:PMC8694557  PMID:34957471 
  10. Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation. J Genet Couns. 2021. PMID:34374469 
  11. Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA. Mol Genet Metab. 2021. PMID:34412939 
  12. Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7. BMC Biol. 2021;19(1):147. PMCID:PMC8317352  PMID:34320968 
  13. One is the loneliest number: genotypic matchmaking using the electronic health record. Genet Med. 2021. PMID:34230636 
  14. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021. PMID:34163037 
  15. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples. J Genet Couns. 2021. PMID:34115423 
  16. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021. PMID:34113007 
  17. A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy. Cold Spring Harb Mol Case Stud. 2021;7(3). PMCID:PMC8208045  PMID:33811063 
  18. PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. Clin Genet. 2021. PMID:33963760 
  19. Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision. Orphanet J Rare Dis. 2021;16(1):206. PMCID:PMC8103593  PMID:33962631 
  20. Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum. Mol Genet Genomic Med. 2021;e1692. PMID:33960148 
  21. Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. Mol Genet Genomic Med. 2021;e1665. PMID:33955715 
  22. Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2). Am J Med Genet A. 2021. PMID:33931933 
  23. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. Genet Med. 2021. PMID:33833410 
  24. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases. Genet Med. 2021. PMID:33580225 
  25. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science. Genet Med. 2021;23(2):259-271. PMCID:PMC7867619  PMID:33093671 
  26. DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature. Mol Genet Genomic Med. 2020;8(12):e1544. PMCID:PMC7767569  PMID:33159716 
  27. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genet Med. 2020. PMID:33239752 
  28. Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses. Am J Med Genet A. 2020. PMID:33184947 
  29. Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice. J Genet Couns. 2020. PMID:33108040 
  30. De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects. Am J Hum Genet. 2020;107(2):311-324. PMCID:PMC7413890  PMID:32738225 
  31. Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder. Brain. 2020;143(8):2437-2453. PMCID:PMC7447524  PMID:32761064 
  32. MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism. Am J Med Genet B Neuropsychiatr Genet. 2020;183(4):227-233. PMID:32267091 
  33. Precise breakpoint detection in a patient with 9p- syndrome. Cold Spring Harb Mol Case Stud. 2020;6(3). PMCID:PMC7304358  PMID:32532883 
  34. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. Am J Med Genet A. 2020;182(5):1053-1065. PMCID:PMC7295006  PMID:32083401 
  35. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation. Am J Hum Genet. 2020;106(4):570-583. PMCID:PMC7118694  PMID:32197074 
  36. Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency. Am J Hum Genet. 2020;106(2):234-245. PMCID:PMC7010978  PMID:31928709 
  37. Cellular and molecular characterization of multiplex autism in human induced pluripotent stem cell-derived neurons. Mol Autism. 2019;10:51. PMCID:PMC6936127  PMID:31893020 
  38. 22q11.2 duplication: a review of neuropsychiatric correlates and a newly observed case of prototypic sociopathy. Cold Spring Harb Mol Case Stud. 2019;5(6). PMCID:PMC6913156  PMID:31836587 
  39. VarSight: prioritizing clinically reported variants with binary classification algorithms. BMC Bioinformatics. 2019;20(1):496. PMCID:PMC6792253  PMID:31615419 
  40. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects. Am J Hum Genet. 2019;105(4):854-868. PMID:31585109 
  41. Genomics in medicine: a novel elective rotation for internal medicine residents. Postgrad Med J. 2019;95(1128):569-572. PMID:31439813 
  42. The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease. Clin Genet.. 2019. PMID:31448412 
  43. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019;105(2):413-424. PMCID:PMC6699142  PMID:31327508 
  44. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Hum Mutat. 2019;40(8):1115-1126. PMCID:PMC6688907  PMID:31264822 
  45. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. Biol Psychiatry. 2019. PMID:31443933 
  46. Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. Clin Imaging. 2019;58:108-113. PMID:31299614 
  47. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. Am J Hum Genet. 2019;104(6):1127-1138. PMCID:PMC6562152  PMID:31155284 
  48. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome. Am J Hum Genet. 2018;103(6):968-975. PMCID:PMC6288318  PMID:30414627 
  49. Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome. Cell Rep. 2018;25(6):1404-1414.e6. PMCID:PMC6261530  PMID:30403997 
  50. Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. Pediatr Res. 2018. PMID:29967526 
  51. Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Hum Mutat. 2017. PMID:28726266 
  52. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. Genet Med. 2017. PMID:28252636 
  53. Digynic triploidy: utility and challenges of noninvasive prenatal testing. Clin Case Rep. 2015;3(6):406-10. PMCID:PMC4498852  PMID:26185638 
  54. Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. PLoS Genet. 2014;10(3):e1004258. PMCID:PMC3967950  PMID:24676022 
  55. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res. 2013;28(7):1523-30. PMCID:PMC3688672  PMID:23408678 
  56. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 2011;26(3):666-72. PMCID:PMC3179293  PMID:20839288 
  57. Generalized connective tissue disease in Crtap-/- mouse. PLoS One. 2010;5(5):e10560. PMCID:PMC2868021  PMID:20485499 
  58. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2010;86(4):551-9. PMCID:PMC2850430  PMID:20362275 
  59. Signaling pathways in human skeletal dysplasias. Annu Rev Genomics Hum Genet. 2010;11:189-217. PMID:20690819 
  60. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat. 2008;29(12):1435-42. PMCID:PMC2671575  PMID:18566967 
  61. The presence of germ line mosaicism in cleidocranial dysplasia. Clin Genet. 2007;71(6):589-91. PMID:17539909 
  62. Sequence and structure of the mouse connexin45 gene. Biosci Rep. 2001;21(5):683-9. PMID:12168774 
Last updated: 09/30/2022
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