Department of Pediatrics

Education

• BS, Summa Cum Laude, University of Dallas, 2002
• PhD, Baylor College of Medicine, 2010
• MD, Baylor College of Medicine, 2011

Training

• Residency, St. Louis Children's Hospital and Washington University in St. Louis, 2011 - 2014
• Chief Residency, St. Louis Children's Hospital and Washington University in St. Louis, 2014 - 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 Dallas, 1998 - 2002
• Honorable Mention, Barry M. Goldwater Scholarship Foundation, 2000
• Barry M. Goldwater Scholar, 2001
• Phi Beta Kappa Member, 2001
• Sister Clodovia Lockett Endowed Scholarship in Pre-Medical Studies, 2001
• Young Investigator Award from the American Society for Bone and Mineral Research, 2007
• 3rd Place Oral Presentation, Baylor College of Medicine Genetics Department Retreat, 2009
• American Society of Human Genetics Trainee Research Award Finalist, 2009
• Certificate of Completion, Baylor College of Medicine Ethics Track, 2011
• Genius Prize, Washington University ICTS Precision Medicine Symposium, 2018
• Fellow of The Cordell Institute for Policy in Medicine & Law, 2021

Recent Publications view all (55)

Publication Co-Authors

Kathleen Sisco

Marwan Shinawi, M.D.

Barbara B. Warner, M.D., MSc

Jennifer A Wambach, M.D.

Thomas Ferkol, M.D.

Rachel Slaugh, MS, CGC

Linda Manwaring

Jorge L Granadillo, MD, MSc.

Stephen C. Pak, Ph.D.

Joshua B. Rubin, M.D., Ph.D.

Dorothy Katherine Grange, M.D.

Beth A. Kozel, M.D., Ph.D.

Patricia Dickson

Jennifer Heeley

Gary A. Silverman, M.D., Ph.D.

Tomi L. Toler, MS, CGC

Francis Sessions Cole, III, M.D.

Washington University has a long tradition of collaboration amongst colleagues.The faculty above have co-authored publications with Dustin Baldridge

1. NICUSeq Study Group., Krantz ID, Medne L, Weatherly JM, Wild KT, Biswas S, Devkota B, Hartman T, Brunelli L, Fishler KP, Abdul-Rahman O, Euteneuer JC, Hoover D, Dimmock D, Cleary J, Farnaes L, Knight J, Schwarz AJ, Vargas-Shiraishi OM, Wigby K, Zadeh N, Shinawi M, Wambach JA, Baldridge D, Cole FS, Wegner DJ, Urraca N, Holtrop S, Mostafavi R, Mroczkowski HJ, Pivnick EK, Ward JC, Talati A, Brown CW, Belmont JW, Ortega JL, Robinson KD, Brocklehurst WT, Perry DL, Ajay SS, Hagelstrom RT, Bennett M, Rajan V, Taft RJ. 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 
2. Rockwell NC, Yang W, Warrington NM, Staller MV, Griffith M, Griffith OL, Gurnett CA, Cohen BA, Baldridge D, Rubin JB. Sex- and mutation-specific p53 gain-of-function activity in gliomagenesis. Cancer Res Commun. 2021;1(3):148-163. PMCID:PMC8694557  PMID:34957471 
3. Kohler JN, Kelley EG, Boyd BM, Sillari CH, Marwaha S, Undiagnosed Diseases Network., Wheeler MT. Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation. J Genet Couns. 2021. PMID:34374469 
4. Boulin T, Itani O, El Mouridi S, Leclercq-Blondel A, Gendrel M, Macnamara E, Soldatos A, Murphy JL, Gorman MP, Lindsey A, Shimada S, Turner D, Silverman GA, Baldridge D, Undiagnosed Diseases Network., Malicdan MC, Schedl T, Pak SC. Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA. Mol Genet Metab. 2021. PMID:34412939 
5. Meganathan K, Prakasam R, Baldridge D, Gontarz P, Zhang B, Urano F, Bonni A, Maloney SE, Turner TN, Huettner JE, Constantino JN, Kroll KL. 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 
6. Brokamp E, Koziura ME, Phillips JA 3rd, Tang LA, Cogan JD, Rives LC, Robertson AK, Duncan L, Bican A, Peterson JF, Newman JH, Hamid R, Bastarache L, Undiagnosed Diseases Network.. One is the loneliest number: genotypic matchmaking using the electronic health record. Genet Med. 2021. PMID:34230636 
7. Rodan LH, Spillmann RC, Kurata HT, Lamothe SM, Maghera J, Jamra RA, Alkelai A, Antonarakis SE, Atallah I, Bar-Yosef O, Bilan F, Bjorgo K, Blanc X, Van Bogaert P, Bolkier Y, Burrage LC, Christ BU, Granadillo JL, Dickson P, Donald KA, Dubourg C, Eliyahu A, Emrick L, Engleman K, Gonfiantini MV, Good JM, Kalser J, Kloeckner C, Lachmeijer G, Macchiaiolo M, Nicita F, Odent S, O'Heir E, Ortiz-Gonzalez X, Pacio-Miguez M, Palomares-Bralo M, Pena L, Platzer K, Quinodoz M, Ranza E, Rosenfeld JA, Roulet-Perez E, Santani A, Santos-Simarro F, Pode-Shakked B, Skraban C, Slaugh R, Superti-Furga A, Thiffault I, van Jaabrsveld RH, Vincent M, Wang HG, Zacher P, Undiagnosed Diseases Network., Rush E, Pitt GS, Au PYB, Shashi V. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations. Genet Med. 2021. PMID:34163037 
8. McConkie-Rosell A, Schoch K, Sullivan J, Spillmann RC, Cope H, Tan QK, Palmer CGS, Undiagnosed Disease Network., Hooper SR, Shashi V. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples. J Genet Couns. 2021. PMID:34115423 
9. Ravenscroft TA, Phillips JB, Fieg E, Bajikar SS, Peirce J, Wegner J, Luna AA, Fox EJ, Yan YL, Rosenfeld JA, Zirin J, Kanca O, Undiagnosed Diseases Network., Benke PJ, Cameron ES, Strehlow V, Platzer K, Jamra RA, Klöckner C, Osmond M, Licata T, Rojas S, Dyment D, Chong JSC, Lincoln S, Stoler JM, Postlethwait JH, Wangler MF, Yamamoto S, Krier J, Westerfield M, Bellen HJ. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11. Genet Med. 2021. PMID:34113007 
10. Briere LC, Walker MA, High FA, Cooper C, Rogers CA, Callahan CJ, Ishimura R, Ichimura Y, Caruso PA, Sharma N, Brokamp E, Koziura ME, Mohammad SS, Dale RC, Riley LG, Undiagnosed Diseases Network., Phillips JA, Komatsu M, Sweetser DA. 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 
11. Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S, Undiagnosed Diseases Network., DDD Study., Bi W. PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy. Clin Genet. 2021. PMID:33963760 
12. Baldridge D, Wangler MF, Bowman AN, Yamamoto S, Undiagnosed Diseases Network., Schedl T, Pak SC, Postlethwait JH, Shin J, Solnica-Krezel L, Bellen HJ, Westerfield M. 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 
13. Sturrock BRH, Macnamara EF, McGuire P, Kruk S, Yang I, Murphy J, Undiagnosed Diseases Network., Tifft CJ, Gordon-Lipkin E. 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 
14. Cope H, Barseghyan H, Bhattacharya S, Fu Y, Hoppman N, Marcou C, Walley N, Rehder C, Deak K, Alkelai A, Undiagnosed Diseases Network., Vilain E, Shashi V. 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 
15. Rosano KK, Wegner DJ, Shinawi M, Baldridge D, Bucelli RC, Dahiya S, White FV, Willing MC, McAllister W, Taft RJ, Bluske K, Buchanan A, Cole FS, Wambach JA. 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 
16. Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH, Undiagnosed Diseases Network., Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain. Genet Med. 2021. PMID:33833410 
17. Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ, Undiagnosed Diseases Network., Sunyaev SR, Kohane IS. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases. Genet Med. 2021. PMID:33580225 
18. Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT, Undiagnosed Diseases Network., Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. 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 
19. Meissner LE, Macnamara EF, D'Souza P, Yang J, Vezina G, Undiagnosed Diseases Network., Ferreira CR, Zein WM, Tifft CJ, Adams DR. 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 
20. Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L, Undiagnosed Diseases Network., Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids. Genet Med. 2020. PMID:33239752 
21. Granadillo JL, Wegner DJ, Paul AJ, Willing M, Sisco K, Tedder ML, Sadikovic B, Wambach JA, Baldridge D, Cole FS, Undiagnosed Diseases Network.. Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses. Am J Med Genet A. 2020. PMID:33184947 
22. Studwell CM, Kelley EG, Undiagnosed Diseases Network., Sinsheimer JS, Palmer CGS, LeBlanc K. Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice. J Genet Couns. 2020. PMID:33108040 
23. Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D, SYNAPS Study Group., Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. 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 
24. Schneeberger PE, Kortüm F, Korenke GC, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb BD, Coci EG, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier EM, Javaher-Haghighi P, Bedeschi MF, Ajmone PF, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen MEC, Beysen D, Kooy RF, Houlden H, Murphy D, Doosti M, Karimiani EG, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, Undiagnosed Diseases Network ., Gelb BD, Kurth I, Hempel M, Kutsche K. 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 
25. Mansfield P, Constantino JN, Baldridge D. 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 
26. Ng J, Sams E, Baldridge D, Kremitzki M, Wegner DJ, Lindsay T, Fulton R, Cole FS, Turner TN. Precise breakpoint detection in a patient with 9p- syndrome. Cold Spring Harb Mol Case Stud. 2020;6(3). PMCID:PMC7304358  PMID:32532883 
27. Baldridge D, Spillmann RC, Wegner DJ, Wambach JA, White FV, Sisco K, Toler TL, Dickson PI, Cole FS, Shashi V, Grange DK. Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome. Am J Med Genet A. 2020;182(5):1053-1065. PMCID:PMC7295006  PMID:32083401 
28. Mao D, Reuter CM, Ruzhnikov MRZ, Beck AE, Farrow EG, Emrick LT, Rosenfeld JA, Mackenzie KM, Robak L, Wheeler MT, Burrage LC, Jain M, Liu P, Calame D, Küry S, Sillesen M, Schmitz-Abe K, Tonduti D, Spaccini L, Iascone M, Genetti CA, Koenig MK, Graf M, Tran A, Alejandro M, Undiagnosed Diseases Network., Lee BH, Thiffault I, Agrawal PB, Bernstein JA, Bellen HJ, Chao HT. 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 
29. Beck DB, Petracovici A, He C, Moore HW, Louie RJ, Ansar M, Douzgou S, Sithambaram S, Cottrell T, Santos-Cortez RLP, Prijoles EJ, Bend R, Keren B, Mignot C, Nougues MC, Õunap K, Reimand T, Pajusalu S, Zahid M, Saqib MAN, Buratti J, Seaby EG, McWalter K, Telegrafi A, Baldridge D, Shinawi M, Leal SM, Schaefer GB, Stevenson RE, Banka S, Bonasio R, Fahrner JA. 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 
30. Lewis EMA, Meganathan K, Baldridge D, Gontarz P, Zhang B, Bonni A, Constantino JN, Kroll KL. Cellular and molecular characterization of multiplex autism in human induced pluripotent stem cell-derived neurons. Mol Autism. 2019;10:51. PMCID:PMC6936127  PMID:31893020 
31. Vyas S, Constantino JN, Baldridge D. 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 
32. Holt JM, Wilk B, Birch CL, Brown DM, Gajapathy M, Moss AC, Sosonkina N, Wilk MA, Anderson JA, Harris JM, Kelly JM, Shaterferdosian F, Uno-Antonison AE, Weborg A, Undiagnosed Diseases Network., Worthey EA. VarSight: prioritizing clinically reported variants with binary classification algorithms. BMC Bioinformatics. 2019;20(1):496. PMCID:PMC6792253  PMID:31615419 
33. Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC, Undiagnosed Diseases Network., McConkie-Rosell A, McDonald M, Freedman SF, Rivière JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M. 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 
34. Geng LN, Kohler JN, Levonian P, Members of the Undiagnosed Diseases Network., Bernstein JA, Ford JM, Ahuja N, Witteles R, Hom J, Wheeler M. Genomics in medicine: a novel elective rotation for internal medicine residents. Postgrad Med J. 2019;95(1128):569-572. PMID:31439813 
35. McConkie-Rosell A, Schoch K, Sullivan J, Cope H, Spillmann R, Palmer CGS, Pena L, Jiang YH, Daniels N, Walley N, Tan KG; Undiagnosed Diseases Network, Hooper SR, Shashi V.. The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease. Clin Genet.. 2019. PMID:31448412 
36. Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC, Undiagnosed Diseases Network., Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. 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 
37. Shashi V, Geist J, Lee Y, Yoo Y, Shin U, Schoch K, Sullivan J, Stong N, Smith E, Jasien J, Kranz P, Undiagnosed Diseases Network., Lee Y, Shin YB, Wright NT, Choi M, Kontrogianni-Konstantopoulos A. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Hum Mutat. 2019;40(8):1115-1126. PMCID:PMC6688907  PMID:31264822 
38. Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V, Undiagnosed Diseases Network., Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleefstra T, Penzes P, Wood SA, Burne T, Pierson TM, Piper M, Gécz J, Jolly LA. 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 
39. Bhatia A, Mobley BC, Cogan J, Koziura ME, Brokamp E, Phillips J, Newman J, Undiagnosed Diseases Network (UDN)., Moore SA, Hamid R, Members of the Undiagnosed Diseases Network.. Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy. Clin Imaging. 2019;58:108-113. PMID:31299614 
40. Nicoli ER, Weston MR, Hackbarth M, Becerril A, Larson A, Zein WM, Baker PR 2nd, Burke JD, Dorward H, Davids M, Huang Y, Adams DR, Zerfas PM, Chen D, Markello TC, Toro C, Wood T, Elliott G, Vu M, Undiagnosed Diseases Network., Zheng W, Garrett LJ, Tifft CJ, Gahl WA, Day-Salvatore DL, Mindell JA, Malicdan MCV. 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 
41. Wambach JA, Wegner DJ, Patni N, Kircher M, Willing MC, Baldridge D, Xing C, Agarwal AK, Vergano SAS, Patel C, Grange DK, Kenney A, Najaf T, Nickerson DA, Bamshad MJ, Cole FS, Garg A. 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 
42. Cheng C, Deng PY, Ikeuchi Y, Yuede C, Li D, Rensing N, Huang J, Baldridge D, Maloney SE, Dougherty JD, Constantino J, Jahani-Asl A, Wong M, Wozniak DF, Wang T, Klyachko VA, Bonni A. Characterization of a Mouse Model of Börjeson-Forssman-Lehmann Syndrome. Cell Rep. 2018;25(6):1404-1414.e6. PMCID:PMC6261530  PMID:30403997 
43. Wambach JA, Wegner DJ, Yang P, Shinawi M, Baldridge D, Betleja E, Shimony JS, Spencer D, Hackett BP, Andrews MV, Ferkol T, Dutcher SK, Mahjoub MR, Cole FS. Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures. Pediatr Res. 2018. PMID:29967526 
44. Wambach JA, Stettner GM, Haack TB, Writzl K, Škofljanec A, Maver A, Munell F, Ossowski S, Bosio M, Wegner DJ, Shinawi M, Baldridge D, Alhaddad B, Strom TM, Grange DK, Wilichowski E, Troxell R, Collins J, Warner BB, Schmidt RE, Pestronk A, Cole FS, Steinfeld R. Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN). Hum Mutat. 2017. PMID:28726266 
45. Baldridge D, Heeley J, Vineyard M, Manwaring L, Toler TL, Fassi E, Fiala E, Brown S, Goss CW, Willing M, Grange DK, Kozel BA, Shinawi M. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. Genet Med. 2017. PMID:28252636 
46. Fleischer J, Shenoy A, Goetzinger K, Cottrell CE, Baldridge D, White FV, Shinawi M. Digynic triploidy: utility and challenges of noninvasive prenatal testing. Clin Case Rep. 2015;3(6):406-10. PMCID:PMC4498852  PMID:26185638 
47. Wangler MF, Gonzaga-Jauregui C, Gambin T, Penney S, Moss T, Chopra A, Probst FJ, Xia F, Yang Y, Werlin S, Eglite I, Kornejeva L, Bacino CA, Baldridge D, Neul J, Lehman EL, Larson A, Beuten J, Muzny DM, Jhangiani S, Baylor-Hopkins Center for Mendelian Genomics, Gibbs RA, Lupski JR, Beaudet A. 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 
48. Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH. 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 
49. Kelley BP, Malfait F, Bonafe L, Baldridge D, Homan E, Symoens S, Willaert A, Elcioglu N, Van Maldergem L, Verellen-Dumoulin C, Gillerot Y, Napierala D, Krakow D, Beighton P, Superti-Furga A, De Paepe A, Lee B. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. J Bone Miner Res. 2011;26(3):666-72. PMCID:PMC3179293  PMID:20839288 
50. Baldridge D, Lennington J, Weis M, Homan EP, Jiang MM, Munivez E, Keene DR, Hogue WR, Pyott S, Byers PH, Krakow D, Cohn DH, Eyre DR, Lee B, Morello R. Generalized connective tissue disease in Crtap-/- mouse. PLoS One. 2010;5(5):e10560. PMCID:PMC2868021  PMID:20485499 
51. Alanay Y, Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D. 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 
52. Baldridge D, Shchelochkov O, Kelley B, Lee B. Signaling pathways in human skeletal dysplasias. Annu Rev Genomics Hum Genet. 2010;11:189-217. PMID:20690819 
53. Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat. 2008;29(12):1435-42. PMCID:PMC2671575  PMID:18566967 
54. Pal T, Napierala D, Becker TA, Loscalzo M, Baldridge D, Lee B, Sutphen R. The presence of germ line mosaicism in cleidocranial dysplasia. Clin Genet. 2007;71(6):589-91. PMID:17539909 
55. Baldridge D, Lecanda F, Shin CS, Stains J, Civitelli R. Sequence and structure of the mouse connexin45 gene. Biosci Rep. 2001;21(5):683-9. PMID:12168774