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Melissa A Walker, M.D., Ph.D.


1999 - 2003
Coca-Cola Scholarship
1999 - 2003
Angier B. Duke Memorial Scholarship
Howard Hughes Undergraduate Summer Research Program
Howard Hughes Alumni Undergraduate Research Stipend
2007 - 2008
NIH/NEI Vision Sciences Training Grant, predoctoral
2008 - 2011
NIH/NINDS Ruth L. Kirschstein National Research Service Award, Predoctoral MD/PhD
Medearis Travel Grant
Resident Teaching Award, Pediatrics
Burroughs Wellcome Travel Scholarship
Primary Clinical Experience Resident Teaching Award, Neurology
2015 - 2018
NIH/NINDS Research Education Grant (R25)
Resident Scholarship to the Annual Meeting
2017 - 2019
Shields Grant
2017 - 2019
UMDF Postdoctoral Fellowship
ECOR Medical Discovery Fund Clinical Fellowship
Career Development Award (deferred for K08)

The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. K08NS117889 (WALKER, MELISSA ANNE) May 1, 2021 - Mar 31, 2026
    Dual Genome Omics: Adapting Genomics Techniques to Reveal Molecular Pathology in Mitochondrial Disease
    Role: Principal Investigator
  2. Neurology Translational Scholar Award (Melissa A. Walker) Sep 1, 2019 - Sep 1, 2021
    MGH/HMS Department of Neurology
    Deciphering mechanisms of mitochondrial disease through the circulating transcriptome
    Role: PI
  3. Shields Award (Melissa A. Walker) Sep 1, 2017 - Sep 1, 2019
    Child Neurology Foundation
    Developmental of a Novel Single Blood Draw Assay for Mitochondrial Disease
    Role: PI
  4. UMDF Fellowship (Melissa A. Walker) Sep 1, 2017 - Sep 1, 2019
    United Mitochondrial Disease Foundation
    Developmental of a Novel Single Blood Draw Assay for Mitochondrial Disease
    Role: PI
  5. (Melissa A. Walker) Jul 1, 2017 - Jul 1, 2018
    Massachusetts General Hospital ECOR Fund for Medical Discovery
    Development of a Novel Single Blood Draw Assay for Mitochondrial Disease

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH, Wangler MF, Yamamoto S, Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 Nov 03; 109(11):2092. PMID: 36332614; PMCID: PMC9674957.
    Citations:    Fields:    
  2. Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH, Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability. Am J Hum Genet. 2022 10 06; 109(10):1923-1931. PMID: 36067766; PMCID: PMC9606386.
    Citations:    Fields:    Translation:HumansAnimals
  3. Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. J Inherit Metab Dis. 2022 09; 45(5):996-1012. PMID: 35621276; PMCID: PMC9474623.
    Citations:    Fields:    
  4. Yuen L, Sahai I, O'Grady L, Selig M, Walker MA, Shah U, Misdraji J. Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency. Am J Med Genet A. 2022 09; 188(9):2760-2765. PMID: 35781780.
    Citations:    Fields:    
  5. Bernson-Leung ME, Rapalino O, Walker MA, Butler WE. Case 40-2021: A 9-Year-Old Boy with Transient Weakness, Facial Droop, and Slurred Speech. N Engl J Med. 2021 Dec 30; 385(27):2563-2572. PMID: 34965341.
    Citations:    Fields:    Translation:Humans
  6. Walker MA, Miranda M, Allred A, Mootha VK. On the dynamic and even reversible nature of Leigh syndrome: Lessons from human imaging and mouse models. Curr Opin Neurobiol. 2022 02; 72:80-90. PMID: 34656053; PMCID: PMC8901530.
    Citations: 1     Fields:    Translation:HumansAnimals
  7. 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, 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 06; 7(3). PMID: 33811063.
    Citations:    Fields:    Translation:HumansCells
  8. Walker MA. Hereditary Myelopathies. Semin Neurol. 2021 06; 41(3):303-308. PMID: 33663004.
    Citations:    Fields:    Translation:Humans
  9. Russo SN, Goldstein A, Karaa A, Koenig MK, Walker M. Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children. Child Neurol Open. 2021 Jan-Dec; 8:2329048X21991382. PMID: 33718511.
  10. Sharma R, Reinstadler B, Engelstad K, Skinner OS, Stackowitz E, Haller RG, Clish CB, Pierce K, Walker MA, Fryer R, Oglesbee D, Mao X, Shungu DC, Khatri A, Hirano M, De Vivo DC, Mootha VK. Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity. J Clin Invest. 2021 01 19; 131(2). PMID: 33463549; PMCID: PMC7810486.
    Citations: 15     Fields:    Translation:HumansCTClinical Trials
  11. Rath S, Sharma R, Gupta R, Ast T, Chan C, Durham TJ, Goodman RP, Grabarek Z, Haas ME, Hung WHW, Joshi PR, Jourdain AA, Kim SH, Kotrys AV, Lam SS, McCoy JG, Meisel JD, Miranda M, Panda A, Patgiri A, Rogers R, Sadre S, Shah H, Skinner OS, To TL, Walker MA, Wang H, Ward PS, Wengrod J, Yuan CC, Calvo SE, Mootha VK. MitoCarta3.0: an updated mitochondrial proteome now with sub-organelle localization and pathway annotations. Nucleic Acids Res. 2021 01 08; 49(D1):D1541-D1547. PMID: 33174596.
    Citations: 116     Fields:    Translation:HumansAnimalsCells
  12. Rossetti LZ, Bekheirnia MR, Lewis AM, Mefford HC, Golden-Grant K, Tarczy-Hornoch K, Briere LC, Sweetser DA, Walker MA, Kravets E, Stevenson DA, Bruenner G, Sebastian J, Knapo J, Rosenfeld JA, Marcogliese PC, Wangler MF. Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. Mol Genet Genomic Med. 2021 01; 9(1):e1542. PMID: 33350591.
    Citations: 1     Fields:    Translation:Humans
  13. Walker MA, Lareau CA, Ludwig LS, Karaa A, Sankaran VG, Regev A, Mootha VK. Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells. N Engl J Med. 2020 10 15; 383(16):1556-1563. PMID: 32786181; PMCID: PMC7593775.
    Citations: 9     Fields:    Translation:HumansCells
  14. Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M, Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363. PMID: 32693025.
    Citations: 21     Fields:    Translation:Humans
  15. Dutta D, Briere LC, Kanca O, Marcogliese PC, Walker MA, High FA, Vanderver A, Krier J, Carmichael N, Callahan C, Taft RJ, Simons C, Helman G, Network UD, Wangler MF, Yamamoto S, Sweetser DA, Bellen HJ. De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Hum Mol Genet. 2020 06 03; 29(9):1568-1579. PMID: 32356556; PMCID: PMC7268787.
    Citations: 11     Fields:    Translation:HumansCells
  16. Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Amiel J, Urreizti R, Gordon CT. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med. 2020 07; 22(7):1215-1226. PMID: 32376980; PMCID: PMC8093014.
    Citations: 7     Fields:    Translation:HumansCells
  17. Walker MA, Lerman-Sagie T, Swoboda K, Lev D, Blumkin L. Refining the phenotype of the THG1L (p.Val55Ala mutation)-related mitochondrial autosomal recessive congenital cerebellar ataxia. Am J Med Genet A. 2019 08; 179(8):1575-1579. PMID: 31168944.
    Citations: 1     Fields:    Translation:Humans
  18. Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N, Shashi V, Pena LDM. Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features. Cold Spring Harb Mol Case Stud. 2018 10; 4(5). PMID: 29970384.
    Citations: 10     Fields:    Translation:Humans
  19. Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT. 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 09; 125(1-2):118-126. PMID: 30031689; PMCID: PMC6557438.
    Citations: 3     Fields:    Translation:Humans
  20. Walker MA, Mohler KP, Hopkins KW, Oakley DH, Sweetser DA, Ibba M, Frosch MP, Thibert RL. Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease. J Child Neurol. 2016 08; 31(9):1127-37. PMID: 27095821; PMCID: PMC4981184.
    Citations: 13     Fields:    Translation:Humans
  21. Walker, MA, Staley KS. Section 11: Neurology. Pediatric Evidence: The Practice-Changing Studies. Ed. Lindsay P. Carter, Meredith G.A. Eicken, Vandana L. Madhavan. 2016.
  22. Walker MA, Zepeda R, Afari HA, Cohen AB. Hearing loss in Wernicke encephalopathy. Neurol Clin Pract. 2014 Dec; 4(6):511-515. PMID: 29443160; PMCID: PMC5759994.
    Citations: 6     
  23. Farough S, Karaa A, Walker MA, Slate N, Dasu T, Verbsky J, Fusunyan R, Canapari C, Kinane TB, Van Cleave J, Sweetser DA, Sims KB, Walter JE. Coenzyme Q10 and immunity: A case report and new implications for treatment of recurrent infections in metabolic diseases. Clin Immunol. 2014 Dec; 155(2):209-12. PMID: 25264263.
    Citations: 7     Fields:    Translation:HumansCells
  24. Walker MA, Volpi S, Sims KB, Walter JE, Traggiai E. Powering the immune system: mitochondria in immune function and deficiency. J Immunol Res. 2014; 2014:164309. PMID: 25309931.
    Citations: 29     Fields:    Translation:HumansCells
  25. Walker MA, Slate N, Alejos A, Volpi S, Iyengar RS, Sweetser D, Sims KB, Walter JE. Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic center. J Allergy Clin Immunol Pract. 2014 Jul-Aug; 2(4):465-468, 468.e1. PMID: 25017538.
    Citations: 17     Fields:    Translation:Humans
  26. Melissa A. Walker, Paritosh Prasad, Avi Traum. Pocket Pediatrics. Renal Chapter. 2013.
  27. Jin X, Walker MA, Felsövályi K, Vendome J, Bahna F, Mannepalli S, Cosmanescu F, Ahlsen G, Honig B, Shapiro L. Crystal structures of Drosophila N-cadherin ectodomain regions reveal a widely used class of Ca²+-free interdomain linkers. Proc Natl Acad Sci U S A. 2012 Jan 17; 109(3):E127-34. PMID: 22171007.
    Citations: 23     Fields:    Translation:AnimalsCells
  28. Walker, Melissa Anne. Structural Studies of Drosophila Neuronal (N)-cadherin. 2010.
  29. Immormino RM, Dollins DE, Shaffer PL, Soldano KL, Walker MA, Gewirth DT. Ligand-induced conformational shift in the N-terminal domain of GRP94, an Hsp90 chaperone. J Biol Chem. 2004 Oct 29; 279(44):46162-71. PMID: 15292259.
    Citations: 45     Fields:    Translation:AnimalsCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.