
Melissa D. Lah, MD
Associate Professor of Clinical Medical & Molecular Genetics
Associate Professor of Clinical Pediatric
- mspurr@iu.edu
- Phone
- (317) 944-3966
- Address
-
IB 150
MMGE
IN
Indianapolis, IN - PubMed:
-
Bio
Key Publications
Korstanje R, Desai J, Lazar G, King B, Rollins J, Spurr M, Joseph J, Kadambi S, Li Y, Cherry A, Matteson PG, Paigen B, Millonig JH. 2008. Quantitative trait loci affecting phenotypic variation in the vacuolated lens mouse mutant, a multigenic mouse model of neural tube defects. Physiol. Genomics 35: 296-304.
Jackson J, Delk P, Farrow E, Griffith C, Lah M, Weaver DD. 2015. An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: a previously undescribed syndrome? Am J Med Genet Part A 167A: 683-687.
Lah M, Niranjan T, Srikanth S, Holloway L, Schwartz CE, Wang T and Weaver DD. 2016. A Distinct X-linked Syndrome Involving Joint Contractures, Keloids, Large Optic Cup-to-disc Ratio and Renal Stones Results from a Filamin A (FLNA) Mutation. Am J Med Genet Part A 170:881-890
Goedde LN, Stupiansky NW, Lah M, Quaid KA, Cohen S. 2017. Cancer Genetic Counselors' Current Practices and Attitudes Related to the Use of Tumor Profiling. J Genet Counsel 26(4):878-886.
Armstrong MD, Weaver DD, Lah MD, Vance GH, Ware SM, Helm BM. 2018. Novel Phenotype of 5p13.3q11.2 Duplication Resulting from Supernumerary Marker Chromosome 5: Implications for Management and Genetic Counseling. Mol Cytogenet 11(1), [23]. DOI: 10.1186/s13039-018-0372-6
Bari BO, Skillman S, Lah MD, Haggstrom AN. 2018. Compound heterozygous mutations in desmoplakin associated with skin fragility, follicular hyperkeratosis, alopecia, and nail dystrophy. Pediatr Dermatol 35(4):e218-e220. doi: 10.1111/pde.13498, ISBN/ISSN: 0736-8046
McPheron M, Lah M. 2019. Survival of a male infant with ornithine transcarbamylase deficiency due to a familial contiguous Xp11.4 deletion. JIMD Rep 45:83-87. doi: 10.1007/8904_2018_145 †
Feldman HR, Dlouhy SR, Lah MD, Payne KK, Weaver DD. 2019. The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene. Am J Med Genet Part A 179(2):300-305. doi: 10.1002/ajmg.a.60698, ISBN/ISSN: 1552-4825
Adams D, Andersson HC, Bausell H, Crivelly K, Eggerding C, Lah M, Lilienstein J, Lindstrom K, McNutt M, Ray JW, Saavedra H, Sacharow S, Starin D, Tiffany-Amaro J, Thomas J, Vucko E, Wessenberg LB, Whitehall K. Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics. 2021. Mol. Genet. Metab. Rep 28 (2021) 100790. doi: 10.1016/j.ymgmr.2021.100790
Lah M, Cook K, Gomes A, Liu S, Tabatabaeepour N, Kirson N, Chen E, Lindstrom K, Bulloch Whitehall K, Van Backle J, Burton B. 2022. Real-word treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing data. Mol. Genet. Metab. Rep. 33(2):100918. doi: 10.1016/j.ymgmr.2022.100918
Miller JL, Gevers E, Bridges N, Yanovski JA, Salehi P, Obrynba KS, Felner EI, Bird LM, Shoemaker AH, Angulo M, Butler MG, Stevenson D, Goldstone AP, Wilding J, Lah M, Shaikh MG, Littlejohn E, Abuzzahab MJ, Fleischman A, Hirano P, Yen K, Cowen NM, Bhatnagar A. 2024. Diazoxide Choline Extended-Release Tablet in People with Prader-Willi Syndrome: Results from Long-Term Open-Label Study. Obesity. 32(2):252-261. doi: 10.1002/oby.23928
Bier C, Dickey K, Bibb B, Crutcher A, Sponberg R, Chang R, Boyer M, Davis-Keppen L, Matthes C, Tharp M, Vice D, Cooney E, Morand M, Ray J, Lah M, McNutt M, Andersson HC. 2024. Outcomes In 14 Live Births Resulting From Pegvaliase-Treated Pregnancies In PKU-Affected Females. Mol. Genet. Metab. 141(3):108152. doi: 10.1016/j.ymgme.2024.108152
Helm BM, Helvaty LR, Conboy E, Geddes GC, Graham BH, Lah M, Wetherill L, Landis BJ, Ware SM. 2024. Performance of Dysmorphology-Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic Testing. Mol Genet Genomic Med. 12(11):e70040. doi: 10.1002/mgg3.70040.
Cooney E, Ammous Z, Bender T, Clague GE, Clifford M, Crutcher A, Davis-Keppen L, Havens K, Lah M, Sacharow S, Sanchez-Valle Aj, Vucko E, Wardley B, Wessenberg L, Andersson HC. 2024. Lessons learned from 5 years of pegvaliase in US clinics: A case series. MGM Reports. 42:101181. doi.org/10.1016/j.ymgmr.2024.101181.
Ficicioglu C, Thomas JA, Ganesh J, Kudrow D, Lah M, Smith WE, Güner J, McDermott S,Vaidya SA, Wilkening L, Levy HL. 2025. Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE® phase 1/2 randomized trial. GIM. 27(8): 101456. doi.org/ 10.1016/j.gim.2025.101456
For a full list of Dr. Lah's publications, click here.
Year | Degree | Institution |
---|---|---|
2007 | MD | Indiana University |
2003 | BS | University of Notre Dame |
Dr. Lah's clinical interests include clinical genetics and dysmorphology, birth defects and inborn errors of metabolism.