Laura Mackay, M.D.

Assistant Professor

Schools: Medical School
Departments: Pediatrics

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Education

Other Post Graduate Training: University of Texas Health Science Center at Houston (2017)
Medical School: Texas Tech El Paso Paul Foster School of Medicine (2017)
Residency: Baylor College of Medicine/Texas Children's Hospital (2021), Pediatrics & Medical Genetics
Fellowship: Baylor College of Medicine/Texas Children's Hospital (2022), Medical Biochemical Genetics

Publications

Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata: Sankhe R, Williams MI, Fallatah W, Mackay L, Brown ML, Bhagwat P, Elsea SH, Braverman N, Wangler MF Biomolecules 2026 Jan 16
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder: Author Collaboration BC, Mok JW, Mackay L, Blazo M, Mizerik E, Gecz J, Carroll R, Nizon M, Rondeau S, Joubert M, Cuinat S, Deb W, Valle Sirias F, Weisz-Hubshman M, Ketkar S, Polak U, Tran AA, Kearney D, Hanchard NA, Kanca O, Wangler MF, Bellen HJ, Lee BH, Milosavljevic A, Lanza DG, Mao D, Heaney JD, Rogers J, Posey JE, Rosenfeld JA, Burrage LC, Roth M, Darshoori RZ, Nagamani SC, Kim SY, Ramamurthy U, Ramanathan V, Liu Z, Yamamoto S, Machol K Genetics in Medicine 2025 Jul 27
Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency: Walimbe AS, Waskow E, Mackay L, Miller M, Gijavanekar C, Difalco CR, Elsea SH, Scaglia F American Journal of Medical Genetics, Part A 2025 Jun 197
Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes: DiFalco CR, Gijavanekar C, Wang Y, Grace AN, Machol K, Emrick L, Liu N, Mizerik E, Mackay L, Dai H, Vossaert L, Xia F, Elsea SH, Scaglia F Molecular Genetics and Metabolism 2025 Mar 144
Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis: Glinton KE, Gijavanekar C, Rajagopal A, Mackay LP, Martin KA, Pearl PL, Gibson KM, Wilson TA, Sutton VR, Elsea SH Frontiers in Genetics 2024 15
Phenylketonuria—Past, Present, and Future Directions: Bailey NA, Mackay L OBM Genetics 2024 8
Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency: Mackay L, Gijavanekar C, Streff H, Price JF, Elsea SH, Scaglia F American Journal of Medical Genetics, Part A 2023 May 191 1366-1372
Evidence that FGFRL1 contributes to congenital diaphragmatic hernia development in humans: Gofin Y, Mackay LP, Machol K, Keswani S, Potocki L, Di Gregorio E, Naretto VG, Brusco A, Hernandez-Garcia A, Scott DA American Journal of Medical Genetics, Part A 2021 Mar 185 836-840