Sarah Elsea, PhD

ABMG Certified Biochemical Geneticist



Associate Professor
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US

Senior Division Director
Biochemical Genetics
Baylor Genetics


BS from Missouri State University
05/1990 - Springfield, Missouri, United States
Chemistry, Biology

PhD from Vanderbilt University
05/1994 - Nashville, Tennessee, United States

Post-Doctoral Fellowship at Vanderbilt University
12/1994 - Nashville, Tennessee, United States

Post-Doctoral Fellowship at Baylor College of Medicine
08/1998 - Houston, Texas, United States
Human molecular genetics

Fellowship at Baylor College of Medicine
05/1998 - Houston, Texas, United States
Clinical Biochemical Genetics


Clinical Biochemical Genetics
American Board of Medical Genetics


• Molecular and biochemical basis of rare disease; genomic disorders; metabolomics; diagnostics; neurodevelopmental disorders; caregiver concerns


• Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SH. "Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma." Mol Genet Metab. 2015 June;115:91-4. Pubmed PMID: 25956449
• Mullegama SV, Pugliesi L, Burns B, Shah Z, Tahir R, Gu Y, Nelson DL, Elsea SH. "MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes." Eur J Hum Genet. 2015 June;23:781-9. Pubmed PMID: 25271084
• Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH. "Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism." J Inherit Metab Dis. 2015 April 15;38:1029-39. Pubmed PMID: 25875217
• Girirajan S, Williams SR, Garbern JY, Nowak N, Hatchwell E, Elsea SH. "17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome." Clin Genet. 2007 July;72(1):47-58. Pubmed PMID: 17594399

show 59 more selected publications


Society for the Study of Inborn Errors of Metabolism

Society for Inherited Metabolic Disorders

American College of Medical Genetics

American Society of Human Genetics

Baylor College of Medicine Faculty Senate
Senator (10/2015 - 12/2016)