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Laurie Smith, MD, Ph.D.

Associate Professor, Genetics

UNC Children’s Hospital Genetics Clinic
101 Manning Drive
Chapel Hill, NC 27514
http://findadoc.unchealthcare.org/details/22366

Biosketch:

Dr. Laurie Smith completed medical school and her pediatric residency at Oregon Health and Sciences University. She worked as a general pediatric practitioner before returning to complete a fellowship in Clinical and Biochemical Genetics at Oregon. She practiced pediatric clinical genetics and metabolism at Children’s Mercy Hospital in Kansas City, MO, until joining the Children's Mercy Hospital Genome Center.

Dr. Smith's specific interests are newborn screening and treatment of rare inborn errors of metabolism, including the use of whole exome and genome sequencing technology. She has edited a book on laboratory evaluation of metabolic disorders and is in the process of working on a second book.

Dr. Smith sees patients with general genetic disorders, craniofacial conditions, birth defects, and inborn errors of metabolism at the UNC Children’s Hospital Genetics Clinic and the Raleigh Specialty Clinic.

Selected Bibliography:

Willig LK, Petrikin JE, Smith LD, Saunders CJ, Thiffault I, Miller NA, Soden SE, Cakici JA, Herd SM, Twist G, Noll A, Creed M, Alba PM, Carpenter SL, Clements MA, Fischer RT, Hays JA, Kilbride H, McDonough RJ, Rosterman JL, Tsai SL, Zellmer L, Farrow EG, Kingsmore SF.
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Lancet Respir Med. 2015;3(5):377-87. PubMed abstract / Full Text

Tsalik EL, Langley RJ, Dinwiddie DL, Miller NA, Yoo B, van Velkinburgh JC, Smith LD, Thiffault I, Jaehne AK, Valente AM, Henao R, Yuan X, Glickman SW, Rice BJ, McClain MT, Carin L, Corey GR, Ginsburg GS, Cairns CB, Otero RM, Fowler VG Jr, Rivers EP, Woods CW, Kingsmore SF.
An integrated transcriptome and expressed variant analysis of sepsis survival and death.
Genome Med. 2014;6(11):111. PubMed abstract / Full Text

Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, Creed M, Ye Z, Yuan X, Brodsky RA, Kingsmore SF.
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Sci Transl Med. 2014;6(265):265ra168. PubMed abstract / Full Text

Sass JO, Walter M, Shield JP, Atherton AM, Garg U, Scott D, Woods CG, Smith LD.
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.
J Inherit Metab Dis. 2012;35(3):437-42. PubMed abstract

Dinwiddie DL, Smith LD, Miller NA, Atherton AM, Farrow EG, Strenk ME, Soden SE, Saunders CJ, Kingsmore SF.
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.
Genomics. 2013;102(3):148-56. PubMed abstract