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  2. Pilar L. Magoulas, MS, CGC

Pediatric Genetic Counselor
Assistant Professor
Chief, Division of Genetic Counseling
Department of Molecular and Human Genetics
Baylor College of Medicine

Member, Board of Directors
CFC International, Inc.
Support group for cardio-facio-cutaneous syndrome.

Texas Children’s Hospital
6621 Fannin St. CC1560
Houston, TX 77030
contact address
https://www.bcm.edu/people/view/pilar-magoulas-m-s-c-g-c/b2059e49-ffed-...

Biosketch:

B.S. Psychology - University of Florida
M.S. Genetic Counseling - Northwestern University

Pilar Magoulas is a pediatric genetic counselor, assistant professor, and chief of the Division of Genetic Counseling at Baylor College of Medicine. She previously worked as a pediatric genetic counselor at the University of Utah in Salt Lake City where she was actively involved in the medical genetics and metabolic genetics clinics. She coordinated treatment for many of the patients seen with lysosomal storage disorders and became actively involved with different parent support groups. She was also involved in the planning and implementation of the Graduate Program in Genetic Counseling at the University of Utah. She has been with Baylor College of Medicine since 2006. Her primary responsibilities include coordination of the inpatient consultation service, managing the genetics clinic at Texas Children’s Hospital, and supervising all of the genetics office staff, genetic counselors, research coordinators, and nurses.

No reported conflicts of interest at time of publishing.

Selected Bibliography:

Pierpont ME, Magoulas PL, Adi S, Kavamura MI, Neri G, Noonan J, Pierpont EI, Reinker K, Roberts AE, Shankar S, Sullivan J, Wolford M, Conger B, Santa Cruz M, Rauen KA.
Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.
Pediatrics. 2014;134(4):e1149-62. PubMed abstract / Full Text

Magoulas PL, El-Hattab AW.
Glycogen Storage Disease Type IV.
GeneReviews® [Internet]. 1993. PubMed abstract / Full Text

Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, Potocki L.
Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.
Am J Med Genet A. 2014;164A(2):500-4. PubMed abstract

Hanchard NA, Murdock DR, Magoulas PL, Bainbridge M, Muzny D, Wu YQ, Wang M, McGuire AL, Lupski JR, Gibbs RA, Brown CW.
Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness.
Clin Genet. 2013;83(5):457-61. PubMed abstract / Full Text