Inborn errors of metabolism
Connective tissue genetics
Grand, Skraban, Cohen, Dowsett, Mazzola, Tarpinian, Bedoukian, Nesbitt, Denenberg, Lulis, Santani, Zackai, Deardorff. Nonlethal presentations of CYP26B1-related skeletal anomalies and multiple synostoses syndrome. Am J Med Genet. 2021; Jun 23. doi: 10.1002/ajmg.a.62387.
Dowsett, Lulis, Ficicioglu, Cuddapah. Utility of genetic testing for confirmation of abnormal newborn screening in disorders of long-chain fatty acids: A missed case of carnitine palmitoyltransferase 1A (CPT1A) Deficiency. Int J Neonatal Screen. 2017; 3(2).
Chung, Martin, Jalas , Braddock, Juusola, Monaghan, Warner, Franks, Yudkoff, Lulis, Rhodes, Prasad, Torti, Cho, Shinawi. Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. J Med Genet. 2015; 52(9):627-35.
Cruz, Schnur, Post, Bodagala, Ahmed, Smith, Lulis, Stahl, Kushnir; Clinical and genetic complexity in the Martinez-Frias/Mitchell Riley syndrome. J Perinatol. 2014; 34(12):948-50.
Lulis, Reichert, Gallo, Medne, Priestley, Bedoukian, Campbell, Surrey, Li, Izumi, Dulik, Spinner, Krantz, Conlin, Murrell; Becoming Good Stewards - The development of a genetic test utilization policy and process at a tertiary children's hospital. Patient-centered Laboratory Utilization Guidance Services Summit: 2022 (submitted 2/28/2022).
Reichert, Lulis, Medne, Gallo, Priestley, Bedoukian, Gray, Leonard, Hartman, Xu, Campbell, Surrey, Li, Izumi, Dulik, Conlin, Spinner, Krantz, Murrell; Development of an inpatient genetic test utilization process: Lessons learned through a pilot study at a large tertiary care children’s hospital. Pennsylvania Association of Genetic Counseling Meeting: 2022.
Leadership and Memberships
Memberships in Professional Organizations
National Society of Genetic Counselors
Patient Experience Ratings
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