Northwestern University Feinberg School of Medicine
Department of Pediatrics
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Genetics, Birth Defects and Metabolism Publications

Below are listed selected publications by faculty members in the Division of Genetics, Birth Defects and Metabolism in the Department of Pediatrics at Northwestern University Feinberg School of Medicine.

Recent PubMed Publications

  1. Sanders VR, Sheldon SH, Charrow J  Cervical spinal cord compression in infants with achondroplasia: should neuroimaging be routine?  Genet Med  2018 Jun 05;. doi:10.1038/s41436-018-0070-0
  2. Charrow J, Fraga C, Gu X, Ida H, Longo N, Lukina E, Nonino A, Gaemers SJM, Jouvin MH, Li J, Wu Y, Xue Y, Peterschmitt MJ  Once- versus twice-daily dosing of eliglustat in adults with Gaucher disease type 1: The Phase 3, randomized, double-blind EDGE trial.  Mol Genet Metab  2018 Mar;123(3):347-356. pii:S1096-7192(17)30569-3
  3. Burton BK, Kronn DF, Hwu WL, Kishnani PS,   The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.  Pediatrics  2017 Jul;140(Suppl 1):S14-S23. doi:10.1542/peds.2016-0280D
  4. Burton BK, Charrow J, Hoganson GE, Waggoner D, Tinkle B, Braddock SR, Schneider M, Grange DK, Nash C, Shryock H, Barnett R, Shao R, Basheeruddin K, Dizikes G  Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.  J Pediatr  2017 Nov;190:130-135. pii:S0022-3476(17)30898-3
  5. Burton BK, Silliman N, Marulkar S  Progression of liver disease in children and adults with lysosomal acid lipase deficiency.  Curr Med Res Opin  2017 07;33(7):1211-1214. doi:10.1080/03007995.2017.1309371
  6. Lai JS, Jensen SE, Patel ZS, Listernick R, Charrow J  Using a qualitative approach to conceptualize concerns of patients with neurofibromatosis type 1 associated plexiform neurofibromas (pNF) across the lifespan.  Am J Med Genet A  2017 Jan;173(1):79-87. doi:10.1002/ajmg.a.37987
  7. Goetsch AL, Wicklund C, Clayman ML, Woodruff TK  Reproductive Endocrinologists' Utilization of Genetic Counselors for Oncofertility and Preimplantation Genetic Diagnosis (PGD) Treatment of BRCA1/2 Mutation Carriers.  J Genet Couns  2016 Jun;25(3):561-71. doi:10.1007/s10897-015-9908-7
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