Publications

• Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
  medRxiv
  02/07/2023 Authors: Perez KKD; Chung S; Head ST; Epstein MP; Hecht JT; Wehby GL; Weinberg SM; Murray JC; Marazita ML; Leslie EJ
• Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care.
  Genet Med Volume: 23 Page(s): 872 - 880
  05/01/2021 Authors: Sanchez Russo R; Gambello MJ; Murphy MM; Aberizk K; Black E; Burrell TL; Carlock G; Cubells JF; Epstein MT; Espana R
• Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report.
  BMC Psychiatry Volume: 20 Page(s): 184
  04/22/2020 Authors: Murphy MM; Burrell TL; Cubells JF; Epstein MT; Espana R; Gambello MJ; Goines K; Klaiman C; Koh S; Russo RS
• Case-control Association Study of Autoimmunity Associated Variants in PDCD1 and Juvenile Idiopathic Arthritis.
  Curr Rheumatol Rev Volume: 13 Page(s): 219 - 223
  01/01/2017 Authors: Tejeda C; Broadaway AK; Ombrello MJ; Brown MR; Ponder LA; Pichavant MR; Wang G; Angeles-Han S; Hersh A; Bohnsack J
• N-Methyl-D-Aspartate Receptor (NMDAR)-based Enhancement of Auditory Plasticity
  Volume: 40 Page(s): S369 - S369
  12/01/2015 Authors: Kantrowitz J; Epstein M; Beggel O; Rohrig S; Lehrfeld J; Revheim N; Scaramello N; Parker E; Reep J; Silipo G
• Meta-analysis confirms association between TNFA-G238A variant and JIA, and between PTPN22-C1858T variant and oligoarticular, RF-polyarticular and RF-positive polyarticular JIA.
  Pediatr Rheumatol Online J Volume: 11 Page(s): 40
  10/25/2013 Authors: Kaalla MJ; Broadaway KA; Rohani-Pichavant M; Conneely KN; Whiting A; Ponder L; Okou DT; Angeles-Han S; Rouster-Stevens K; Brown MR