Nancy J Mendelsohn MD

PubMed

• 20 citations
  Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
  Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark
  American Journal of Medical Genetics. Part A. 2023-08-01
• 18 citations
  SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
  Valentina Serpieri, Fulvio D’Abrusco, Jennifer C. Dempsey, Yong-Han Hank Cheng, Filippo Arrigoni
  Journal of Medical Genetics. 2021-10-21
• 11 citations
  Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies.
  Sara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, Ilenia Maini, Marzia Pollazzon
  American Journal of Medical Genetics. Part A. 2020-12-01

Journal Articles

• Refining the Phenotype Associated with GNB1 Mutations: Clinical Data on 18 Newly Identified Patients and Review of the Literature  
  Vinodh Narayanan, Nancy J Mendelsohn, Ana Bircher, Tristan T Sands, Alejandro Iglesias, American Journal of Medical Genetics Part A
• Expanding the Clinical Phenotype of Individuals with a 3-Bp in-Frame Deletion of the NF1 Gene (c.2970_2972del): An Update of Genotype–Phenotype Correlation  
  Rachel K Hachen, Elizabeth K Schorry, Arthur S Aylsworth, Katherine A Rauen, Ashraf Syed, Daryl A Scott, Lois J Starr, Donald G Basel, Lynne M Bird, Leah W Burke, Mari..., Nature