JenniferBHumbersonMDMD(She/Her)

PubMed

• 27 citations
  Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
  Hwang, S. T., Esplin, E. D., Dianalee McKnight, Ana Morales, Kathryn E Hatchell, Sara L Bristow, Joshua L Bonkowsky, Michael Scott Perry, Anne T Berg, Felippe Borlot, ...> ;JAMA Neurology. 2022 Dec 1
• 6 citations
  Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants.
  Eva Jacobs, Kathleen Brown, Melissa Byler, Erika D'haenens, Annelies Dheedene, Lindsay B. Henderson, Jennifer B. Humberson, Richard H. van Jaarsveld, Farah Kanani, Rob...> ;Clinical Genetics. 2021 Feb 1
• 9 citations
  De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.
  Sakshi Singh, Aditi Gupta, Michael Zech, Ashley N. Sigafoos, Karl J. Clark, Yasemin Dincer, Matias Wagner, Jennifer B. Humberson, Sarah R Green, Koen L.I. van Gassen, ...> ;Genetics in Medicine. 2020 May 5
• 22 citations
  Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
  Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard, Thomas Garcia, Slavé Petrovski, Shiri Avni, Kirsty McWalter, Patrick R. ...> ;American Journal of Human Genetics. 2019 Mar 7
• 1 citations
  Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report.
  Siobhán O’Keefe, Dieter T. Wefuan, Jennifer B. Humberson, Karen Schmidt, John E. Wiley> ;Journal of Medical Case Reports. 2016 Aug 12
• 42 citations
  Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
  Angela E. Lin, Caroline Michot, Valérie Cormier-Daire, Thomas J. L'Ecuyer, G. Paul Matherne, Barrett H. Barnes, Jennifer B. Humberson, Andrew C. Edmondson, Elaine H. Z...> ;American Journal of Medical Genetics. Part A. 2016 Jun 14
• 42 citations
  Mutations in ARID2 are associated with intellectual disabilities
  Linshan Shang, Megan T. Cho, Kyle Retterer, Leandra Folk, Jennifer B. Humberson, Luis Rohena, Alpa Sidhu, Sheila Saliganan, Alejandro Iglesias, Patrik Vitazka, Jane Ju...> ;Neurogenetics. 2015 Aug 4
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