JenniferCohenMD

PubMed

• Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
  Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz...> ;NPJ Genomic Medicine. 2024 Mar 1
• 2 citations
  Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.
  Akos Herzeg, Beltran Borges, Billie R Lianoglou, Juan Gonzalez-Velez, Emma Canepa, Dane Munar, Sarah P Young, Deeksha Bali, Michel H Gelb, Pranesh Chakraborty, Priya S...> ;Prenatal Diagnosis. 2023 Dec 1
• 1 citations
  Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome.
  M Makenzie Beaman, Lucia Guidugli, Monia Hammer, Chelsea Barrows, Anne Gregor, Sangmoon Lee, Kristen L Deak, Marie T McDonald, Courtney Jensen, Maha S Zaki, Amira T Ma...> ;American Journal of Medical Genetics. Part A. 2023 Nov 1
• 2 citations
  Deletion Is Associated With Sex-dependent Cardiomyopathy and Cardiac Mortality: A Translational, Multi-Institutional Cohort Study.
  Kramer, R., Fatahian, A., Chan, A., Mortenson, J., Osher, J., Sun, B., Parker, L., Rosamilia, M., Potter, K., Moore, K., Atkins, S., Rosenfeld, J., Birjiniuk, A., Jone...> ;Circulation. Genomic and Precision Medicine. 2023 Aug 1
• 2 citations
  Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline.
  Makenzie Beaman, Kimberley Fisher, Marie McDonald, Queenie K G Tan, David Jackson, Benjamin T Cocanougher, Andrew P Landstrom, Charlotte A Hobbs, Michael Cotten, Jenni...> ;Journal of Personalized Medicine. 2022 Nov 18
• 18 citations
  In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.
  Jennifer L Cohen, Pranesh Chakraborty, Karen Fung-Kee-Fung, Marisa E Schwab, Deeksha Bali, Sarah P Young, Michael H Gelb, Hamid Khaledi, Alicia DiBattista, Stacey Smal...> ;The New England Journal of Medicine. 2022 Dec 8
• Assisted reproductive technology and association with childhood cancer subtypes.
  Natalie B Gulrajani, Samuel Montes, Daniel McGough, Courtney E Wimberly, Ameera Khattab, Eleanor C Semmes, Lisa Towry, Jennifer L Cohen, Jillian H Hurst, Daniel Landi,...> ;Cancer Medicine. 2023 Feb 1
• 4 citations
  Development of a clinically validatedfunctional assay to assess pathogenicity of novelvariants in patients with Pompe disease identifiednewborn screening.
  Shelly Goomber, Erin Huggins, Catherine W Rehder, Jennifer L Cohen, Deeksha S Bali, Priya S Kishnani> ;Frontiers in Genetics. 2022 Jan 1
• Novelvariant in a family with ophthalmologic, pancreatic, and olfactory features.
  Kristen L Buehne, Sarah Hart, Bradley Williams, Jennifer L Cohen> ;Cold Spring Harbor Molecular Case Studies. 2022 Jan 1
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